UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 1

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MARC1 1042 77% . MARCH1 1200 100% . MARC2 1036 85% . MARCH2 757 100% . MARCH3 778 100% . MARCH4 1249 96% . MARCH5 861 95% . MARCH6 2837 99% . MARCH7 2151 100% . MARCH8 900 100% . MARCH9 1057 64% . MARCH10 2467 100% . MARCH11 1225 56% . SEPT1 1148 99% . SEPT2 1130 100% . SEPT3 1303 99% . SEPT4 1841 97% . SEPT5 1490 91% . SEPT6 1367 98% . SEPT7 1500 87% . SEPT8 1812 96% . SEPT9 3128 95% Hereditary Neuralgic Amyotrophy SEPT10 1409 98% . SEPT11 1330 98% . SEPT12 1113 96% . SEPT14 1335 100% . SEP15 654 100% . DEC1 229 100% . A1BG 1520 78% . A1CF 2166 100% . A2LD1 466 16% . A2M 4569 100% . A2ML1 4505 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 2

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) A4GALT 1066 99% . A4GNT 1031 100% . AAAS 1705 100% Achalasia-Addisonianism-Alacrima Syndrome AAAS 1705 100% Choriodal Dystrophy, Central Areolar 2 AACS 2091 93% . AADAC 1220 100% . AADACL2 1226 100% . AADACL3 1073 100% . AADACL4 1240 100% . AADAT 1330 97% . AAGAB 988 100% . AAK1 2970 100% . AAMP 1349 99% . AANAT 1017 82% . AARS 2987 100% Charcot-Marie-Tooth Neuropathy Type 2 AARS 2987 100% Charcot-Marie-Tooth Neuropathy Type 2N AARS2 3046 99% Combined Oxidative Phosphorylation Deficiency 8 AARSD1 1990 94% . AASDH 3353 100% . AASDHPPT 954 100% . AASS 2873 100% Hyperlysinemia AASS 2873 100% Choriodal Dystrophy, Central Areolar 2 AATF 1731 95% . AATK 4330 61% . ABAT 1563 99% GABA-Transaminase Deficiency ABCA1 6982 100% Tangier Disease ABCA1 6982 100% Familial High Density Lipoprotein Deficiency ABCA1 6982 100% ABCA1-Associated Familial High Density Lipoprotein Deficiency ABCA10 4780 100% . ABCA12 8142 100% Autosomal Recessive Congenital Ichthyosis ABCA12 8142 100% ABCA12-Related Autosomal Recessive Congenital Ichthyosis ABCA12 8142 100% Harlequin Ichthyosis ABCA13 15425 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 3

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ABCA2 7792 83% . ABCA3 5235 96% Pulmonary Surfactant Metabolism Dysfunction ABCA3 5235 96% ABCA3-Related Pulmonary Surfactant Metabolism Dysfunction ABCA4 7022 100% Retinitis Pigmentosa, Autosomal Recessive ABCA4 7022 100% ABCA4-Related Stargardt Disease 1 ABCA4 7022 100% Age-Related Macular Degeneration ABCA4 7022 100% Retinitis Pigmentosa ABCA4 7022 100% Cone-Rod Dystrophy 3 ABCA4 7022 100% ABCA4-Related Retinitis Pigmentosa ABCA4 7022 100% Age-Related Macular Degeneration 2 ABCA4 7022 100% Stargardt Disease, Autosomal Recessive ABCA4 7022 100% Choriodal Dystrophy, Central Areolar 2 ABCA5 5081 100% . ABCA6 5006 100% . ABCA7 6625 90% . ABCA8 4894 100% . ABCA9 5027 100% . ABCB1 3951 100% . ABCB10 2269 77% . ABCB11 4074 100% Low Gamma-GT Familial Intrahepatic Cholestasis ABCB11 4074 100% ABCB11-Related Intrahepatic Cholestasis ABCB4 4201 100% Progressive Familial Intrahepatic Cholestasis 3 ABCB4 4201 100% Cholestasis, Familial Intrahepatic, of Pregnancy ABCB4 4201 100% Gallbladder Disease 1 ABCB5 4131 100% . ABCB6 2605 99% . ABCB7 2326 98% X-Linked Sideroblastic Anemia and Ataxia ABCB7 2326 98% Congenital Sideroblastic Anemia ABCB7 2326 98% Choriodal Dystrophy, Central Areolar 2 ABCB8 2221 100% . ABCB9 2345 86% . ABCC1 4720 98% . ABCC10 6054 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 4

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ABCC11 4265 99% . ABCC12 4196 100% . ABCC2 4766 100% Dubin-Johnson Syndrome ABCC2 4766 100% Choriodal Dystrophy, Central Areolar 2 ABCC3 5084 98% . ABCC4 4151 99% . ABCC5 4470 100% . ABCC6 4985 92% Pseudoxanthoma Elasticum ABCC6 4985 92% Choriodal Dystrophy, Central Areolar 2 ABCC8 4902 95% Familial Hyperinsulinism ABCC8 4902 95% ABCC8-Related Hyperinsulinism ABCC8 4902 95% Permanent Neonatal Diabetes Mellitus ABCC8 4902 95% ABCC8-Related Permanent Neonatal Diabetes Mellitus ABCC8 4902 95% ABCC8-Related Transient Neonatal Diabetes Mellitus 2 ABCC8 4902 95% Choriodal Dystrophy, Central Areolar 2 ABCC9 4944 100% Dilated Cardiomyopathy ABCC9 4944 100% ABCC9-Related Dilated Cardiomyopathy ABCC9 4944 100% Hypertrichotic Osteochondrodysplasia ABCD1 2278 82% Adrenoleukodystrophy, X-Linked ABCD1 2278 82% Choriodal Dystrophy, Central Areolar 2 ABCD2 2263 100% . ABCD3 2103 100% . ABCD4 1897 100% Disorders of Intracellular Cobalamin Metabolism ABCD4 1897 100% cbIJ ABCE1 1868 100% . ABCF1 2638 100% . ABCF2 2111 100% . ABCF3 2214 100% . ABCG1 2702 96% . ABCG2 2028 100% . ABCG4 1997 100% . ABCG5 2008 89% Sitosterolemia ABCG8 2074 97% Sitosterolemia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 5

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ABHD1 1254 100% . ABHD10 941 100% . ABHD11 1112 98% . ABHD12 1311 85% Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract ABHD12B 920 88% . ABHD13 1018 100% . ABHD14A 836 91% . ABHD14B 645 100% . ABHD15 1415 86% . ABHD16A 1918 100% . ABHD16B 1414 55% . ABHD2 1314 100% . ABHD3 1266 96% . ABHD4 1057 97% . ABHD5 1078 100% Chanarin-Dorfman Syndrome ABHD6 1046 100% . ABHD8 1336 100% . ABI1 1811 97% . ABI2 1468 100% . ABI3 1305 82% . ABI3BP 3368 100% . ABL1 3577 98% . ABL2 7214 99% . ABLIM1 2673 100% . ABLIM2 2402 99% . ABLIM3 2144 100% . ABO 1092 97% . ABP1 2272 100% . ABR 3000 93% . ABRA 1154 100% . ABT1 831 100% . ABTB1 1649 97% . ABTB2 3146 80% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 6

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ACAA1 1323 90% . ACAA2 1234 92% . ACACA 7827 100% . ACACB 7585 100% . ACAD10 3357 97% . ACAD11 2423 100% . ACAD8 1292 94% Isobutyryl-CoA Dehydrogenase Deficiency ACAD9 1938 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) ACAD9 1938 100% Acyl-CoA Dehydrogenase 9 Deficiency ACADL 1337 96% Long-Chain Acyl-CoA Dehydrogenase Deficiency ACADM 1430 100% Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM 1430 100% Choriodal Dystrophy, Central Areolar 2 ACADS 1279 93% Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS 1279 93% Choriodal Dystrophy, Central Areolar 2 ACADSB 1343 97% Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADVL 2048 95% Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADVL 2048 95% Choriodal Dystrophy, Central Areolar 2 ACAN 7661 89% . ACAP1 2311 93% . ACAP2 2429 98% . ACAP3 2601 72% . ACAT1 1332 94% Ketothiolase Deficiency ACAT1 1332 94% Choriodal Dystrophy, Central Areolar 2 ACAT2 1230 100% . ACBD3 1619 87% . ACBD4 1490 98% . ACBD5 1800 100% . ACBD6 881 100% . ACBD7 283 100% . ACCN1 2291 92% . ACCN2 2003 99% . ACCN3 2151 97% . ACCN4 2041 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 7

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ACCN5 1558 100% . ACCS 1562 99% . ACCSL 1763 100% . ACD 1926 100% . ACE 4224 92% Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE)) ACE 4224 92% Renal Tubular Dysgenesis, ACE-Related ACE 4224 92% Choriodal Dystrophy, Central Areolar 2 ACE2 2490 100% . ACER1 819 99% . ACER2 852 91% . ACER3 848 87% . ACHE 1996 93% . ACIN1 4544 99% . ACLY 3418 100% . ACMSD 1051 100% . ACN9 386 100% . ACO1 2750 100% . ACO2 2415 100% . ACOT1 1278 65% . ACOT11 2052 90% . ACOT12 1728 94% . ACOT13 451 96% . ACOT2 1464 95% . ACOT4 1278 88% . ACOT6 632 100% . ACOT7 1437 92% . ACOT8 984 100% . ACOT9 1411 98% . ACOX1 2368 100% Pseudoneonatal Adrenoleukodystrophy ACOX1 2368 100% Choriodal Dystrophy, Central Areolar 2 ACOX2 2102 100% . ACOX3 2262 92% . ACOXL 1811 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 8

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ACP1 1202 100% . ACP2 1539 99% . ACP5 994 100% . ACP6 1327 95% . ACPL2 1463 100% . ACPP 1521 100% . ACPT 1325 75% . ACR 1286 89% . ACRBP 1672 98% . ACRC 2124 99% . ACRV1 2834 100% . ACSBG1 2324 100% . ACSBG2 2053 97% . ACSF2 1912 94% . ACSF3 1767 97% . ACSL1 2177 100% . ACSL3 2219 100% . ACSL4 2547 100% X-Linked Mental Retardation 63 ACSL5 2493 100% . ACSL6 3149 100% . ACSM1 1786 100% . ACSM2A 1786 100% . ACSM2B 1786 100% . ACSM3 2156 100% . ACSM4 1795 100% . ACSM5 1792 100% . ACSS1 2375 97% . ACSS2 2421 92% . ACSS3 2125 99% . ACTA1 1158 100% Nemaline Myopathy ACTA1 1158 100% Congenital Fiber-Type Disproportion ACTA1 1158 100% ACTA1-Related Congenital Fiber-Type Disproportion ACTA1 1158 100% ACTA1-Related Nemaline Myopathy UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 9

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ACTA1 1158 100% Childhood Restrictive Cardiomyopathy ACTA1 1158 100% Choriodal Dystrophy, Central Areolar 2 ACTA2 1166 100% Thoracic Aortic Aneurysms and Aortic Dissections ACTA2 1166 100% ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections ACTA2 1166 100% Multisystemic Smooth Muscle Dysfunction Syndrome (319694) ACTA2 1166 100% Moyamoya Disease 5 (319695) ACTA2 1166 100% Moyamoya Disease 5 ACTA2 1166 100% Multisystemic Smooth Muscle Dysfunction Syndrome ACTB 1148 100% . ACTBL2 1135 100% . ACTC1 1158 100% Familial Hypertrophic Cardiomyopathy ACTC1 1158 100% Dilated Cardiomyopathy ACTC1 1158 100% ACTC1-Related Dilated Cardiomyopathy ACTC1 1158 100% ACTC1-Related Familial Hypertrophic Cardiomyopathy ACTC1 1158 100% Atrial Septal Defect 5 ACTC1 1158 100% Left Ventricular Noncompaction 4 ACTC1 1158 100% Choriodal Dystrophy, Central Areolar 2 ACTG1 1148 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant ACTG1 1148 100% DFNA20/26 Nonsyndromic Hearing Loss and Deafness ACTG2 1163 100% . ACTL10 742 86% . ACTL6A 1525 100% . ACTL6B 1337 94% . ACTL7A 1312 100% . ACTL7B 1252 100% . ACTL8 1109 100% . ACTL9 1255 100% . ACTN1 2833 100% . ACTN2 2769 100% Familial Hypertrophic Cardiomyopathy ACTN2 2769 100% Dilated Cardiomyopathy ACTN2 2769 100% ACTN2-Related Dilated Cardiomyopathy ACTN2 2769 100% ACTN2-Related Familial Hypertrophic Cardiomyopathy ACTN3 2790 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 10

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ACTN4 2820 95% Focal Segmental Glomerulosclerosis ACTN4 2820 95% Focal Segmental Glomerulosclerosis 1 ACTR10 1306 100% . ACTR1A 1175 100% . ACTR1B 1175 97% . ACTR2 1240 98% . ACTR3 1305 96% . ACTR3B 1305 96% . ACTR3C 657 100% . ACTR5 1860 86% . ACTR6 1235 100% . ACTR8 1927 99% . ACTRT1 1135 100% . ACTRT2 1138 100% . ACVR1 1566 100% Fibrodysplasia Ossificans Progressiva ACVR1B 1925 91% . ACVR1C 1753 99% . ACVR2A 1586 100% . ACVR2B 1583 96% Heterotaxy Syndrome ACVR2B 1583 96% ACVR2B-Related Visceral Heterotaxy ACVRL1 1548 95% Hereditary Hemorrhagic Telangiectasia ACVRL1 1548 95% ACVRL1-Related Hereditary Hemorrhagic Telangiectasia ACVRL1 1548 95% Choriodal Dystrophy, Central Areolar 2 ACY1 1491 100% . ACY3 984 87% . ACYP1 611 100% . ACYP2 316 98% . ADA 1140 94% Adenosine Deaminase Deficiency ADA 1140 94% Choriodal Dystrophy, Central Areolar 2 ADAD1 2126 100% . ADAD2 2227 89% . ADAL 1315 77% . ADAM10 2311 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 11

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ADAM11 2418 92% . ADAM12 2930 98% . ADAM15 2892 93% . ADAM17 2551 97% . ADAM18 2536 100% . ADAM19 2849 94% . ADAM2 2288 100% . ADAM20 2335 100% . ADAM21 2173 100% . ADAM22 3015 99% . ADAM23 2603 92% . ADAM28 2732 100% . ADAM29 2467 100% . ADAM30 2377 100% . ADAM32 2464 97% . ADAM33 2530 73% . ADAM7 2353 100% . ADAM8 3037 60% . ADAM9 2548 99% Cone-Rod Dystrophy 9 ADAMDEC1 1550 100% . ADAMTS1 2940 95% . ADAMTS10 3408 86% ADAMTS10-Related Weill-Marchesani Syndrome ADAMTS10 3408 86% Weill-Marchesani Syndrome ADAMTS12 4881 100% . ADAMTS13 4890 90% Familial Thrombotic Thrombocytopenia Purpura ADAMTS14 3930 91% . ADAMTS15 2885 99% . ADAMTS16 3767 93% . ADAMTS17 3376 81% Weill-Marchesani-Like Syndrome ADAMTS18 3758 96% . ADAMTS19 3716 88% . ADAMTS2 3800 84% . ADAMTS20 5889 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 12

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ADAMTS3 3706 100% . ADAMTS4 2550 97% . ADAMTS5 2825 97% . ADAMTS6 3450 100% . ADAMTS7 5157 85% . ADAMTS8 2706 78% . ADAMTS9 5964 98% . ADAMTSL1 5502 100% . ADAMTSL2 2928 30% Geleophysic Dysplasia 1 ADAMTSL2 2928 30% Geleophysic Dysplasia ADAMTSL3 5192 100% . ADAMTSL4 3624 99% ADAMTSL4-Related Eye Disorders ADAMTSL5 1460 69% . ADAP1 1169 75% . ADAP2 1190 92% . ADAR 5756 100% Dyschromatosis Symmetrica Hereditaria 1 ADARB1 2463 95% . ADARB2 2260 83% . ADAT1 1545 100% . ADAT2 600 100% . ADAT3 1060 47% . ADC 1419 100% . ADCK1 1612 100% . ADCK2 1913 98% . ADCK3 2000 96% Coenzyme Q10 Deficiency ADCK3 2000 96% CABC1-Related Coenzyme Q10 Deficiency ADCK3 2000 96% Spinocerebellar Ataxia, Autosomal Recessive, 9 ADCK4 1691 98% . ADCK5 1803 60% . ADCY1 3440 93% . ADCY10 5171 100% . ADCY2 3376 100% . ADCY3 3519 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 13

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ADCY4 3334 91% . ADCY5 3958 85% . ADCY6 3591 99% . ADCY7 3343 90% . ADCY8 3828 94% . ADCY9 4102 96% . ADCYAP1 547 87% . ADCYAP1R1 1643 100% . ADD1 3107 100% . ADD2 3001 100% . ADD3 2177 100% . ADH1A 1164 100% . ADH1B 1164 100% . ADH1C 1164 100% . ADH4 1179 100% . ADH5 1161 100% . ADH6 1315 100% . ADH7 1279 95% . ADHFE1 1460 96% . ADI1 556 78% . ADIG 251 100% . ADIPOQ 743 100% . ADIPOR1 1156 100% . ADIPOR2 1189 100% . ADK 1151 94% Hypermethioninemia due to Adenosine Kinase Deficiency ADM 570 100% . ADM2 455 76% . ADNP 3321 100% . ADNP2 3408 100% . ADO 817 84% . ADORA1 989 100% . ADORA2A 1247 100% . ADORA2B 1007 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 14

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ADORA3 1790 100% . ADPGK 1519 85% . ADPRH 1086 100% . ADPRHL1 1262 96% . ADPRHL2 1116 81% . ADRA1A 2222 93% . ADRA1B 1571 80% . ADRA1D 1727 72% . ADRA2A 1402 81% . ADRA2B 1348 99% . ADRA2C 1393 71% . ADRB1 1438 82% . ADRB2 1246 100% Asthma, Susceptibility to ADRB2 1246 100% Obesity ADRB3 1235 45% . ADRBK1 2154 96% . ADRBK2 2151 96% . ADRM1 1260 95% . ADSL 1507 100% Adenylosuccinase Deficiency ADSS 1423 99% . ADSSL1 1751 75% . AEBP1 3561 97% . AEBP2 1629 73% . AEN 990 99% . AES 1080 69% . AFAP1 2513 99% . AFAP1L1 2383 93% . AFAP1L2 2731 95% . AFF1 3986 99% . AFF2 4495 99% X-Linked Mental Retardation Associated with Fragile Site FRAXE AFF2 4495 99% Choriodal Dystrophy, Central Areolar 2 AFF3 3848 98% . AFF4 3572 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 15

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AFG3L2 2462 95% Spinocerebellar Ataxia Type28 AFM 1856 100% . AFMID 1126 95% . AFP 1886 100% . AFTPH 3005 100% . AGA 1269 100% Aspartylglycosaminuria AGA 1269 100% Choriodal Dystrophy, Central Areolar 2 AGAP1 2646 100% . AGAP11 1669 100% . AGAP2 3819 84% . AGAP3 2875 96% . AGAP4 2020 76% . AGAP5 2093 100% . AGAP6 2093 100% . AGAP7 2020 95% . AGAP8 2020 69% . AGAP9 4018 13% . AGBL1 3293 100% . AGBL2 2781 96% . AGBL3 2827 67% . AGBL4 1568 99% . AGBL5 3066 100% . AGER 2131 100% . AGFG1 1913 100% . AGFG2 1494 86% . AGGF1 2201 100% . AGK 1329 98% . AGL 5046 100% Glycogen Storage Disease Type III AGL 5046 100% Choriodal Dystrophy, Central Areolar 2 AGMAT 1087 83% . AGMO 1390 100% . AGPAT1 876 100% . AGPAT2 861 89% Berardinelli-Seip Congenital Lipodystrophy UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 16

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AGPAT2 861 89% Berardinelli-Seip Congenital Lipodystrophy Type 1 AGPAT3 1163 100% . AGPAT4 1169 100% . AGPAT5 1127 100% . AGPAT6 1419 94% . AGPAT9 1353 100% . AGPHD1 1144 99% . AGPS 2057 88% Rhizomelic Chondrodysplasia Punctata Type 3 AGPS 2057 88% Choriodal Dystrophy, Central Areolar 2 AGR2 556 100% . AGR3 529 100% . AGRN 6282 72% Congenital Myasthenic Syndromes AGRN 6282 72% AGRN-Related Congenital Myasthenic Syndrome AGRP 411 100% . AGT 1474 100% Cardiovascular Disease Risk Factor (Angiotensinogen) AGT 1474 100% Renal Tubular Dysgenesis, AGT-Related AGT 1474 100% Choriodal Dystrophy, Central Areolar 2 AGTPBP1 3661 100% . AGTR1 1084 100% Cardiovascular Disease Risk Factor (Angiotensin II Receptor, Type 1) AGTR1 1084 100% Renal Tubular Dysgenesis, AGTR1-Related AGTR1 1084 100% Choriodal Dystrophy, Central Areolar 2 AGTR2 1096 100% X-Linked Mental Retardation 88 AGTRAP 1121 98% . AGXT 1223 75% Hyperoxaluria, Primary, Type 1 AGXT 1223 75% Hyperoxaluria, Primary AGXT 1223 75% Choriodal Dystrophy, Central Areolar 2 AGXT2 1601 94% . AGXT2L1 1721 100% . AGXT2L2 1401 96% . AHCTF1 6972 100% . AHCY 1534 98% Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency AHCYL1 1777 99% . AHCYL2 2142 88% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 17

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AHDC1 4816 94% . AHI1 3752 100% Joubert Syndrome and Related Disorders AHI1 3752 100% AHI1-Related Joubert Syndrome AHNAK 17801 100% . AHNAK2 17416 98% . AHR 2591 100% . AHRR 2251 93% . AHSA1 1053 84% . AHSA2 430 100% . AHSG 1132 100% . AHSP 317 100% . AICDA 617 100% Immunodeficiency with Hyper-IgM, Type 2 AIDA 961 98% . AIF1 1899 100% . AIF1L 818 88% . AIFM1 2165 97% Combined Oxidative Phosphorylation Deficiency 6 AIFM2 1154 99% . AIFM3 2152 91% . AIG1 741 100% . AIM1 5252 98% . AIM1L 5062 81% . AIM2 1052 100% . AIMP1 1177 100% . AIMP2 979 100% . AIP 1017 100% AIP-Related Familial Isolated Pituitary Adenomas AIPL1 1179 100% Retinitis Pigmentosa, Autosomal Dominant AIPL1 1179 100% Leber Congenital Amaurosis AIPL1 1179 100% Retinitis Pigmentosa AIPL1 1179 100% AIPL1-Related Leber Congenital Amaurosis AIPL1 1179 100% AIPL1-Related Retinitis Pigmentosa AIRE 2390 84% Autoimmune Polyendocrinopathy Syndrome Type 1 AIRE 2390 84% Choriodal Dystrophy, Central Areolar 2 AJAP1 1256 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 18

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AJUBA 1784 81% . AK1 609 98% . AK2 1078 95% . AK3 828 93% . AK4 692 93% . AK5 1936 97% . AK7 2244 100% . AK8 1492 87% . AKAP1 2752 100% . AKAP10 2049 96% . AKAP11 5750 100% . AKAP12 5390 97% . AKAP13 8793 100% . AKAP14 728 100% . AKAP17A 4208 45% . AKAP2 5323 97% . AKAP3 2574 100% . AKAP4 2589 100% . AKAP5 1288 100% . AKAP6 7008 100% . AKAP7 1135 100% . AKAP8 2135 100% . AKAP8L 1997 89% . AKAP9 12105 100% Romano-Ward Syndrome AKAP9 12105 100% Long QT Syndrome 11 AKD1 6105 90% . AKIP1 653 85% . AKIRIN1 599 63% . AKIRIN2 632 64% . AKNA 4404 94% . AKNAD1 2571 100% . AKR1A1 1010 100% . AKR1B1 991 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 19

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AKR1B10 991 100% . AKR1B15 1075 86% . AKR1C1 1008 91% . AKR1C2 1063 91% . AKR1C3 1129 100% . AKR1C4 1008 100% . AKR1D1 1064 100% Bile Acid Synthesis Defect, Congenital, 2 AKR1E2 1003 96% . AKR7A2 1108 85% . AKR7A3 1024 93% . AKT1 1495 100% Proteus Syndrome AKT1S1 787 61% . AKT2 1614 100% . AKT3 1540 100% PI3K/AKT Pathway Megalencephaly Syndromes AKTIP 915 100% . ALAD 1037 100% Acute Hepatic Porphyria ALAD 1037 100% Choriodal Dystrophy, Central Areolar 2 ALAS1 1963 100% . ALAS2 2080 92% X-Linked Sideroblastic Anemia ALAS2 2080 92% Erythropoietic Protoporphyria, X-Linked Dominant ALAS2 2080 92% Congenital Sideroblastic Anemia ALAS2 2080 92% Choriodal Dystrophy, Central Areolar 2 ALB 1886 100% Dysalbuminemic Hyperthyroxinemia ALCAM 2158 100% . ALDH16A1 2477 79% . ALDH18A1 2619 100% ALDH18A1-Related Cutis Laxa ALDH1A1 1558 100% . ALDH1A2 1754 100% . ALDH1A3 1591 93% . ALDH1B1 1558 100% . ALDH1L1 2797 95% . ALDH1L2 2864 98% . ALDH2 1606 90% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 20

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ALDH3A1 1402 99% . ALDH3A2 1586 93% Sjogren-Larsson Syndrome ALDH3A2 1586 93% Choriodal Dystrophy, Central Areolar 2 ALDH3B1 1440 80% . ALDH3B2 1190 100% . ALDH4A1 1849 83% Hyperprolinemia, Type II ALDH4A1 1849 83% Choriodal Dystrophy, Central Areolar 2 ALDH5A1 1691 79% Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1 1691 79% Choriodal Dystrophy, Central Areolar 2 ALDH6A1 1656 100% Methylmalonate Semialdehyde Dehydrogenase Deficiency ALDH7A1 2084 99% Pyridoxine-Dependent Epilepsy ALDH8A1 1492 100% . ALDH9A1 1601 100% . ALDOA 1243 100% Aldolase A Deficiency ALDOA 1243 100% Choriodal Dystrophy, Central Areolar 2 ALDOB 1127 100% Hereditary Fructose Intolerance ALDOB 1127 100% Choriodal Dystrophy, Central Areolar 2 ALDOC 1127 100% . ALG1 1447 93% Congenital Disorders of Glycosylation ALG1 1447 93% ALG1-CDG (CDG-Ik) ALG10 1434 100% . ALG10B 1434 100% . ALG11 1495 100% Congenital Disorders of Glycosylation ALG11 1495 100% ALG11-CDG (CDG-Ip) ALG12 1503 100% Congenital Disorders of Glycosylation ALG12 1503 100% ALG12-CDG (CDG-Ig) ALG13 3950 98% Congenital Disorders of Glycosylation ALG13 3950 98% ALG13-CDG ALG14 667 100% . ALG1L 774 100% . ALG1L2 680 96% . ALG2 1259 91% Congenital Disorders of Glycosylation ALG2 1259 91% ALG2-CDG (CDG-Ii) UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 21

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ALG3 1409 100% Congenital Disorders of Glycosylation ALG3 1409 100% ALG3-CDG (CDG-Id) ALG5 1112 100% . ALG6 1580 100% Congenital Disorders of Glycosylation ALG6 1580 100% ALG6-CDG (CDG-Ic) ALG8 1692 94% Congenital Disorders of Glycosylation ALG8 1692 94% ALG8-CDG (CDG-Ih) ALG9 2302 88% Congenital Disorders of Glycosylation ALG9 2302 88% ALG9-CDG (CDG-IL) ALK 4979 98% Neuroblastoma, Susceptibility ALK 4979 98% ALK-Related Neuroblastoma Susceptibility ALKBH1 1194 100% . ALKBH2 1109 100% . ALKBH3 897 100% . ALKBH4 921 94% . ALKBH5 1201 89% . ALKBH6 950 72% . ALKBH7 682 71% . ALKBH8 2039 100% . ALLC 1220 100% . ALMS1 12596 98% Alstrom Syndrome ALOX12 2048 91% . ALOX12B 2166 89% Autosomal Recessive Congenital Ichthyosis ALOX12B 2166 89% ALOX12B-Related Autosomal Recessive Congenital Ichthyosis ALOX15 2045 93% . ALOX15B 2261 92% . ALOX5 2264 88% . ALOX5AP 580 100% . ALOXE3 3060 94% Autosomal Recessive Congenital Ichthyosis ALOXE3 3060 94% ALOXE3-Related Autosomal Recessive Congenital Ichthyosis ALPI 1631 94% . ALPK1 3916 100% . ALPK2 6561 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 22

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ALPK3 5780 90% . ALPL 1867 100% Hypophosphatasia ALPL 1867 100% Choriodal Dystrophy, Central Areolar 2 ALPP 1652 95% . ALPPL2 1643 82% . ALS2 6204 99% Amyotrophic Lateral Sclerosis ALS2 6204 99% ALS2-Related Disorders ALS2CL 3063 94% . ALS2CR11 6204 100% . ALS2CR12 1557 100% . ALS2CR8 2234 100% . ALX1 997 100% . ALX3 1048 79% Frontorhiny ALX4 1252 86% Parietal Foramina 2 ALX4 1252 86% Enlarged Parietal Foramina/Cranium Bifidum ALYREF 819 69% . AMACR 2055 98% Alpha-Methylacyl-CoA Racemase Deficiency AMBN 1396 100% . AMBP 1099 100% . AMBRA1 3699 100% . AMD1 1088 99% . AMDHD1 1317 89% . AMDHD2 2274 93% . AMELX 642 100% Amelogenesis Imperfecta, Type 1E AMELY 599 95% . AMFR 1988 87% . AMH 1703 47% . AMHR2 2208 100% . AMICA1 1238 100% . AMIGO1 1486 100% . AMIGO2 1573 100% . AMIGO3 1519 100% . AMMECR1 1503 77% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 23

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AMMECR1L 957 100% . AMN 1410 44% Megaloblastic Anemia AMN1 805 95% . AMOT 3823 87% . AMOTL1 2923 99% . AMOTL2 2379 100% . AMPD1 2407 100% Myoadenylate Deaminase Deficiency AMPD1 2407 100% Choriodal Dystrophy, Central Areolar 2 AMPD2 2915 100% . AMPD3 2808 99% Erythrocyte AMP Deaminase Deficiency AMPH 2172 95% . AMT 1459 100% Glycine Encephalopathy AMT 1459 100% AMT-Related Glycine Encephalopathy AMT 1459 100% Choriodal Dystrophy, Central Areolar 2 AMTN 662 100% . AMY1A 4728 12% . AMY1B 4728 12% . AMY1C 4728 12% . AMY2A 1576 73% . AMY2B 1576 100% . AMZ1 1521 90% . AMZ2 1107 100% . ANAPC1 6023 90% . ANAPC10 574 100% . ANAPC11 788 100% . ANAPC13 233 100% . ANAPC16 345 100% . ANAPC2 2521 97% . ANAPC4 2539 100% . ANAPC5 2636 100% . ANAPC7 2007 100% . ANG 448 100% Amyotrophic Lateral Sclerosis ANG 448 100% ANG-Related Amyotrophic Lateral Sclerosis UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 24

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ANGEL1 2053 97% . ANGEL2 1671 100% . ANGPT1 1770 100% . ANGPT2 1662 100% . ANGPT4 1548 96% . ANGPTL1 1492 100% . ANGPTL2 1498 100% . ANGPTL3 1411 100% . ANGPTL4 1249 78% . ANGPTL5 1199 100% . ANGPTL6 1433 71% . ANGPTL7 1061 100% . ANK1 7006 97% Spherocytosis, Type 1 ANK2 12123 99% Long QT Syndrome 4 ANK3 13639 100% . ANKAR 4393 100% . ANKDD1A 1629 87% . ANKFN1 2360 100% . ANKFY1 4001 98% . ANKH 1527 100% Craniometaphyseal Dysplasia, Autosomal Dominant ANKH 1527 100% Craniometaphyseal Dysplasia ANKH 1527 100% Chondrocalcinosis 2 ANKH 1527 100% Choriodal Dystrophy, Central Areolar 2 ANKHD1 8138 98% . ANKHD1-EIF4EBP3 8023 98% . ANKIB1 3346 100% . ANKK1 2330 94% . ANKLE1 1884 86% . ANKLE2 2869 88% . ANKMY1 3355 99% . ANKMY2 1366 100% . ANKRA2 974 100% . ANKRD1 996 100% Dilated Cardiomyopathy UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 25

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ANKRD1 996 100% ANKRD1-Related Dilated Cardiomyopathy ANKRD10 1287 88% . ANKRD11 8036 95% KBG Syndrome ANKRD12 6237 100% . ANKRD13A 1833 95% . ANKRD13B 1941 79% . ANKRD13C 1678 99% . ANKRD13D 1878 72% . ANKRD16 1276 94% . ANKRD17 7948 98% . ANKRD18A 3043 100% . ANKRD2 1119 70% . ANKRD20A1 2532 68% . ANKRD20A2 5064 25% . ANKRD20A3 7596 40% . ANKRD20A4 2532 88% . ANKRD22 600 100% . ANKRD23 954 88% . ANKRD24 3525 68% . ANKRD26 5444 100% . ANKRD27 3265 99% . ANKRD28 3274 99% . ANKRD29 946 97% . ANKRD30A 4166 93% . ANKRD30B 4323 92% . ANKRD31 5722 43% . ANKRD32 3257 100% . ANKRD33 3245 100% . ANKRD33B 1501 45% . ANKRD34A 1495 100% . ANKRD34B 1549 100% . ANKRD34C 1612 0% . ANKRD35 3058 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 26

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ANKRD36 6126 85% . ANKRD36B 4234 68% . ANKRD37 497 100% . ANKRD39 568 96% . ANKRD40 1127 100% . ANKRD42 1210 100% . ANKRD44 3221 99% . ANKRD45 821 100% . ANKRD46 699 100% . ANKRD49 728 100% . ANKRD5 2367 100% . ANKRD50 4536 100% . ANKRD52 3343 100% . ANKRD53 2442 94% . ANKRD54 935 94% . ANKRD55 1889 100% . ANKRD6 2345 98% . ANKRD63 1147 0% . ANKRD65 2333 0% . ANKRD7 789 100% . ANKRD9 958 25% . ANKS1A 3501 96% . ANKS1B 5045 100% . ANKS3 2031 96% . ANKS4B 1262 100% . ANKS6 2676 86% . ANKUB1 1659 53% . ANKZF1 2233 100% . ANLN 3561 100% . ANO1 3065 99% . ANO10 2031 99% Spinocerebellar Ataxia, Autosomal Recessive, 10 ANO2 3101 100% . ANO3 3054 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 27

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ANO4 2863 100% . ANO5 2885 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive ANO5 2885 100% ANO5-Related Muscle Diseases ANO5 2885 100% Miyoshi Muscular Dystrophy 3 ANO5 2885 100% Limb-Girdle Muscular Dystrophy Type 2L ANO6 3101 91% . ANO7 3193 90% . ANO8 3771 68% . ANO9 2441 86% . ANP32A 778 100% . ANP32B 784 96% . ANP32C 709 100% . ANP32D 400 100% . ANP32E 989 100% . ANPEP 2984 100% . ANTXR1 1844 91% . ANTXR2 1704 100% Hyalinosis, Inherited Systemic ANXA1 1089 100% . ANXA10 1023 100% . ANXA11 1574 95% . ANXA13 1122 100% . ANXA2 1189 97% . ANXA3 1020 100% . ANXA4 1014 100% . ANXA5 1011 100% . ANXA6 2217 100% . ANXA7 1519 100% . ANXA8 2064 9% . ANXA8L1 2064 9% . ANXA8L2 1032 46% . ANXA9 1086 100% . AOAH 2504 100% . AOC2 2577 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 28

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AOC3 2308 100% . AOX1 4157 99% . AP1AR 949 91% . AP1B1 3088 94% . AP1G1 2672 100% . AP1G2 2442 100% . AP1M1 1360 94% . AP1M2 1320 100% . AP1S1 497 99% . AP1S2 490 100% X-linked Mental Retardation 59 AP1S3 485 99% . AP2A1 3030 94% . AP2A2 3060 97% . AP2B1 2940 100% . AP2M1 1643 100% . AP2S1 449 100% . AP3B1 3393 100% Hermansky-Pudlak Syndrome AP3B1 3393 100% Hermansky-Pudlak Syndrome 2 AP3B2 3353 94% . AP3D1 3952 93% . AP3M1 1289 100% . AP3M2 1289 100% . AP3S1 606 98% . AP3S2 606 88% . AP4B1 2489 100% . AP4E1 3626 100% . AP4M1 1422 100% . AP4S1 709 100% . APAF1 4196 100% . APBA1 2562 95% . APBA2 2298 100% . APBA3 1768 64% . APBB1 2442 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 29

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) APBB1IP 2053 90% . APBB2 2729 100% . APBB3 1968 100% . APC 8761 98% APC-Associated Polyposis Conditions APC 8761 98% Colon Cancer (APC I1307K related) APC 8761 98% Turcot Syndrome APC 8761 98% Choriodal Dystrophy, Central Areolar 2 APC2 6968 58% . APCDD1 1565 97% . APCDD1L 1522 80% . APCS 680 100% . APEH 2287 94% . APEX1 973 100% . APEX2 1581 94% . APH1A 1151 98% . APH1B 798 100% . API5 1882 100% . APIP 757 100% . APITD1 437 87% . APITD1-CORT 738 93% . APLF 1576 94% . APLN 242 62% . APLNR 1147 100% . APLP1 2055 86% . APLP2 2364 95% . APOA1 816 99% Familial Visceral Amyloidosis APOA1 816 99% Familial High Density Lipoprotein Deficiency APOA1 816 99% APOA1-Associated Familial High Density Lipoprotein Deficiency APOA1 816 99% APOA1-Related Familial Visceral Amyloidosis APOA1BP 891 100% . APOA2 315 100% . APOA4 1203 100% . APOA5 1113 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 30

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) APOB 13808 99% Familial Hypercholesterolemia Type B APOB 13808 99% Choriodal Dystrophy, Central Areolar 2 APOBEC1 731 100% . APOBEC2 683 100% . APOBEC3A 639 99% . APOBEC3B 1181 100% . APOBEC3C 589 100% . APOBEC3D 1189 100% . APOBEC3F 1289 93% . APOBEC3G 1187 100% . APOBEC3H 709 82% . APOBEC4 1108 100% . APOBR 3287 87% . APOC1 264 100% . APOC2 318 100% Apolipoprotein C-II Deficiency APOC3 312 100% . APOC4 396 96% . APOD 586 100% . APOE 966 63% Cardiovascular Disease Risk Factor (Apolipoprotein E) APOE 966 63% Alzheimer Disease Type 2 APOE 966 63% Alzheimer Disease Risk Factor (APOE Genotype) APOE 966 63% Choriodal Dystrophy, Central Areolar 2 APOF 989 100% . APOH 1070 100% . APOL1 1336 100% End-Stage Renal Disease, Nondiabetic, Susceptibility to APOL2 1026 100% . APOL3 2084 100% . APOL4 1109 100% . APOL5 1318 100% . APOL6 1040 100% . APOLD1 855 63% . APOM 750 97% . APOO 629 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 31

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) APOOL 843 100% . APOPT1 641 78% . APP 2557 98% Early-Onset Familial Alzheimer Disease APP 2557 98% Alzheimer Disease Type 1 APP 2557 98% Choriodal Dystrophy, Central Areolar 2 APPBP2 1810 100% . APPL1 2218 97% . APPL2 2245 97% . APRT 710 80% Adenine Phosphoribosyltransferase Deficiency APRT 710 80% Choriodal Dystrophy, Central Areolar 2 APTX 1859 100% Ataxia with Oculomotor Apraxia 1 APTX 1859 100% Coenzyme Q10 Deficiency APTX 1859 100% APTX-Related Coenzyme Q10 Deficiency APTX 1859 100% Choriodal Dystrophy, Central Areolar 2 AQP1 1597 100% . AQP10 930 100% . AQP11 828 100% . AQP12A 904 61% . AQP12B 936 65% . AQP2 832 100% Nephrogenic Diabetes Insipidus, Autosomal AQP2 832 100% Nephrogenic Diabetes Insipidus AQP2 832 100% Choriodal Dystrophy, Central Areolar 2 AQP3 903 89% . AQP4 1411 100% . AQP5 814 100% . AQP6 865 100% . AQP7 1057 100% . AQP8 810 100% . AQP9 912 100% . AQPEP 3053 100% . AQR 4598 100% . AR 2819 88% Spinal and Bulbar Muscular Atrophy AR 2819 88% Androgen Insensitivity Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 32

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AR 2819 88% Choriodal Dystrophy, Central Areolar 2 ARAF 2087 89% . ARAP1 4557 87% . ARAP2 5243 100% . ARAP3 4763 98% . ARC 1195 91% . ARCN1 1576 100% . AREG 1558 65% . ARF1 562 100% . ARF3 562 100% . ARF4 567 100% . ARF5 567 94% . ARF6 532 100% . ARFGAP1 1384 96% . ARFGAP2 1630 95% . ARFGAP3 1615 96% . ARFGEF1 5706 100% . ARFGEF2 5514 98% Periventricular Heterotopia, Autosomal Recessive ARFIP1 1154 100% . ARFIP2 1379 100% . ARFRP1 747 90% . ARG1 1180 100% Arginase Deficiency ARG1 1180 100% Choriodal Dystrophy, Central Areolar 2 ARG2 1097 100% . ARGFX 964 87% . ARGLU1 838 100% . ARHGAP1 1368 93% . ARHGAP10 2453 100% . ARHGAP11A 3309 100% . ARHGAP11B 828 100% . ARHGAP12 2613 100% . ARHGAP15 1480 100% . ARHGAP17 2726 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 33

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ARHGAP18 2052 100% . ARHGAP19 1533 100% . ARHGAP20 3636 99% . ARHGAP21 5977 100% . ARHGAP22 2403 76% . ARHGAP23 4572 47% . ARHGAP24 2526 100% . ARHGAP25 2481 100% . ARHGAP26 2817 100% . ARHGAP27 2507 73% . ARHGAP28 1777 100% . ARHGAP29 3874 100% . ARHGAP30 6602 100% . ARHGAP31 4383 100% Adams-Oliver Syndrome 1 ARHGAP32 6506 100% . ARHGAP33 7144 87% . ARHGAP35 4524 100% . ARHGAP36 1688 100% . ARHGAP39 3389 82% . ARHGAP4 3053 76% . ARHGAP40 2085 81% . ARHGAP42 2721 85% . ARHGAP44 2541 90% . ARHGAP5 4685 100% . ARHGAP6 3658 85% . ARHGAP8 1839 99% . ARHGAP9 2666 96% . ARHGDIA 839 100% . ARHGDIB 626 100% . ARHGDIG 702 85% . ARHGEF1 2943 95% . ARHGEF10 4147 100% . ARHGEF10L 3952 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 34

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ARHGEF11 4853 100% . ARHGEF12 4799 100% . ARHGEF15 2586 100% . ARHGEF16 2186 79% . ARHGEF17 6276 94% . ARHGEF18 4144 86% . ARHGEF19 2469 87% . ARHGEF2 3346 95% . ARHGEF25 2025 95% . ARHGEF26 2781 100% . ARHGEF3 1943 89% . ARHGEF33 2677 92% . ARHGEF35 1459 86% . ARHGEF37 2076 100% . ARHGEF38 832 100% . ARHGEF4 2387 94% . ARHGEF40 4652 97% . ARHGEF5 4850 66% . ARHGEF6 2419 100% X-Linked Mental Retardation 46 ARHGEF7 2988 93% . ARHGEF9 1821 93% Hyperekplexia ARHGEF9 1821 93% ARHGEF9-Related Hyperekplexia ARID1A 7834 89% ARID1A-Related Coffin-Siris Syndrome ARID1A 7834 89% Coffin-Siris Syndrome ARID1B 6830 80% ARID1B-Related Coffin-Siris Syndrome ARID1B 6830 80% Coffin-Siris Syndrome ARID2 5592 100% . ARID3A 1814 77% . ARID3B 1715 100% . ARID3C 1267 91% . ARID4A 4077 100% . ARID4B 4031 100% . ARID5A 1813 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 35

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ARID5B 3607 100% . ARIH1 1730 97% . ARIH2 1538 100% . ARL1 570 100% . ARL10 751 76% . ARL11 595 100% . ARL13A 932 100% . ARL13B 1581 100% Joubert Syndrome and Related Disorders ARL13B 1581 100% ARL13B-Related Joubert Syndrome ARL14 583 100% . ARL15 635 100% . ARL16 614 100% . ARL17A 1338 21% . ARL17B 669 23% . ARL2 575 97% . ARL2BP 516 95% . ARL3 573 100% . ARL4A 607 100% . ARL4C 583 100% . ARL4D 610 100% . ARL5A 716 100% . ARL5B 564 100% . ARL5C 564 88% . ARL6 589 100% Bardet-Biedl Syndrome ARL6 589 100% Retinitis Pigmentosa ARL6 589 100% ARL6-Related Bardet-Biedl Syndrome ARL6 589 100% ARL6-Related Retinitis Pigmentosa ARL6IP1 636 99% . ARL6IP4 1765 61% . ARL6IP5 579 100% . ARL6IP6 697 100% . ARL8A 643 100% . ARL8B 589 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 36

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ARL9 384 100% . ARMC1 873 100% . ARMC10 1060 96% . ARMC12 1128 100% . ARMC2 2672 100% . ARMC3 2691 100% . ARMC4 3211 100% . ARMC5 3958 97% . ARMC6 1709 100% . ARMC7 609 100% . ARMC8 2300 100% . ARMC9 2078 100% . ARMCX1 1366 100% . ARMCX2 1903 100% . ARMCX3 1144 100% . ARMCX5 1681 100% . ARMCX5-GPRASP2 2521 100% . ARMCX6 907 74% . ARMS2 332 91% Age-Related Macular Degeneration ARMS2 332 91% Age-Related Macular Degeneration 8 ARNT 2625 99% . ARNT2 2230 98% . ARNTL 1957 100% . ARNTL2 2155 97% . ARPC1A 1326 99% . ARPC1B 1155 80% . ARPC2 943 100% . ARPC3 565 100% . ARPC4 752 98% . ARPC4-TTLL3 2069 100% . ARPC5 472 100% . ARPC5L 478 68% . ARPM1 1127 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 37

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ARPP19 351 100% . ARPP21 2524 100% . ARR3 1231 93% . ARRB1 1321 92% . ARRB2 1290 98% . ARRDC1 1334 91% . ARRDC2 1519 82% . ARRDC3 1277 100% . ARRDC4 1289 76% . ARRDC5 1041 100% . ARSA 1807 83% Arylsulfatase A Deficiency ARSA 1807 83% Choriodal Dystrophy, Central Areolar 2 ARSB 1667 97% Mucopolysaccharidosis Type VI ARSB 1667 97% Choriodal Dystrophy, Central Areolar 2 ARSD 1822 91% . ARSE 1810 100% Chondrodysplasia Punctata 1, X-Linked ARSE 1810 100% Choriodal Dystrophy, Central Areolar 2 ARSF 1813 100% . ARSG 1622 100% . ARSH 1725 100% . ARSI 1718 99% . ARSJ 1808 100% . ARSK 1643 100% . ART1 1000 100% . ART3 1214 100% . ART4 957 100% . ART5 892 92% . ARTN 866 53% . ARV1 836 100% . ARVCF 2957 90% . ARX 1709 30% X-Linked Lissencephaly with Ambiguous Genitalia ARX 1709 30% ARX-Related Disorders ARX 1709 30% Epileptic Encephalopathy, Early Infantile, 1 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 38

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ARX 1709 30% Agenesis of Corpus Callosum with Abnormal Genitalia AS3MT 1172 100% . ASAH1 1399 99% Farber Lipogranulomatosis ASAH1 1399 99% Choriodal Dystrophy, Central Areolar 2 ASAH2 2423 37% . ASAH2B 518 24% . ASAP1 3506 100% . ASAP2 3133 98% . ASAP3 2974 92% . ASB1 1028 95% . ASB10 1699 81% . ASB11 1234 100% . ASB12 938 99% . ASB13 861 76% . ASB14 2412 100% . ASB15 1803 100% . ASB16 1471 80% . ASB17 900 100% . ASB18 1425 51% . ASB2 1967 95% . ASB3 1769 100% . ASB4 1940 100% . ASB5 1018 100% . ASB6 1962 100% . ASB7 1595 100% . ASB8 879 100% . ASB9 1306 100% . ASCC1 1368 91% . ASCC2 2484 99% . ASCC3 6872 100% . ASCL1 715 84% . ASCL2 586 6% . ASCL3 550 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 39

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ASCL4 526 90% . ASF1A 631 82% . ASF1B 625 100% . ASGR1 908 100% . ASGR2 1232 100% . ASH1L 9003 100% . ASH2L 2101 95% . ASIP 411 89% . ASL 1459 98% Argininosuccinate Lyase Deficiency ASL 1459 98% Choriodal Dystrophy, Central Areolar 2 ASMT 2316 46% . ASMTL 4108 50% . ASNA1 1075 99% . ASNS 1983 100% . ASNSD1 1944 100% . ASPA 966 100% Canavan Disease ASPA 966 100% Choriodal Dystrophy, Central Areolar 2 ASPDH 916 85% . ASPG 1804 71% . ASPH 3159 97% . ASPHD1 1185 99% . ASPHD2 1122 100% . ASPM 10546 100% Primary Autosomal Recessive Microcephaly Type 5 ASPM 10546 100% Primary Autosomal Recessive Microcephaly ASPN 1373 100% . ASPRV1 1036 100% . ASPSCR1 1726 84% . ASRGL1 951 98% . ASS1 1295 100% Citrullinemia Type I ASS1 1295 100% Choriodal Dystrophy, Central Areolar 2 ASTE1 2056 100% . ASTL 1332 100% . ASTN1 4173 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 40

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ASTN2 5224 92% . ASUN 2185 100% . ASXL1 4684 99% Bohring-Opitz Syndrome ASXL2 4356 100% . ASXL3 6795 98% . ASZ1 1480 100% . ATAD1 1122 100% . ATAD2 4285 99% . ATAD2B 4690 99% . ATAD3A 2300 68% . ATAD3B 2011 83% . ATAD3C 1284 98% . ATAD5 5627 100% . ATAT1 1435 99% . ATCAY 1164 95% Cerebellar Ataxia, Cayman Type ATE1 1738 100% . ATF1 840 100% . ATF2 1897 100% . ATF3 1354 100% . ATF4 1064 100% . ATF5 857 87% . ATF6 2077 100% . ATF6B 2279 99% . ATF7 1983 100% . ATF7IP 3869 100% . ATF7IP2 2507 100% . ATG10 687 100% . ATG12 439 100% . ATG13 1742 100% . ATG14 1519 99% . ATG16L1 2084 94% . ATG16L2 1932 74% . ATG2A 5981 89% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 41

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ATG2B 6405 100% . ATG3 993 100% . ATG4A 1441 100% . ATG4B 1450 94% . ATG4C 1417 100% . ATG4D 1465 83% . ATG5 856 100% . ATG7 2184 100% . ATG9A 2576 100% . ATG9B 2826 80% . ATHL1 2266 89% . ATIC 1843 99% . ATL1 2295 100% Spastic Paraplegia 3A ATL2 1916 100% . ATL3 1678 99% . ATM 9419 100% Ataxia-Telangiectasia ATM 9419 100% Choriodal Dystrophy, Central Areolar 2 ATMIN 2488 93% . ATN1 3609 91% DRPLA ATN1 3609 91% Choriodal Dystrophy, Central Areolar 2 ATOH1 1069 100% . ATOH7 463 95% . ATOH8 978 93% . ATOX1 219 98% . ATP10A 4584 98% . ATP10B 4474 100% . ATP10D 4369 100% . ATP11A 3774 99% . ATP11B 3654 99% . ATP11C 3582 100% . ATP12A 3521 100% . ATP13A1 3719 92% . ATP13A2 4407 85% Kufor-Rakeb Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 42

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ATP13A3 3805 100% . ATP13A4 3711 100% . ATP13A5 3777 100% . ATP1A1 3295 99% . ATP1A2 3155 100% Familial Hemiplegic Migraine ATP1A2 3155 100% Familial Hemiplegic Migraine 2 ATP1A3 3225 99% Rapid-Onset Dystonia-Parkinsonism ATP1A4 3328 100% . ATP1B1 936 100% . ATP1B2 901 97% . ATP1B3 868 100% . ATP1B4 1375 100% . ATP2A1 3103 100% Brody Myopathy ATP2A2 3501 99% Darier-White Disease ATP2A2 3501 99% Choriodal Dystrophy, Central Areolar 2 ATP2A3 3604 87% . ATP2B1 4217 100% . ATP2B2 3820 100% . ATP2B3 4226 92% . ATP2B4 4193 100% . ATP2C1 3765 97% Benign Chronic Pemphigus ATP2C1 3765 97% Choriodal Dystrophy, Central Areolar 2 ATP2C2 2949 98% . ATP4A 3196 97% . ATP4B 904 89% . ATP5A1 1710 100% . ATP5B 1630 98% . ATP5C1 941 100% . ATP5D 523 54% . ATP5E 164 100% Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 3 ATP5F1 799 100% . ATP5G1 427 100% . ATP5G2 761 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 43

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ATP5G3 651 100% . ATP5H 506 100% . ATP5I 226 74% . ATP5J 542 97% . ATP5J2 365 96% . ATP5J2-PTCD1 2333 100% . ATP5L 324 100% . ATP5L2 307 99% . ATP5O 670 95% . ATP5S 1100 100% . ATP5SL 1020 96% . ATP6AP1 1453 88% . ATP6AP1L 691 100% . ATP6AP2 1089 96% X-Linked Mental Retardation with Epilepsy ATP6V0A1 2727 100% . ATP6V0A2 2651 99% ATP6V0A2-Related Cutis Laxa ATP6V0A4 2603 100% Renal Tubular Acidosis, Distal, Autosomal Recessive ATP6V0B 738 90% . ATP6V0C 480 97% . ATP6V0D1 1088 100% . ATP6V0D2 1085 100% . ATP6V0E1 258 100% . ATP6V0E2 752 69% . ATP6V1A 1910 100% . ATP6V1B1 1598 100% Distal Renal Tubular Acidosis with Progressive Nerve Deafness ATP6V1B2 1592 99% . ATP6V1C1 1197 100% . ATP6V1C2 1336 100% . ATP6V1D 780 100% . ATP6V1E1 717 100% . ATP6V1E2 685 100% . ATP6V1F 456 100% . ATP6V1G1 369 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 44

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ATP6V1G2 757 100% . ATP6V1G3 524 100% . ATP6V1H 1504 99% . ATP7A 4591 100% Menkes Disease ATP7A 4591 100% ATP7A-Related Copper Transport Disorders ATP7A 4591 100% Choriodal Dystrophy, Central Areolar 2 ATP7B 6958 100% Wilson Disease ATP7B 6958 100% Choriodal Dystrophy, Central Areolar 2 ATP8A1 3721 99% . ATP8A2 3715 95% . ATP8B1 3864 99% ATP8B1-Related Intrahepatic Cholestasis ATP8B1 3864 99% Low Gamma-GT Familial Intrahepatic Cholestasis ATP8B2 4317 100% . ATP8B3 4595 97% . ATP8B4 3687 100% . ATP9A 3256 98% . ATP9B 3564 97% . ATPAF1 1090 75% . ATPAF1-AS1 629 100% . ATPAF2 902 100% Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 1 ATPBD4 1030 97% . ATPIF1 478 100% . ATR 8123 100% Seckel Syndrome ATR 8123 100% Seckel Syndrome 1 ATRIP 2428 100% . ATRN 4842 82% . ATRNL1 4256 98% . ATRX 7619 100% Alpha-Thalassemia X-Linked Intellectual Disability Syndrome ATRX 7619 100% Mental Retardation-Hypotonic Facies Syndrome, X-Linked ATRX 7619 100% Choriodal Dystrophy, Central Areolar 2 ATXN1 2456 100% Spinocerebellar Ataxia Type 1 ATXN1 2456 100% Choriodal Dystrophy, Central Areolar 2 ATXN10 1476 92% Spinocerebellar Ataxia Type10 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 45

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ATXN10 1476 92% Choriodal Dystrophy, Central Areolar 2 ATXN1L 2074 0% . ATXN2 4042 82% Spinocerebellar Ataxia Type 2 ATXN2 4042 82% Choriodal Dystrophy, Central Areolar 2 ATXN2L 4303 98% . ATXN3 1390 100% Spinocerebellar Ataxia Type 3 ATXN3 1390 100% Choriodal Dystrophy, Central Areolar 2 ATXN3L 1072 100% . ATXN7 3068 95% Spinocerebellar Ataxia Type 7 ATXN7 3068 95% Choriodal Dystrophy, Central Areolar 2 ATXN7L1 3000 97% . ATXN7L2 2213 98% . ATXN7L3 1184 100% . ATXN7L3B 298 66% . AUH 1060 78% 3-Methylglutaconic Aciduria Type 1 AUP1 1281 93% . AURKA 1244 100% . AURKAIP1 612 88% . AURKB 1067 98% . AURKC 1013 93% Male Infertility with Large-Headed, Multiflagellar, Polyploid Spermatozoa AUTS2 4001 97% . AVEN 1113 76% . AVIL 2536 100% . AVL9 2011 95% . AVP 507 44% Neurohypophyseal Diabetes Insipidus AVPI1 452 99% . AVPR1A 1265 100% . AVPR1B 1283 100% . AVPR2 2057 96% Nephrogenic Diabetes Insipidus, X-Linked AVPR2 2057 96% Nephrogenic Diabetes Insipidus AVPR2 2057 96% Choriodal Dystrophy, Central Areolar 2 AVPR2 2057 96% Nephrogenic Syndrome of Inappropriate Antidiuresis AWAT1 1015 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 46

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) AWAT2 1030 98% . AXDND1 3187 100% . AXIN1 2629 89% . AXIN2 2572 96% Oligodontia-Colorectal Cancer Syndrome AXL 2765 97% . AZGP1 913 100% . AZI1 3343 86% . AZI2 1385 100% . AZIN1 1387 100% . AZU1 776 92% . B2M 372 100% . B3GALNT1 1000 100% . B3GALNT2 1551 93% . B3GALT1 985 100% . B3GALT2 1273 100% . B3GALT4 1141 100% . B3GALT5 937 100% . B3GALT6 994 48% . B3GALTL 1557 95% Peters Plus Syndrome B3GAT1 1021 95% . B3GAT2 988 90% . B3GAT3 1028 98% . B3GNT1 1256 86% . B3GNT2 1198 100% . B3GNT3 1127 100% . B3GNT4 1145 100% . B3GNT5 1141 100% . B3GNT6 4648 81% . B3GNT7 1214 99% . B3GNT8 1198 100% . B3GNT9 1213 73% . B3GNTL1 1134 86% . B4GALNT1 1642 87% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 47

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) B4GALNT2 1968 96% . B4GALNT3 3077 93% . B4GALNT4 3200 63% . B4GALT1 1221 95% Congenital Disorders of Glycosylation B4GALT1 1221 95% B4GALT1-CDG (CDG-IId) B4GALT2 1460 100% . B4GALT3 1206 100% . B4GALT4 1059 100% . B4GALT5 1203 100% . B4GALT6 1185 100% . B4GALT7 1008 95% . B9D1 788 93% Meckel Syndrome B9D1 788 93% B9D1-Related Meckel Syndrome B9D2 540 100% Meckel Syndrome B9D2 540 100% B9D2-Related Meckel Syndrome BAALC 565 83% . BAAT 1269 100% BAAT-Related Familial Hypercholanemia BABAM1 1022 100% . BACE1 1905 95% . BACE2 1851 88% . BACH1 2227 100% . BACH2 2542 100% . BAD 593 76% . BAG1 1521 86% . BAG2 648 98% . BAG3 1744 100% Dilated Cardiomyopathy BAG3 1744 100% Myofibrillar Myopathy BAG3 1744 100% BAG3-Related Myofibrillar Myopathy BAG3 1744 100% BAG3-Related Dilated Cardiomyopathy BAG4 1394 92% . BAG5 2851 100% . BAG6 4432 93% . BAGE 128 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 48

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BAGE2 351 100% . BAGE3 351 100% . BAGE4 128 100% . BAGE5 128 100% . BAHCC1 7770 80% . BAHD1 2367 100% . BAI1 4875 72% . BAI2 4882 84% . BAI3 4689 100% . BAIAP2 1882 94% . BAIAP2L1 1592 97% . BAIAP2L2 1646 73% . BAIAP3 4069 85% . BAK1 656 89% . BAMBI 795 93% . BANF1 278 100% Nestor-Guillermo Progeria Syndrome BANF2 439 95% . BANK1 2825 98% . BANP 2035 99% . BAP1 2258 95% Tumor Predisposition Syndrome BARD1 2378 100% BARD1-Related Susceptibility to Breast Cancer BARHL1 996 99% . BARHL2 1176 94% . BARX1 781 56% . BARX2 856 100% . BASP1 688 78% . BATF 390 100% . BATF2 837 93% . BATF3 396 76% . BAX 1187 97% . BAZ1A 4775 100% . BAZ1B 4528 98% . BAZ2A 5834 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 49

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BAZ2B 6647 100% . BBC3 1317 45% . BBIP1 702 71% . BBOX1 1192 100% . BBS1 1850 98% Bardet-Biedl Syndrome BBS1 1850 98% BBS1-Related Bardet-Biedl Syndrome BBS10 2180 100% Bardet-Biedl Syndrome BBS10 2180 100% BBS10-Related Bardet-Biedl Syndrome BBS12 2137 100% Bardet-Biedl Syndrome BBS12 2137 100% BBS12-Related Bardet-Biedl Syndrome BBS2 2234 100% Bardet-Biedl Syndrome BBS2 2234 100% BBS2-Related Bardet-Biedl Syndrome BBS4 1756 98% Bardet-Biedl Syndrome BBS4 1756 98% BBS4-Related Bardet-Biedl Syndrome BBS5 1074 100% Bardet-Biedl Syndrome BBS5 1074 100% BBS5-Related Bardet-Biedl Syndrome BBS7 2362 100% Bardet-Biedl Syndrome BBS7 2362 100% BBS7-Related Bardet-Biedl Syndrome BBS9 2752 100% Bardet-Biedl Syndrome BBS9 2752 100% BBS9-Related Bardet-Biedl Syndrome BBX 2886 100% . BCAM 2104 91% . BCAN 3585 98% . BCAP29 1361 100% . BCAP31 1114 86% . BCAR1 3838 86% . BCAR3 2522 100% . BCAS1 1799 100% . BCAS2 706 100% . BCAS3 2883 100% . BCAS4 860 67% . BCAT1 1258 96% Hyperleucine-Isoleucinemia BCAT2 1223 92% Hyperleucine-Isoleucinemia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 50

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BCCIP 1314 100% . BCDIN3D 887 100% . BCHE 1821 100% Butyrylcholinesterase Deficiency BCHE 1821 100% Choriodal Dystrophy, Central Areolar 2 BCKDHA 1520 97% Maple Syrup Urine Disease BCKDHA 1520 97% Maple Syrup Urine Disease Type 1A BCKDHA 1520 97% Choriodal Dystrophy, Central Areolar 2 BCKDHB 1219 90% Maple Syrup Urine Disease BCKDHB 1219 90% Maple Syrup Urine Disease Type 1B BCKDHB 1219 90% Choriodal Dystrophy, Central Areolar 2 BCKDK 1454 100% . BCL10 714 100% . BCL11A 6786 100% . BCL11B 2701 86% . BCL2 1383 100% . BCL2A1 708 100% . BCL2L1 1278 100% . BCL2L10 623 76% . BCL2L11 1637 92% . BCL2L12 1180 89% . BCL2L13 1482 100% . BCL2L14 1089 100% . BCL2L15 508 100% . BCL2L2 590 100% . BCL2L2-PABPN1 1030 100% . BCL3 1401 73% . BCL6 2153 99% . BCL6B 1472 100% . BCL7A 909 98% . BCL7B 633 95% . BCL7C 678 100% . BCL9 4309 100% . BCL9L 4532 88% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 51

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BCLAF1 4393 100% . BCMO1 1688 100% . BCO2 2412 100% . BCOR 5673 96% Lenz Microphthalmia Syndrome BCOR 5673 96% BCOR-Related Lenz Microphthalmia Syndrome BCOR 5673 96% Syndromic Microphthalmia 2 BCORL1 5184 97% . BCR 3908 90% . BCS1L 1288 100% Leigh Syndrome (nuclear DNA mutation) BCS1L 1288 100% Gracile Syndrome BCS1L 1288 100% Mitochondrial Respiratory Chain Complex III Deficiency, BCS1L-Related BDH1 1056 100% . BDH2 774 100% . BDKRB1 1066 100% . BDKRB2 1184 100% . BDNF 1872 100% . BDP1 8031 100% . BEAN1 2003 41% . BECN1 1397 98% . BEGAIN 1806 78% . BEND2 2716 95% . BEND3 2499 100% . BEND4 2092 77% . BEND5 1290 86% . BEND6 860 100% . BEND7 1879 100% . BEST1 3052 87% Retinitis Pigmentosa, Autosomal Dominant BEST1 3052 87% Best Vitelliform Macular Dystrophy BEST1 3052 87% Retinitis Pigmentosa BEST1 3052 87% BEST1-Related Retinitis Pigmentosa BEST1 3052 87% Vitreoretinochoroidopathy BEST1 3052 87% Choriodal Dystrophy, Central Areolar 2 BEST2 1566 72% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 52

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BEST3 2202 100% . BEST4 1458 60% . BET1 373 100% . BET1L 1229 98% . BET3L 566 100% . BEX1 382 100% . BEX2 910 87% . BEX4 367 100% . BEX5 340 100% . BFAR 1381 100% . BFSP1 2036 80% . BFSP2 1276 100% . BGLAP 319 90% . BGN 1135 99% . BHLHA15 574 43% . BHLHA9 712 0% . BHLHB9 1648 100% . BHLHE22 1150 64% . BHLHE23 682 47% . BHLHE40 1259 97% . BHLHE41 1469 55% . BHMT 1253 100% . BHMT2 1124 97% . BICC1 3009 100% . BICD1 3370 100% . BICD2 2920 95% . BID 968 100% . BIK 499 80% . BIN1 1907 77% Centronuclear Myopathy 2 BIN2 1750 100% . BIN3 798 98% . BIRC2 1889 100% . BIRC3 1847 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 53

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BIRC5 818 100% . BIRC6 14870 99% . BIRC7 1173 99% . BIRC8 715 100% . BIVM 1988 100% . BIVM-ERCC5 5098 100% . BLCAP 268 100% . BLID 331 100% . BLK 1566 98% . BLM 4338 100% Bloom's Syndrome BLMH 1416 99% . BLNK 1439 100% . BLOC1S1 394 100% . BLOC1S2 570 100% . BLOC1S3 613 49% Hermansky-Pudlak Syndrome BLOC1S3 613 49% Hermansky-Pudlak Syndrome 8 BLVRA 919 100% . BLVRB 641 89% . BLZF1 1227 100% . BMF 838 100% . BMI1 1017 100% . BMP1 3131 100% . BMP10 1283 100% . BMP15 1187 94% Ovarian Dysgenesis 2 BMP2 1199 98% . BMP2K 3788 95% . BMP3 1431 99% . BMP4 1235 100% Cleft Lip +/- Cleft Palate BMP4 1235 100% Anophthalmia/Microphthalmia BMP4 1235 100% Orofacial Cleft11 BMP4 1235 100% Syndromic Microphthalmia 6 BMP5 1393 100% . BMP6 1570 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 54

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BMP7 1324 83% . BMP8A 1237 70% . BMP8B 1260 69% . BMPER 2118 100% . BMPR1A 1643 100% Juvenile Polyposis Syndrome BMPR1A 1643 100% BMPR1A-Related Juvenile Polyposis BMPR1A 1643 100% Hereditary Mixed Polyposis Syndrome 2 BMPR1A 1643 100% Choriodal Dystrophy, Central Areolar 2 BMPR1B 1549 100% Brachydactyly Type A2 BMPR2 3169 100% Heritable Pulmonary Arterial Hypertension BMPR2 3169 100% Choriodal Dystrophy, Central Areolar 2 BMS1 3937 100% . BMX 2100 100% . BNC1 3005 97% . BNC2 3328 100% . BNIP1 844 100% . BNIP2 1348 79% . BNIP3 609 92% . BNIP3L 684 100% . BNIPL 1349 100% . BOC 3417 97% . BOD1 602 82% . BOD1L 9260 98% . BOK 655 62% . BOLA1 418 100% . BOLA2 942 0% . BOLA2B 942 0% . BOLA3 552 89% Multiple Mitochondrial Dysfunctions Syndrome 2 BOLL 1080 100% . BOP1 2305 11% . BORA 1724 100% . BPGM 788 100% . BPHL 904 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 55

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BPI 1524 100% . BPIFA1 799 100% . BPIFA2 778 100% . BPIFA3 793 100% . BPIFB1 1515 100% . BPIFB2 1437 97% . BPIFB3 1491 97% . BPIFB4 1909 99% . BPIFB6 1422 100% . BPIFC 1584 100% . BPNT1 959 100% . BPTF 10182 96% . BPY2 1011 5% . BPY2B 1011 5% . BPY2C 1011 5% . BRAF 2373 94% Cardiofaciocutaneous Syndrome BRAF 2373 94% Noonan Syndrome BRAF 2373 94% BRAF-Related Cardiofaciocutaneous Syndrome BRAF 2373 94% LEOPARD Syndrome BRAF 2373 94% BRAF-Related LEOPARD Syndrome BRAF 2373 94% BRAF-Related Noonan Syndrome BRAP 1827 100% . BRAT1 2518 92% . BRCA1 9522 100% BRCA1 Hereditary Breast and Ovarian Cancer BRCA1 9522 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer BRCA1 9522 100% Choriodal Dystrophy, Central Areolar 2 BRCA2 10361 100% Prostate Cancer BRCA2 10361 100% BRCA2 Hereditary Breast and Ovarian Cancer BRCA2 10361 100% BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer BRCA2 10361 100% BRCA2-Related Fanconi Anemia BRCA2 10361 100% Fanconi Anemia BRCA2 10361 100% Pancreatic Cancer Susceptibility 2 BRCA2 10361 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 56

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BRCC3 1054 100% . BRD1 3225 100% . BRD2 2871 96% . BRD3 2225 94% . BRD4 4180 80% . BRD7 2146 100% . BRD8 4103 100% . BRD9 2226 98% . BRDT 3177 100% . BRE 1407 100% . BRF1 2658 93% . BRF2 1276 100% . BRI3 446 55% . BRI3BP 768 95% . BRIP1 3826 100% Fanconi Anemia BRIP1 3826 100% BRIP1-Related Fanconi Anemia BRIP1 3826 100% BRIP1-Related Breast Cancer BRIX1 1102 95% . BRK1 240 100% . BRMS1 921 100% . BRMS1L 1012 96% . BROX 1284 100% . BRP44 404 76% . BRP44L 345 100% . BRPF1 3866 99% . BRPF3 3666 96% . BRS3 1212 100% . BRSK1 2413 85% . BRSK2 2087 87% . BRWD1 8714 99% . BRWD3 5573 99% X-Linked Mental Retardation 93 BSCL2 1839 100% Berardinelli-Seip Congenital Lipodystrophy BSCL2 1839 100% Berardinelli-Seip Congenital Lipodystrophy Type 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 57

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BSCL2 1839 100% BSCL2-Related Neurologic Disorders/Seipinopathy BSDC1 1611 99% . BSG 1226 82% . BSN 11821 98% . BSND 979 100% Bartter Syndrome Type 4A BSPH1 419 100% . BSPRY 1233 80% . BST1 993 85% . BST2 559 99% . BSX 714 79% . BTAF1 5702 100% . BTBD1 1632 93% . BTBD10 1460 100% . BTBD11 3488 79% . BTBD16 1581 100% . BTBD17 1449 63% . BTBD18 2147 0% . BTBD19 908 74% . BTBD2 1614 81% . BTBD3 1915 100% . BTBD6 1474 86% . BTBD7 3514 100% . BTBD8 1173 99% . BTBD9 2730 97% . BTC 557 88% . BTD 1648 100% Biotinidase Deficiency BTD 1648 100% Choriodal Dystrophy, Central Areolar 2 BTF3 645 81% . BTF3L4 754 100% . BTG1 524 100% . BTG2 485 84% . BTG3 911 99% . BTG4 692 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 58

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) BTK 2052 100% X-Linked Agammaglobulinemia BTK 2052 100% Choriodal Dystrophy, Central Areolar 2 BTLA 890 100% . BTN1A1 1609 100% . BTN2A1 2006 99% . BTN2A2 1714 98% . BTN3A1 2032 92% . BTN3A2 1405 100% . BTN3A3 2143 100% . BTNL2 1392 100% . BTNL3 1433 86% . BTNL8 2864 87% . BTNL9 1648 86% . BTRC 1874 97% . BUB1 3358 100% . BUB1B 3245 100% . BUB3 1029 100% . BUD13 2618 100% . BUD31 451 100% . BVES 1111 100% . BYSL 1342 100% . BZRAP1 5698 91% . BZW1 1270 100% . BZW2 1304 98% . C10orf10 643 100% . C10orf105 406 6% . C10orf107 651 100% . C10orf11 621 100% . C10orf111 472 100% . C10orf113 851 100% . C10orf114 419 88% . C10orf116 243 74% . C10orf118 2757 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 59

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C10orf12 3748 100% . C10orf120 1020 100% . C10orf122 577 100% . C10orf125 500 57% . C10orf128 342 100% . C10orf129 1483 100% . C10orf131 555 97% . C10orf137 3711 100% . C10orf140 2731 77% . C10orf2 2496 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 3 C10orf2 2496 100% Infantile-Onset Spinocerebellar Ataxia C10orf2 2496 100% C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form C10orf2 2496 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form C10orf2 2496 100% C10orf2-Related Ataxia Neuropathy Spectrum Disorders C10orf25 377 100% . C10orf26 1139 92% . C10orf27 1092 96% . C10orf28 2361 100% . C10orf32 341 92% . C10orf35 374 100% . C10orf46 1146 99% . C10orf47 1320 59% . C10orf53 555 82% . C10orf54 964 100% . C10orf55 542 99% . C10orf58 1074 100% . C10orf62 676 100% . C10orf67 578 100% . C10orf68 1967 100% . C10orf71 8714 98% . C10orf76 2170 100% . C10orf81 2241 100% . C10orf82 481 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 60

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C10orf88 1362 92% . C10orf90 2136 100% . C10orf91 450 94% . C10orf95 782 33% . C10orf96 809 100% . C10orf99 258 100% . C11orf1 469 99% . C11orf10 252 100% . C11orf16 1424 98% . C11orf2 2389 82% . C11orf20 623 63% . C11orf21 553 65% . C11orf24 1358 100% . C11orf30 4049 100% . C11orf31 381 69% . C11orf34 640 72% . C11orf35 1961 68% . C11orf40 670 96% . C11orf41 5630 100% . C11orf42 1014 100% . C11orf45 450 100% . C11orf46 795 100% . C11orf48 816 96% . C11orf49 1487 100% . C11orf51 382 100% . C11orf52 388 100% . C11orf53 723 100% . C11orf54 826 100% . C11orf57 1414 100% . C11orf58 572 100% . C11orf61 1540 92% . C11orf63 2433 100% . C11orf65 974 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 61

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C11orf67 381 100% . C11orf68 1654 92% . C11orf70 1009 89% . C11orf71 452 100% . C11orf73 614 94% . C11orf74 686 100% . C11orf75 184 100% . C11orf80 2102 91% . C11orf82 3013 100% . C11orf83 290 85% . C11orf84 1170 94% . C11orf85 683 100% . C11orf86 356 2% . C11orf87 598 100% . C11orf88 619 86% . C11orf9 3790 84% . C11orf91 590 67% . C11orf93 473 100% . C11orf94 309 75% . C11orf95 2057 2% . C11orf96 373 42% . C12orf10 1159 100% . C12orf12 1225 96% . C12orf23 359 100% . C12orf24 850 83% . C12orf26 1860 100% . C12orf29 1006 100% . C12orf34 1367 89% . C12orf35 5256 100% . C12orf39 375 82% . C12orf4 1711 100% . C12orf40 2011 100% . C12orf42 1103 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 62

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C12orf43 813 88% . C12orf44 665 100% . C12orf45 574 100% . C12orf49 638 99% . C12orf5 837 100% . C12orf50 1293 100% . C12orf51 13037 93% . C12orf52 818 99% . C12orf53 1095 90% . C12orf54 412 100% . C12orf56 1921 75% . C12orf57 393 100% . C12orf59 508 100% . C12orf60 742 100% . C12orf61 400 51% . C12orf62 178 100% . C12orf65 509 100% Combined Oxidative Phosphorylation Deficiency 7 C12orf66 1350 100% . C12orf68 589 73% . C12orf69 682 100% . C12orf70 1064 83% . C12orf71 818 100% . C12orf73 224 100% . C12orf74 1122 100% . C12orf75 212 0% . C12orf76 424 58% . C12orf77 454 98% . C13orf15 434 79% . C13orf16 476 100% . C13orf26 898 100% . C13orf27 704 100% . C13orf30 432 100% . C13orf33 932 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 63

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C13orf35 374 100% . C14orf1 439 100% . C14orf101 2188 93% . C14orf102 3551 100% . C14orf105 915 100% . C14orf109 934 100% . C14orf118 1529 100% . C14orf119 427 100% . C14orf126 519 85% . C14orf129 428 100% . C14orf133 1558 100% . C14orf135 2853 100% . C14orf142 311 100% . C14orf149 1085 98% . C14orf159 2272 100% . C14orf166 767 100% . C14orf166B 1523 100% . C14orf169 1929 78% . C14orf176 678 0% . C14orf177 386 100% . C14orf178 677 78% . C14orf180 499 35% . C14orf182 336 100% . C14orf183 995 92% . C14orf2 244 77% . C14orf21 1951 100% . C14orf28 949 100% . C14orf37 2353 100% . C14orf38 2462 91% . C14orf39 1832 100% . C14orf43 3182 98% . C14orf45 1638 100% . C14orf49 2996 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 64

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C14orf79 998 100% . C14orf80 1381 50% . C14orf93 1641 100% . C15orf17 617 80% . C15orf2 3475 100% . C15orf23 1109 100% . C15orf24 749 100% . C15orf26 934 93% . C15orf27 1636 96% . C15orf29 951 100% . C15orf32 549 100% . C15orf33 1587 100% . C15orf38 705 87% . C15orf38-AP3S2 1225 92% . C15orf39 3152 97% . C15orf40 1306 81% . C15orf41 967 96% . C15orf42 5821 98% . C15orf43 691 100% . C15orf44 1862 100% . C15orf48 268 100% . C15orf52 1649 95% . C15orf53 548 100% . C15orf54 556 100% . C15orf55 3427 100% . C15orf56 494 50% . C15orf57 861 100% . C15orf58 1162 100% . C15orf59 890 100% . C15orf60 825 97% . C15orf61 482 87% . C15orf62 532 93% . C15orf63 506 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 65

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C16orf11 1724 78% . C16orf13 833 53% . C16orf3 358 66% . C16orf42 963 78% . C16orf45 698 91% . C16orf46 2206 100% . C16orf48 1069 89% . C16orf5 1081 75% . C16orf52 516 42% . C16orf53 777 67% . C16orf54 679 45% . C16orf55 432 91% . C16orf57 826 93% . C16orf58 1459 89% . C16orf59 1342 82% . C16orf61 252 100% . C16orf62 3283 96% . C16orf7 1956 70% . C16orf70 1333 95% . C16orf71 1595 98% . C16orf72 844 77% . C16orf73 1468 100% . C16orf74 243 64% . C16orf78 818 98% . C16orf79 711 89% . C16orf80 606 100% . C16orf82 469 87% . C16orf86 970 90% . C16orf87 481 100% . C16orf88 1393 100% . C16orf89 1376 82% . C16orf90 561 100% . C16orf91 1091 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 66

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C16orf92 740 98% . C16orf93 1336 80% . C16orf95 939 72% . C16orf96 3490 21% . C17orf100 360 86% . C17orf101 1173 90% . C17orf102 512 100% . C17orf103 353 69% . C17orf104 2891 97% . C17orf105 515 0% . C17orf107 585 45% . C17orf108 249 100% . C17orf109 242 46% . C17orf110 193 0% . C17orf28 2443 82% . C17orf39 927 73% . C17orf46 1175 100% . C17orf47 1721 100% . C17orf48 1041 100% . C17orf49 672 93% . C17orf50 537 30% . C17orf51 674 100% . C17orf53 2100 100% . C17orf56 1626 67% . C17orf57 3168 100% . C17orf58 659 100% . C17orf59 1078 88% . C17orf61 358 92% . C17orf62 588 83% . C17orf63 1697 98% . C17orf64 735 93% . C17orf65 586 49% . C17orf66 1773 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 67

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C17orf67 357 100% . C17orf70 2682 83% . C17orf72 1441 2% . C17orf74 1518 100% . C17orf75 1231 100% . C17orf77 736 100% . C17orf78 856 100% . C17orf79 571 82% . C17orf80 1873 100% . C17orf81 1293 100% . C17orf82 760 84% . C17orf85 1915 97% . C17orf89 237 14% . C17orf90 452 89% . C17orf96 1144 15% . C17orf97 1280 76% . C17orf98 477 100% . C17orf99 818 88% . C18orf1 1188 96% . C18orf21 1063 100% . C18orf25 1228 100% . C18orf26 645 100% . C18orf32 262 100% . C18orf34 2688 100% . C18orf42 218 0% . C18orf54 1147 100% . C18orf56 509 35% . C18orf62 318 100% . C18orf63 2106 100% . C18orf8 2054 100% . C19orf10 546 88% . C19orf12 1185 98% Mitochondrial Membrane Protein-Associated Neurodegeneration C19orf18 672 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 68

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C19orf21 2056 98% . C19orf24 411 30% . C19orf25 365 83% . C19orf26 1376 81% . C19orf29 2317 92% . C19orf33 337 93% . C19orf35 1434 48% . C19orf38 721 89% . C19orf40 664 100% . C19orf42 248 100% . C19orf43 543 38% . C19orf44 2002 99% . C19orf45 1550 89% . C19orf46 1247 86% . C19orf47 1117 95% . C19orf48 358 100% . C19orf51 1815 74% . C19orf52 791 51% . C19orf53 312 100% . C19orf54 1080 85% . C19orf55 1755 99% . C19orf57 1942 97% . C19orf59 592 100% . C19orf6 2457 46% . C19orf60 901 45% . C19orf63 908 73% . C19orf66 908 90% . C19orf69 401 98% . C19orf70 373 73% . C19orf71 646 34% . C19orf73 394 100% . C19orf75 614 100% . C19orf76 470 23% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 69

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C19orf77 409 77% . C19orf79 238 44% . C19orf80 613 75% . C19orf81 617 45% . C1D 442 100% . C1GALT1 1104 100% . C1GALT1C1 961 100% . C1orf100 460 100% . C1orf101 3113 98% . C1orf105 580 100% . C1orf106 2185 79% . C1orf109 628 100% . C1orf110 921 100% . C1orf111 798 100% . C1orf112 2650 100% . C1orf114 1547 100% . C1orf115 437 46% . C1orf116 3345 100% . C1orf122 551 28% . C1orf123 515 100% . C1orf124 1832 100% . C1orf127 2520 80% . C1orf129 3047 71% . C1orf130 321 100% . C1orf131 910 100% . C1orf135 1086 93% . C1orf141 1227 100% . C1orf144 530 79% . C1orf146 563 100% . C1orf150 428 100% . C1orf151-NBL1 770 84% . C1orf158 601 100% . C1orf159 629 67% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 70

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C1orf162 488 100% . C1orf168 2267 100% . C1orf172 1209 100% . C1orf173 4649 99% . C1orf174 748 100% . C1orf177 1362 94% . C1orf182 390 100% . C1orf185 620 100% . C1orf186 539 100% . C1orf187 1074 99% . C1orf189 322 100% . C1orf190 728 100% . C1orf192 554 100% . C1orf194 494 100% . C1orf198 1884 94% . C1orf201 1217 100% . C1orf204 732 66% . C1orf21 386 100% . C1orf210 350 100% . C1orf212 283 46% . C1orf216 694 100% . C1orf226 1292 91% . C1orf227 305 100% . C1orf228 1367 82% . C1orf229 718 1% . C1orf27 1417 100% . C1orf31 554 100% . C1orf35 824 75% . C1orf38 2117 95% . C1orf43 790 100% . C1orf49 928 95% . C1orf50 620 83% . C1orf51 1178 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 71

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C1orf52 561 98% . C1orf53 450 88% . C1orf54 416 100% . C1orf55 1384 100% . C1orf56 1034 100% . C1orf61 491 88% . C1orf63 889 100% . C1orf64 518 97% . C1orf65 1876 92% . C1orf68 757 100% . C1orf74 814 100% . C1orf85 1245 96% . C1orf86 992 93% . C1orf87 1685 100% . C1orf88 600 100% . C1orf9 3861 99% . C1orf94 2518 83% . C1orf95 442 87% . C1orf96 825 87% . C1QA 746 93% . C1QB 770 100% . C1QBP 873 73% . C1QC 746 87% . C1QL1 785 96% . C1QL2 872 71% . C1QL3 776 92% . C1QL4 725 76% . C1QTNF1 1002 100% . C1QTNF2 1005 94% . C1QTNF3 1291 100% . C1QTNF4 994 68% . C1QTNF5 740 65% Late-Onset Retinal Degeneration C1QTNF6 849 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 72

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C1QTNF7 1153 99% . C1QTNF8 767 93% . C1QTNF9 1014 98% . C1QTNF9B 1014 100% . C1QTNF9B-AS1 2331 100% . C1R 1922 96% . C1RL 1488 95% . C1S 2111 100% . C2 3715 99% Age-Related Macular Degeneration C2 3715 99% Complement Component C2 Deficiency C20orf11 703 100% . C20orf111 891 100% . C20orf112 1339 96% . C20orf118 672 100% . C20orf123 1713 48% . C20orf132 3386 92% . C20orf141 506 100% . C20orf144 470 44% . C20orf151 2047 58% . C20orf152 2063 99% . C20orf160 1334 61% . C20orf166 366 96% . C20orf173 625 100% . C20orf177 2312 100% . C20orf194 3682 96% . C20orf195 961 100% . C20orf196 626 100% . C20orf197 389 100% . C20orf20 635 76% . C20orf201 731 26% . C20orf202 377 100% . C20orf203 593 93% . C20orf24 1204 90% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 73

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C20orf26 3850 100% . C20orf27 620 100% . C20orf29 611 100% . C20orf3 1287 93% . C20orf30 690 74% . C20orf4 1167 100% . C20orf43 957 92% . C20orf54 1426 93% . C20orf7 1174 100% . C20orf72 1051 100% . C20orf79 475 100% . C20orf85 430 97% . C20orf94 1255 100% . C20orf96 1160 95% . C21orf2 799 79% . C21orf33 835 89% Anophthalmia/Microphthalmia C21orf56 1394 86% . C21orf58 1001 66% . C21orf59 901 94% . C21orf62 664 100% . C21orf63 1358 95% . C21orf7 757 76% . C21orf91 1252 100% . C22orf13 747 92% . C22orf15 471 96% . C22orf23 678 100% . C22orf24 491 98% . C22orf25 863 87% . C22orf26 425 21% . C22orf28 1566 100% . C22orf29 1099 99% . C22orf31 885 100% . C22orf32 332 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 74

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C22orf33 1334 100% . C22orf39 496 76% . C22orf40 384 100% . C22orf42 792 90% . C22orf43 738 99% . C22orf46 740 8% . C2CD2 2265 89% . C2CD2L 2180 94% . C2CD3 6016 100% . C2CD4A 1114 39% . C2CD4B 1099 25% . C2CD4C 1270 20% . C2CD4D 1066 0% . C2orf15 386 100% . C2orf16 5959 100% . C2orf18 1140 93% . C2orf27A 620 5% . C2orf27B 638 8% . C2orf28 1277 61% . C2orf29 1561 93% . C2orf40 463 82% . C2orf42 1757 100% . C2orf43 1002 100% . C2orf44 2412 100% . C2orf47 896 100% . C2orf48 492 88% . C2orf49 715 96% . C2orf50 501 100% . C2orf51 555 100% . C2orf53 1243 100% . C2orf54 1378 97% . C2orf55 2925 67% . C2orf56 1584 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 75

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C2orf57 1192 100% . C2orf61 864 100% . C2orf62 1204 99% . C2orf63 1943 100% . C2orf65 1633 99% . C2orf66 362 100% . C2orf67 3020 100% . C2orf68 517 100% . C2orf69 1166 73% . C2orf70 622 89% . C2orf71 3875 99% Retinitis Pigmentosa, Autosomal Recessive C2orf71 3875 99% Retinitis Pigmentosa C2orf71 3875 99% C2orf71-Related Retinitis Pigmentosa C2orf72 900 27% . C2orf73 884 100% . C2orf74 786 85% . C2orf76 401 100% . C2orf77 1695 100% . C2orf78 2781 100% . C2orf80 614 100% . C2orf81 1783 67% . C2orf82 378 6% . C2orf83 831 91% . C2orf84 641 100% . C2orf88 292 100% . C2orf89 1395 99% . C3 5156 99% Age-Related Macular Degeneration C3 5156 99% Atypical Hemolytic-Uremic Syndrome C3 5156 99% C3 Deficiency, Autosomal Recessive C3 5156 99% Age-Related Macular Degeneration 9 C3 5156 99% C3-Related Atypical Hemolytic-Uremic Syndrome C3AR1 1453 100% . C3orf14 403 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 76

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C3orf15 2372 99% . C3orf17 1740 100% . C3orf18 743 94% . C3orf19 1448 100% . C3orf20 3263 100% . C3orf22 438 100% . C3orf23 1583 100% . C3orf24 538 100% . C3orf25 1755 100% . C3orf26 894 98% . C3orf27 454 100% . C3orf30 1623 100% . C3orf32 1098 90% . C3orf33 772 100% . C3orf35 1019 100% . C3orf36 502 100% . C3orf37 1089 100% . C3orf38 1002 100% . C3orf39 1747 100% . C3orf43 657 100% . C3orf45 511 100% . C3orf52 1391 71% . C3orf55 818 50% . C3orf58 1339 92% . C3orf62 816 100% . C3orf64 1380 100% . C3orf67 1740 100% . C3orf70 761 100% . C3orf71 877 82% . C3orf72 540 82% . C3orf75 829 100% . C3orf77 5159 99% . C3orf78 221 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 77

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C3orf79 315 100% . C3orf80 748 70% . C4A 11180 20% . C4B 10798 20% . C4BPA 1838 100% . C4BPB 961 100% . C4orf17 1112 100% . C4orf19 953 100% . C4orf21 6423 100% . C4orf22 726 100% . C4orf26 731 100% . C4orf27 1073 98% . C4orf29 1285 100% . C4orf3 1014 100% . C4orf32 407 62% . C4orf33 620 100% . C4orf34 316 100% . C4orf36 366 100% . C4orf37 1424 100% . C4orf39 478 84% . C4orf40 676 100% . C4orf43 640 100% . C4orf44 849 55% . C4orf45 581 100% . C4orf46 350 99% . C4orf47 958 51% . C4orf48 565 13% . C4orf49 739 100% . C4orf51 633 100% . C4orf52 216 100% . C4orf6 290 100% . C5 5195 100% . C5AR1 1060 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 78

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C5orf15 810 100% . C5orf20 739 100% . C5orf22 1365 100% . C5orf24 571 100% . C5orf25 1410 91% . C5orf28 656 100% . C5orf30 625 100% . C5orf32 302 100% . C5orf34 1965 100% . C5orf35 932 99% . C5orf38 433 87% . C5orf39 586 100% . C5orf4 1034 100% . C5orf41 3107 100% . C5orf42 9798 100% Joubert Syndrome and Related Disorders C5orf42 9798 100% C5orf42-Related Joubert Syndrome C5orf43 229 100% . C5orf44 1464 98% . C5orf45 1060 92% . C5orf46 276 99% . C5orf47 547 42% . C5orf48 417 100% . C5orf49 456 77% . C5orf51 909 100% . C5orf52 492 100% . C5orf54 1789 100% . C5orf55 364 100% . C5orf58 321 100% . C5orf60 854 55% . C5orf62 187 100% . C5orf63 610 59% . C5orf64 405 90% . C5orf65 3052 0% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 79

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C6 2873 100% . C6orf1 492 96% . C6orf10 1488 100% . C6orf103 5148 94% . C6orf105 775 93% . C6orf106 917 100% . C6orf108 798 82% . C6orf115 254 100% . C6orf118 1446 100% . C6orf120 580 96% . C6orf125 397 100% . C6orf126 315 72% . C6orf127 378 86% . C6orf130 479 100% . C6orf132 3587 12% . C6orf136 2134 59% . C6orf138 2586 99% . C6orf141 739 38% . C6orf146 1551 100% . C6orf15 986 93% . C6orf162 302 100% . C6orf163 1010 100% . C6orf165 1917 100% . C6orf168 1254 100% . C6orf170 3902 100% . C6orf174 2868 89% . C6orf186 1121 73% . C6orf191 407 100% . C6orf192 1427 97% . C6orf195 388 100% . C6orf201 439 100% . C6orf203 1240 99% . C6orf211 1346 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 80

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C6orf221 666 100% . C6orf222 2003 100% . C6orf223 1041 79% . C6orf225 251 100% . C6orf226 310 100% . C6orf228 284 0% . C6orf25 1171 99% . C6orf47 889 100% . C6orf48 236 100% . C6orf52 475 100% . C6orf57 339 88% . C6orf58 1017 100% . C6orf62 710 100% . C6orf70 2109 100% . C6orf72 1025 89% . C6orf89 1097 99% . C6orf94 697 95% . C6orf97 2192 97% . C6orf99 386 100% . C7 2604 100% . C7orf10 1656 99% . C7orf11 548 45% . C7orf23 373 100% . C7orf25 2739 94% . C7orf26 1374 96% . C7orf29 715 100% . C7orf30 721 96% . C7orf31 1809 100% . C7orf33 546 100% . C7orf34 452 100% . C7orf41 408 100% . C7orf42 969 100% . C7orf43 1787 73% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 81

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C7orf44 461 100% . C7orf45 747 100% . C7orf46 925 93% . C7orf49 787 100% . C7orf50 601 95% . C7orf53 408 100% . C7orf55 350 100% . C7orf57 920 100% . C7orf58 3215 100% . C7orf59 316 96% . C7orf60 1238 100% . C7orf61 633 100% . C7orf62 766 100% . C7orf63 3021 100% . C7orf65 468 100% . C7orf66 356 100% . C7orf69 381 71% . C7orf70 784 100% . C7orf71 522 90% . C7orf72 1353 100% . C7orf73 156 0% . C8A 1799 100% . C8B 1824 100% . C8G 637 84% . C8orf22 262 100% . C8orf31 415 100% . C8orf33 710 100% . C8orf34 1878 96% . C8orf37 648 100% Retinitis Pigmentosa C8orf37 648 100% Cone-Rod Dystrophy 16 C8orf37 648 100% C8orf37-Related Retinitis Pigmentosa C8orf38 1038 81% . C8orf4 325 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 82

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C8orf40 336 100% . C8orf42 920 93% . C8orf44 488 100% . C8orf44-SGK3 1555 100% . C8orf45 2411 100% . C8orf46 648 77% . C8orf47 1137 95% . C8orf48 964 100% . C8orf55 635 21% . C8orf58 1353 93% . C8orf59 309 100% . C8orf73 2216 61% . C8orf74 901 99% . C8orf76 1167 100% . C8orf80 2463 99% . C8orf82 663 26% . C8orf83 273 100% . C8orf84 815 99% . C8orf85 476 84% . C8orf86 684 100% . C9 1724 100% . C9orf100 1044 87% . C9orf102 2195 99% . C9orf103 632 91% . C9orf106 703 98% . C9orf11 917 100% . C9orf114 1179 94% . C9orf116 616 93% . C9orf117 1599 90% . C9orf123 347 100% . C9orf125 1216 100% . C9orf128 1233 99% . C9orf129 607 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 83

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C9orf131 3734 100% . C9orf135 714 100% . C9orf139 581 100% . C9orf140 1209 41% . C9orf142 643 71% . C9orf150 695 96% . C9orf152 728 100% . C9orf153 318 100% . C9orf156 1346 96% . C9orf16 260 67% . C9orf163 616 89% . C9orf167 1276 50% . C9orf169 439 100% . C9orf170 374 100% . C9orf171 991 97% . C9orf172 2935 56% . C9orf173 951 96% . C9orf174 5254 98% . C9orf21 705 65% . C9orf23 496 100% . C9orf24 1471 97% . C9orf25 913 97% . C9orf3 2564 98% . C9orf30 902 100% . C9orf30-TMEFF1 1405 100% . C9orf37 535 82% . C9orf4 1055 64% . C9orf40 593 67% . C9orf41 1262 95% . C9orf43 1438 100% . C9orf46 460 100% . C9orf47 871 71% . C9orf5 2712 85% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 84

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) C9orf50 1324 67% . C9orf57 506 100% . C9orf64 1042 100% . C9orf66 892 82% . C9orf68 1041 100% . C9orf69 412 86% . C9orf7 634 60% . C9orf71 521 100% . C9orf72 1563 100% Amyotrophic Lateral Sclerosis C9orf72 1563 100% C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia C9orf78 906 100% . C9orf79 4354 100% . C9orf80 331 100% . C9orf82 1315 98% . C9orf84 4572 100% . C9orf85 490 100% . C9orf86 2610 86% . C9orf89 576 85% . C9orf9 523 100% . C9orf91 1061 100% . C9orf93 4081 100% . C9orf95 632 100% . C9orf96 2115 97% . CA1 814 100% . CA10 1023 100% . CA11 1023 95% . CA12 1109 100% . CA13 817 100% . CA14 1058 100% . CA2 811 95% Osteopetrosis with Renal Tubular Acidosis CA3 811 95% . CA4 971 100% Retinitis Pigmentosa, Autosomal Dominant CA4 971 100% Retinitis Pigmentosa UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 85

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CA4 971 100% CA4-Related Retinitis Pigmentosa CA5A 946 100% . CA5B 982 100% . CA6 959 100% . CA7 1025 96% . CA8 905 100% . CA9 1424 100% . CAB39 1058 100% . CAB39L 1046 100% . CABIN1 6807 96% . CABLES1 2093 73% . CABLES2 1477 75% . CABP1 1370 52% . CABP2 691 68% . CABP4 852 87% CABP4-Related Autosomal Recessive Congenital Stationary Night Blindness CABP4 852 87% Congenital Stationary Night Blindness, Type 2B CABP5 546 100% . CABP7 668 94% . CABS1 1192 100% . CABYR 5277 100% . CACHD1 3780 100% . CACNA1A 8868 80% Familial Hemiplegic Migraine CACNA1A 8868 80% Spinocerebellar Ataxia Type 6 CACNA1A 8868 80% CACNA1A-Related Episodic Ataxia Type 2 CACNA1A 8868 80% Familial Hemiplegic Migraine 1 CACNA1A 8868 80% Episodic Ataxia Type 2 CACNA1A 8868 80% Choriodal Dystrophy, Central Areolar 2 CACNA1B 7739 89% . CACNA1C 7965 100% Brugada Syndrome CACNA1C 7965 100% Timothy Syndrome CACNA1C 7965 100% Brugada Syndrome 3 CACNA1D 6850 99% . CACNA1E 7001 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 86

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CACNA1F 6126 84% Congenital Stationary Night Blindness, X-Linked CACNA1F 6126 84% CACNA1F-Related X-Linked Congenital Stationary Night Blindness CACNA1F 6126 84% X-linked Cone-Rod Dystrophy 3 CACNA1G 10790 97% . CACNA1H 7198 87% Epilepsy, Childhood Absence, Susceptibility to, 6 CACNA1I 6820 82% . CACNA1S 5798 98% Hypokalemic Periodic Paralysis CACNA1S 5798 98% Malignant Hyperthermia Susceptibility CACNA1S 5798 98% Hypokalemic Periodic Paralysis Type 1 CACNA1S 5798 98% CACNA1S-Related Malignant Hyperthermia Susceptibility CACNA1S 5798 98% Choriodal Dystrophy, Central Areolar 2 CACNA2D1 3432 100% . CACNA2D2 3708 89% . CACNA2D3 3428 96% . CACNA2D4 3566 96% Retinal Cone Dystrophy 4 CACNB1 2412 91% . CACNB2 2349 94% Brugada Syndrome CACNB2 2349 94% Brugada Syndrome 4 CACNB3 1507 100% . CACNB4 1681 96% Juvenile Myoclonic Epilepsy CACNB4 1681 96% CACNB4-Related Episodic Ataxia Type 2 CACNB4 1681 96% CACNB4-Related Juvenile Myoclonic Epilepsy CACNB4 1681 96% Episodic Ataxia Type 5 CACNB4 1681 96% Choriodal Dystrophy, Central Areolar 2 CACNG1 685 100% . CACNG2 988 99% . CACNG3 964 100% . CACNG4 1000 99% . CACNG5 1894 100% . CACNG6 799 76% . CACNG7 848 100% . CACNG8 1294 59% . CACYBP 935 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 87

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CAD 6854 99% . CADM1 1369 91% . CADM2 1490 100% . CADM3 1339 93% . CADM4 1203 94% . CADPS 4396 95% . CADPS2 4470 95% . CAGE1 3086 97% . CALB1 830 100% . CALB2 936 100% . CALCA 602 100% . CALCB 396 100% . CALCOCO1 2327 100% . CALCOCO2 1389 100% . CALCR 1664 98% . CALCRL 1434 100% . CALD1 3671 99% . CALHM1 1049 100% . CALHM2 980 100% . CALHM3 1047 86% . CALM1 474 99% . CALM2 474 100% . CALM3 474 99% . CALML3 454 100% . CALML4 611 100% . CALML5 445 97% . CALML6 570 90% . CALN1 939 100% . CALR 1290 100% . CALR3 1191 100% . CALU 1714 99% . CALY 670 50% . CAMK1 1402 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 88

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CAMK1D 1394 100% . CAMK1G 1475 100% . CAMK2A 1546 98% . CAMK2B 2240 84% . CAMK2D 1904 97% . CAMK2G 1928 88% . CAMK2N1 245 67% . CAMK2N2 248 87% . CAMK4 1466 100% . CAMKK1 1812 96% . CAMKK2 2016 96% . CAMKMT 1016 87% . CAMKV 1546 100% . CAMLG 907 100% . CAMP 529 100% . CAMSAP1 4877 97% . CAMSAP2 4505 100% . CAMSAP3 3907 71% . CAMTA1 5127 99% . CAMTA2 4157 99% . CAND1 3753 100% . CAND2 3945 92% . CANT1 1218 99% Desbuquois Dysplasia CANX 1835 100% . CAP1 1476 100% . CAP2 1482 100% . CAPG 1237 98% . CAPN1 2229 97% . CAPN10 2067 90% . CAPN11 2312 100% . CAPN12 2244 80% . CAPN13 2094 99% . CAPN14 2139 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 89

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CAPN2 2194 94% . CAPN3 2624 97% Limb-Girdle Muscular Dystrophies, Autosomal Recessive CAPN3 2624 97% Calpainopathy CAPN5 1971 99% . CAPN6 1974 100% . CAPN7 2526 96% . CAPN8 1854 98% . CAPN9 2153 100% . CAPNS1 847 79% . CAPNS2 751 100% . CAPRIN1 2310 100% . CAPRIN2 4409 100% . CAPS 797 100% . CAPS2 1746 100% . CAPSL 643 100% . CAPZA1 901 100% . CAPZA2 901 95% . CAPZA3 904 100% . CAPZB 855 99% . CARD10 3179 86% . CARD11 3561 97% . CARD14 3794 83% . CARD16 630 100% . CARD17 345 100% . CARD18 281 100% . CARD6 3126 100% . CARD8 1869 100% . CARD9 1712 83% . CARHSP1 456 97% . CARKD 1497 93% . CARM1 1891 84% . CARNS1 3381 53% . CARS 2831 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 90

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CARS2 1755 90% . CARTPT 363 100% . CASC1 2790 100% . CASC3 2164 95% . CASC4 1351 100% . CASC5 7133 98% . CASD1 2466 94% . CASK 2974 100% FG Syndrome 4 CASK 2974 100% Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia CASKIN1 4376 58% . CASKIN2 3835 93% . CASP1 1522 100% . CASP10 1873 100% CASP10-Related Autoimmune Lymphoproliferative Syndrome CASP10 1873 100% Autoimmune Lymphoproliferative Syndrome CASP12 1054 100% . CASP14 753 100% . CASP2 1983 100% . CASP3 858 100% . CASP4 1425 100% . CASP5 1597 100% . CASP6 910 98% . CASP7 1531 95% . CASP8 2234 100% Caspase 8 Deficiency CASP8AP2 5937 100% . CASP9 1577 91% . CASQ1 1235 100% . CASQ2 1244 100% Catecholaminergic Polymorphic Ventricular Tachycardia CASQ2 1244 100% CASQ2-Related Catecholaminergic Polymorphic Ventricular Tachycardia CASQ2 1244 100% Choriodal Dystrophy, Central Areolar 2 CASR 3449 100% Familial Hypocalciuric Hypercalcemia, Type I CASR 3449 100% Neonatal Severe Primary Hyperparathyroidism CASR 3449 100% Autosomal Dominant Hypocalcemia CASR 3449 100% CASR-Associated Familial Isolated Hypoparathyroidism UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 91

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CASR 3449 100% CASR-Related Disorders CASR 3449 100% CASR-Related Familial Isolated Hypoparathyroidism CASR 3449 100% Familial Isolated Hypoparathyroidism CASR 3449 100% Epilepsy, Idiopathic Generalized, Susceptibility to, 8 CASR 3449 100% Choriodal Dystrophy, Central Areolar 2 CASR 3449 100% Hypocalciuric Hypercalcemia, Type I CASS4 2812 100% . CAST 2564 97% . CASZ1 5703 90% . CAT 1636 98% . CATSPER1 2391 100% CATSPER-Related Nonsyndromic Male Infertility CATSPER1 2391 100% CATSPER-Related Male Infertility CATSPER2 2118 88% Deafness-Infertility Syndrome CATSPER2 2118 88% CATSPER-Related Male Infertility CATSPER3 1229 100% . CATSPER4 1459 100% . CATSPERB 3455 100% . CATSPERG 3592 96% . CAV1 718 100% . CAV2 1078 97% . CAV3 464 100% Romano-Ward Syndrome CAV3 464 100% Limb-Girdle Muscular Dystrophies, Autosomal Dominant CAV3 464 100% Caveolinopathies CAV3 464 100% Long QT Syndrome 9 CAV3 464 100% CAV3-Related Sudden Infant Death Syndrome CAV3 464 100% Choriodal Dystrophy, Central Areolar 2 CBFA2T2 2045 98% . CBFA2T3 2167 69% . CBFB 823 99% . CBL 2785 93% Noonan-Like Syndrome Disorder with or without Juvenile Myelomonocytic Leukemia CBLB 3021 100% . CBLC 1465 91% . CBLL1 1500 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 92

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CBLN1 594 99% . CBLN2 687 91% . CBLN3 630 82% . CBLN4 618 98% . CBR1 846 95% . CBR3 846 98% . CBR4 734 100% . CBS 1716 88% Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency CBS 1716 88% Choriodal Dystrophy, Central Areolar 2 CBWD1 1298 97% . CBWD2 1248 95% . CBWD3 2496 47% . CBWD5 1096 32% . CBWD6 1248 54% . CBX1 574 100% . CBX2 2425 97% . CBX3 572 100% . CBX4 1703 90% . CBX5 592 100% . CBX6 1259 88% . CBX7 780 80% . CBX8 1190 97% . CBY1 397 100% . CBY3 737 54% . CC2D1A 2972 96% . CC2D1B 2669 99% . CC2D2A 5303 92% Meckel Syndrome CC2D2A 5303 92% Joubert Syndrome and Related Disorders CC2D2A 5303 92% CC2D2A-Related Joubert Syndrome CC2D2A 5303 92% CC2D2A-Related Meckel Syndrome CC2D2B 1246 100% . CCAR1 3549 100% . CCBE1 1265 89% Hennekam Lymphangiectasia-Lymphedema Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 93

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCBL1 1317 100% . CCBL2 1480 100% . CCBP2 1159 100% . CCDC101 918 100% . CCDC102A 1685 77% . CCDC102B 1570 100% . CCDC103 741 93% Primary Ciliary Dyskinesia CCDC103 741 93% Primary Ciliary Dyskinesia17: CCDC103-Related Primary Ciliary Dyskinesia CCDC104 1069 100% . CCDC105 1528 73% . CCDC106 863 96% . CCDC107 2656 92% . CCDC108 6603 95% . CCDC109B 1043 90% . CCDC11 1577 100% . CCDC110 2530 100% . CCDC111 1731 100% . CCDC112 1756 97% . CCDC113 1170 95% . CCDC114 2065 98% . CCDC115 563 100% . CCDC116 1858 96% . CCDC117 860 78% . CCDC12 568 99% . CCDC120 3038 62% . CCDC121 2290 94% . CCDC122 842 100% . CCDC124 688 55% . CCDC125 1580 100% . CCDC126 431 100% . CCDC127 791 100% . CCDC129 3187 98% . CCDC13 2208 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 94

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCDC130 1227 100% . CCDC132 3236 100% . CCDC134 714 100% . CCDC135 2693 100% . CCDC136 3881 94% . CCDC137 894 72% . CCDC138 2058 95% . CCDC14 2787 100% . CCDC140 496 100% . CCDC141 4689 100% . CCDC142 2268 96% . CCDC144A 4356 96% . CCDC144NL 682 98% . CCDC146 2940 100% . CCDC147 2691 100% . CCDC148 1971 97% . CCDC149 1705 92% . CCDC15 2916 100% . CCDC150 3418 100% . CCDC151 1840 97% . CCDC152 797 100% . CCDC153 657 59% . CCDC154 2072 50% . CCDC155 1765 94% . CCDC157 2299 83% . CCDC158 3434 100% . CCDC159 938 73% . CCDC160 982 100% . CCDC164 2291 100% . CCDC165 4817 100% . CCDC166 1328 0% . CCDC167 310 100% . CCDC168 21262 7% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 95

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCDC169 1022 100% . CCDC169-SOHLH2 1812 100% . CCDC17 2148 92% . CCDC18 4010 100% . CCDC19 1704 100% . CCDC22 1952 70% . CCDC23 209 100% . CCDC24 956 84% . CCDC25 663 95% . CCDC27 2019 92% . CCDC28A 849 100% . CCDC28B 623 100% . CCDC3 825 69% . CCDC30 2412 99% . CCDC33 2809 99% . CCDC34 1426 100% . CCDC36 1813 100% . CCDC37 1900 99% . CCDC38 1752 100% . CCDC39 2906 100% Primary Ciliary Dyskinesia CCDC39 2906 100% Primary Ciliary Dyskinesia14: CCDC39-Related Primary Ciliary Dyskinesia CCDC40 3509 99% Primary Ciliary Dyskinesia CCDC40 3509 99% Primary Ciliary Dyskinesia15: CCDC40-Related Primary Ciliary Dyskinesia CCDC41 2166 100% . CCDC42 979 100% . CCDC42B 955 41% . CCDC43 887 100% . CCDC47 1500 100% . CCDC48 1829 29% . CCDC50 1497 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant CCDC50 1497 100% DFNA44 Nonsyndromic Hearing Loss and Deafness CCDC51 1248 100% . CCDC53 613 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 96

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCDC54 991 100% . CCDC56 329 100% . CCDC57 2812 99% . CCDC58 455 100% . CCDC59 742 100% . CCDC6 1461 100% . CCDC60 1709 100% . CCDC61 1656 85% . CCDC62 2103 98% . CCDC63 1736 100% . CCDC64 1758 79% . CCDC64B 1563 67% . CCDC65 1487 100% . CCDC66 2919 100% . CCDC67 1867 100% . CCDC68 1048 100% . CCDC69 927 100% . CCDC7 1529 100% . CCDC70 706 100% . CCDC71 1408 100% . CCDC71L 712 18% . CCDC72 211 100% . CCDC73 3308 99% . CCDC74A 1169 98% . CCDC74B 1175 99% . CCDC75 812 100% . CCDC76 1490 100% . CCDC77 1747 100% . CCDC78 1373 93% . CCDC79 2252 73% . CCDC8 1621 100% 3-M Syndrome CCDC8 1621 100% 3-M Syndrome, CCDC8-Related CCDC80 2881 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 97

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCDC81 2180 88% . CCDC82 1663 100% . CCDC83 1379 100% . CCDC84 1043 90% . CCDC85A 1686 94% . CCDC85B 613 33% . CCDC85C 1284 25% . CCDC86 1099 100% . CCDC87 2554 100% . CCDC88A 6818 100% . CCDC88B 4539 72% . CCDC88C 6207 95% . CCDC89 1129 100% . CCDC9 1640 88% . CCDC90A 1116 64% . CCDC90B 801 100% . CCDC91 1374 100% . CCDC92 1012 100% . CCDC93 1992 98% . CCDC94 1004 90% . CCDC96 1672 94% . CCDC97 1052 96% . CCDC99 1862 100% . CCHCR1 2977 100% . CCIN 1771 100% . CCK 356 100% . CCKAR 1307 100% . CCKBR 1364 100% . CCL1 303 100% . CCL11 306 100% . CCL13 309 100% . CCL14 346 85% . CCL15 358 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 98

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCL16 375 100% . CCL17 297 100% . CCL18 282 100% . CCL19 313 99% . CCL2 312 100% . CCL20 426 100% . CCL21 421 100% . CCL22 294 100% . CCL23 600 100% . CCL24 372 100% . CCL25 597 88% . CCL26 297 97% . CCL27 351 100% . CCL28 396 100% . CCL3 291 100% . CCL3L1 588 42% . CCL3L3 588 42% . CCL4 291 100% . CCL4L1 582 59% . CCL4L2 582 59% . CCL5 288 99% . CCL7 312 100% . CCL8 312 100% . CCM2 1472 98% Familial Cerebral Cavernous Malformation CCM2 1472 98% Familial Cerebral Cavernous Malformation 2 CCNA1 1820 100% . CCNA2 1331 99% . CCNB1 1338 100% . CCNB1IP1 846 100% . CCNB2 1233 98% . CCNB3 4232 100% . CCNC 974 100% . CCND1 908 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 99

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCND2 890 100% . CCND3 1260 93% . CCNDBP1 1127 93% . CCNE1 1277 94% . CCNE2 1259 100% . CCNF 2429 99% . CCNG1 908 100% . CCNG2 1063 100% . CCNH 1135 100% . CCNI 1158 100% . CCNI2 1134 62% . CCNJ 1500 100% . CCNJL 1332 88% . CCNK 1783 82% . CCNL1 1625 89% . CCNL2 1633 99% . CCNO 1065 73% . CCNT1 2217 100% . CCNT2 5075 100% . CCNY 1145 97% . CCNYL1 1344 86% . CCP110 3198 100% . CCPG1 6652 100% . CCR1 1072 100% . CCR10 1097 89% . CCR2 2362 100% . CCR3 2278 95% . CCR4 1087 100% . CCR5 1063 100% . CCR6 1133 100% . CCR7 1149 100% . CCR8 1072 100% . CCR9 2211 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 100

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CCRL1 1057 100% . CCRL2 2130 100% . CCRN4L 1308 85% . CCS 857 95% . CCT2 1742 100% . CCT3 1694 98% . CCT4 1676 100% . CCT5 1670 100% Autosomal Recessive Sensory Neuropathy with Spastic Paraplegia CCT6A 1652 92% . CCT6B 1649 100% . CCT7 1838 100% . CCT8 1707 100% . CCT8L2 1678 100% . CCZ1 1509 82% . CCZ1B 1509 76% . CD101 3523 100% . CD109 4630 98% . CD14 1136 100% . CD151 790 99% . CD160 562 100% . CD163 3667 100% . CD163L1 4438 100% . CD164 840 84% . CD164L2 542 83% . CD177 1350 94% . CD180 1998 100% . CD19 1830 91% Common Variable Immune Deficiency CD1A 1008 100% . CD1B 1026 100% . CD1C 1026 100% . CD1D 1032 95% . CD1E 2028 100% . CD2 1076 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 101

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CD200 913 98% . CD200R1 1495 100% . CD200R1L 910 100% . CD207 1011 100% . CD209 2508 100% . CD22 2685 99% . CD226 1035 100% . CD24 247 100% . CD244 1444 100% . CD247 567 100% . CD248 2278 93% . CD27 807 100% . CD274 897 100% . CD276 1641 100% . CD28 1040 100% . CD2AP 1992 100% Focal Segmental Glomerulosclerosis CD2AP 1992 100% Focal Segmental Glomerulosclerosis 3 CD2BP2 1050 100% . CD300A 928 96% . CD300C 691 100% . CD300E 634 100% . CD300LB 733 100% . CD300LD 1293 100% . CD300LF 901 100% . CD300LG 1388 93% . CD302 723 90% . CD320 869 75% . CD33 1136 99% . CD34 1209 90% . CD36 1467 100% Platelet Glycoprotein IV Deficiency CD37 1007 100% . CD38 935 100% . CD3D 536 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3D-Related UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 102

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CD3E 656 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, CD3E-Related CD3EAP 1545 98% . CD3G 573 91% Immunodeficiency due to Defect in CD3-Gamma CD4 2327 100% . CD40 903 100% Immunodeficiency with Hyper-IgM, Type 3 CD40LG 806 100% X-Linked Hyper IgM Syndrome CD40LG 806 100% Choriodal Dystrophy, Central Areolar 2 CD44 2593 97% . CD46 1393 100% Atypical Hemolytic-Uremic Syndrome CD46 1393 100% CD46-Related Atypical Hemolytic-Uremic Syndrome CD47 1033 93% . CD48 1019 100% . CD5 1528 96% . CD52 194 100% . CD53 688 100% . CD55 1495 85% . CD58 826 92% . CD59 399 100% . CD5L 1068 100% . CD6 2059 80% . CD63 833 99% . CD68 1611 100% . CD69 620 100% . CD7 739 65% . CD70 594 100% . CD72 1112 95% . CD74 994 94% . CD79A 1005 88% . CD79B 775 100% . CD80 887 100% . CD81 743 98% . CD82 836 100% . CD83 1004 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 103

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CD84 1279 100% . CD86 1412 100% . CD8A 732 77% . CD8B 939 94% . CD9 719 97% . CD93 1967 99% . CD96 1818 100% C Syndrome CD97 2588 95% . CD99 1196 45% . CD99L2 912 92% . CDA 457 100% . CDADC1 1594 94% . CDAN1 3796 91% Congenital Dyserythropoietic Anemia Type I CDC123 1063 100% . CDC14A 2615 100% . CDC14B 1606 96% . CDC16 1935 97% . CDC20 1540 100% . CDC20B 1730 99% . CDC23 1858 100% . CDC25A 1635 89% . CDC25B 1939 89% . CDC25C 1474 100% . CDC26 266 100% . CDC27 2704 100% . CDC34 731 84% . CDC37 1169 100% . CDC37L1 1042 100% . CDC40 1800 100% . CDC42 690 100% . CDC42BPA 5304 99% . CDC42BPB 5284 92% . CDC42BPG 4804 84% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 104

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CDC42EP1 1184 91% . CDC42EP2 637 100% . CDC42EP3 769 100% . CDC42EP4 1075 100% . CDC42EP5 451 29% . CDC42SE1 252 100% . CDC42SE2 267 100% . CDC45 1873 95% . CDC5L 2473 99% . CDC6 1727 100% Meier-Gorlin Syndrome 5 CDC7 1769 100% . CDC73 1664 100% Hyperparathyroidism-Jaw Tumor Syndrome CDC73 1664 100% CDC73-Related Familial Isolated Hyperparathyroidism CDC73 1664 100% CDC73-Related Parathyroid Carcinoma CDC73 1664 100% CDC73-Related Disorders CDCA2 3128 100% . CDCA3 827 100% . CDCA4 730 100% . CDCA5 783 100% . CDCA7 1393 98% . CDCA7L 1550 100% . CDCA8 883 100% . CDCP1 2936 100% . CDCP2 1366 100% . CDH1 2713 98% Hereditary Diffuse Gastric Cancer CDH1 2713 98% Choriodal Dystrophy, Central Areolar 2 CDH10 2411 100% . CDH11 2435 100% . CDH12 2429 100% . CDH13 2396 99% . CDH15 2501 84% . CDH16 3396 99% . CDH17 2567 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 105

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CDH18 2673 100% . CDH19 2363 100% . CDH2 2785 98% . CDH20 2450 100% . CDH22 2531 81% . CDH23 12141 99% Usher Syndrome Type 1 CDH23 12141 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive CDH23 12141 99% Usher Syndrome Type 1D CDH23 12141 99% DFNB12 Nonsyndromic Hearing Loss and Deafness CDH24 2508 88% . CDH26 2593 100% . CDH3 2554 95% EEM Syndrome CDH4 3046 90% . CDH5 2399 99% . CDH6 2417 100% . CDH7 2402 100% . CDH8 2444 100% . CDH9 2414 100% . CDHR1 2850 95% . CDHR2 4057 99% . CDHR3 2734 100% . CDHR4 2443 21% . CDHR5 3184 95% . CDIPT 666 92% . CDK1 1074 100% . CDK10 1406 96% . CDK11A 2578 66% . CDK11B 2996 67% . CDK12 5246 100% . CDK13 5052 82% . CDK14 1408 100% . CDK15 1203 100% . CDK16 2005 87% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 106

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CDK17 1794 98% . CDK18 1812 85% . CDK19 1561 100% . CDK2 925 100% . CDK20 1673 81% . CDK2AP1 364 84% . CDK2AP2 397 61% . CDK3 946 100% . CDK4 940 100% Cutaneous Malignant Melanoma CDK4 940 100% CDK4-Related Cutaneous Malignant Melanoma CDK4 940 100% Choriodal Dystrophy, Central Areolar 2 CDK5 927 100% . CDK5R1 928 100% . CDK5R2 1108 78% . CDK5RAP1 2124 100% . CDK5RAP2 5834 100% Primary Autosomal Recessive Microcephaly Type 3 CDK5RAP2 5834 100% Primary Autosomal Recessive Microcephaly CDK5RAP3 1577 99% . CDK6 1009 98% . CDK7 1089 97% . CDK8 1447 100% . CDK9 1147 100% . CDKAL1 1796 100% . CDKL1 1113 100% . CDKL2 1522 100% . CDKL3 2168 100% . CDKL4 980 100% . CDKL5 3173 100% Epileptic Encephalopathy, Early Infantile, 2 CDKL5 3173 100% CDKL5-Related X-Linked Infantile Spasm Syndrome CDKL5 3173 100% CDKL5-Related Angelman-like Syndrome CDKN1A 503 100% . CDKN1B 605 100% Multiple Endocrine Neoplasia Type 4 CDKN1C 1783 17% Beckwith-Wiedemann Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 107

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CDKN1C 1783 17% Choriodal Dystrophy, Central Areolar 2 CDKN1C 1783 17% IMAGe Syndrome CDKN2A 1598 97% Cutaneous Malignant Melanoma CDKN2A 1598 97% CDKN2A-Related Cutaneous Malignant Melanoma CDKN2A 1598 97% Choriodal Dystrophy, Central Areolar 2 CDKN2AIP 1755 98% . CDKN2AIPNL 363 100% . CDKN2B 747 100% . CDKN2C 515 100% . CDKN2D 509 90% . CDKN3 758 98% . CDNF 580 99% . CDO1 623 100% . CDON 4150 100% CDON-Related Holoprosencephaly CDR1 793 100% . CDR2 1385 100% . CDR2L 1418 60% . CDRT1 2307 100% . CDRT15 579 100% . CDRT15L2 854 100% . CDRT4 464 100% . CDS1 1438 95% . CDS2 1390 96% . CDSN 1598 88% . CDT1 1681 91% Meier-Gorlin Syndrome 4 CDV3 918 73% . CDX1 810 49% . CDX2 954 76% . CDX4 867 100% . CDY1 6662 0% . CDY1B 6662 0% . CDY2A 3260 0% . CDY2B 3260 0% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 108

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CDYL 2334 99% . CDYL2 1549 98% . CEACAM1 1910 95% . CEACAM16 1302 94% . CEACAM18 1217 100% . CEACAM19 996 94% . CEACAM20 1931 100% . CEACAM21 1007 100% . CEACAM3 787 98% . CEACAM4 763 98% . CEACAM5 2145 100% . CEACAM6 1055 100% . CEACAM7 814 100% . CEACAM8 1070 100% . CEBPA 1081 43% Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA CEBPB 1042 49% . CEBPD 814 62% . CEBPE 854 100% . CEBPG 457 100% . CEBPZ 3229 100% . CECR1 1606 100% . CECR2 4403 100% . CECR5 1344 92% . CECR6 3482 54% . CEL 2315 84% Maturity-Onset Diabetes of the Young Type 8, with Exocrine Dysfunction CELA1 809 92% . CELA2A 842 100% . CELA2B 842 100% . CELA3A 845 100% . CELA3B 845 100% . CELF1 2126 96% . CELF2 2226 100% . CELF3 1454 80% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 109

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CELF4 1877 91% . CELF5 1937 97% . CELF6 1648 55% . CELSR1 9185 88% . CELSR2 8908 99% . CELSR3 10079 95% . CEMP1 821 100% . CEND1 454 98% . CENPA 439 76% . CENPB 1804 99% . CENPBD1 568 57% . CENPC1 2908 99% . CENPE 8302 99% . CENPF 9421 100% . CENPH 780 94% . CENPI 2351 100% . CENPJ 4081 100% Primary Autosomal Recessive Microcephaly CENPJ 4081 100% Primary Autosomal Recessive Microcephaly Type 6 CENPJ 4081 100% Seckel Syndrome 4 CENPK 846 100% . CENPL 1193 88% . CENPM 752 100% . CENPN 1277 100% . CENPO 927 100% . CENPP 899 100% . CENPQ 839 100% . CENPT 1738 97% . CENPV 839 69% . CENPW 279 100% . CEP104 2862 100% . CEP112 3138 100% . CEP120 3202 100% . CEP128 3377 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 110

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CEP135 3519 100% . CEP152 5237 100% Primary Autosomal Recessive Microcephaly Type 4 CEP152 5237 100% Primary Autosomal Recessive Microcephaly CEP152 5237 100% Seckel Syndrome 5 CEP164 4507 98% . CEP170 5282 100% . CEP19 512 100% . CEP192 7790 78% . CEP250 7457 97% . CEP290 7652 100% Bardet-Biedl Syndrome CEP290 7652 100% Leber Congenital Amaurosis CEP290 7652 100% Meckel Syndrome CEP290 7652 100% Joubert Syndrome and Related Disorders CEP290 7652 100% Senior-Loken Syndrome CEP290 7652 100% CEP290-Related Joubert Syndrome CEP290 7652 100% CEP290-Related Leber Congenital Amaurosis CEP290 7652 100% Senior-Loken Syndrome 6 CEP290 7652 100% CEP290-Related Meckel Syndrome CEP290 7652 100% CEP290-Related Bardet-Biedl Syndrome CEP350 9502 100% . CEP41 1166 100% Joubert Syndrome and Related Disorders CEP41 1166 100% CEP41-Related Joubert Syndrome CEP44 1331 91% . CEP55 1427 100% . CEP57 1547 100% . CEP57L1 1423 100% . CEP63 2271 95% . CEP68 2294 100% . CEP70 1858 100% . CEP72 1992 96% . CEP76 2028 100% . CEP78 2233 100% . CEP85 2341 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 111

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CEP85L 2848 97% . CEP89 2428 99% . CEP95 2546 99% . CEP97 2642 100% . CEPT1 1283 100% . CER1 812 100% . CERCAM 1836 87% . CERK 1666 88% . CERKL 1733 100% Retinitis Pigmentosa CERKL 1733 100% CERKL-Related Retinitis Pigmentosa CERS1 1203 62% . CERS2 1183 100% . CERS3 1192 100% . CERS4 1225 99% . CERS5 1219 98% . CERS6 1195 100% . CES1 2063 83% . CES2 2062 100% . CES3 1936 100% . CES4A 2223 84% . CES5A 1948 91% . CETN1 523 99% . CETN2 539 99% . CETN3 524 100% . CETP 1546 100% CETP-Related Hyperalphalipoproteinemia CFB 2367 100% Age-Related Macular Degeneration CFB 2367 100% Atypical Hemolytic-Uremic Syndrome CFB 2367 100% CFB-Related Atypical Hemolytic-Uremic Syndrome CFC1 1392 17% Heterotaxy Syndrome CFC1 1392 17% CFC1-Related Visceral Heterotaxy CFC1 1392 17% CFC1-Related Conotruncal Heart Malformations CFC1B 1392 17% . CFD 782 42% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 112

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CFDP1 928 100% . CFH 3802 100% Age-Related Macular Degeneration CFH 3802 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFH 3802 100% Atypical Hemolytic-Uremic Syndrome CFH 3802 100% CFH-Related Atypical Hemolytic-Uremic Syndrome CFH 3802 100% Age-Related Macular Degeneration 4 CFH 3802 100% CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFH 3802 100% Choriodal Dystrophy, Central Areolar 2 CFH 3802 100% Basal Laminar Drusen CFHR1 1017 90% Atypical Hemolytic-Uremic Syndrome CFHR1 1017 90% CFHR3 and CFHR1-Related Atypical Hemolytic-Uremic Syndrome CFHR2 833 94% . CFHR3 1017 91% Atypical Hemolytic-Uremic Syndrome CFHR3 1017 91% CFHR3 and CFHR1-Related Atypical Hemolytic-Uremic Syndrome CFHR4 1222 100% Atypical Hemolytic-Uremic Syndrome CFHR5 1750 100% Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFHR5 1750 100% CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II CFI 1804 100% Atypical Hemolytic-Uremic Syndrome CFI 1804 100% CFI-Related Atypical Hemolytic-Uremic Syndrome CFL1 517 99% . CFL2 836 100% Nemaline Myopathy CFL2 836 100% CFL2-Related Nemaline Myopathy CFLAR 1739 100% . CFP 1446 68% Properdin Deficiency, X-Linked CFP 1446 68% Choriodal Dystrophy, Central Areolar 2 CFTR 4551 100% CFTR-Related Disorders CFTR 4551 100% Hereditary Pancreatitis CFTR 4551 100% CFTR-Related Hereditary Pancreatitis CFTR 4551 100% Choriodal Dystrophy, Central Areolar 2 CGA 363 100% . CGB 510 58% . CGB1 480 99% . CGB2 504 83% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 113

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CGB5 510 100% . CGB7 510 98% . CGB8 510 98% . CGGBP1 508 100% . CGN 3692 99% . CGNL1 3981 100% . CGREF1 1917 93% . CGRRF1 1023 100% . CH25H 823 93% . CHAC1 1619 100% . CHAC2 567 100% . CHAD 1092 100% . CHADL 2313 30% . CHAF1A 2931 98% . CHAF1B 1732 100% . CHAMP1 2443 100% . CHAT 2456 88% Congenital Myasthenic Syndromes CHAT 2456 88% CHAT-Related Congenital Myasthenic Syndrome CHAT 2456 88% Choriodal Dystrophy, Central Areolar 2 CHCHD1 369 100% . CHCHD10 445 68% . CHCHD2 472 100% . CHCHD3 716 90% . CHCHD4 506 96% . CHCHD5 349 100% . CHCHD6 740 84% . CHCHD7 677 100% . CHCHD8 268 100% . CHD1 5273 100% . CHD1L 3174 96% . CHD2 5776 100% . CHD3 6444 92% . CHD4 5895 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 114

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CHD5 6029 97% . CHD6 8292 100% . CHD7 9142 100% CHARGE Syndrome CHD7 9142 100% Kallmann Syndrome CHD7 9142 100% Kallmann Syndrome 5 CHD8 7904 96% . CHD9 8798 100% . CHDH 1813 81% . CHEK1 1479 100% . CHEK2 1821 93% Prostate Cancer CHEK2 1821 93% CHEK2-Related Susceptibility to Breast Cancer CHEK2 1821 93% Li-Fraumeni Syndrome, CHEK2-Related CHEK2 1821 93% Choriodal Dystrophy, Central Areolar 2 CHERP 2819 73% . CHFR 2504 84% . CHGA 1406 76% . CHGB 2054 97% . CHI3L1 1192 99% . CHI3L2 1419 100% . CHIA 1645 100% . CHIC1 699 95% . CHIC2 522 97% . CHID1 1309 86% . CHIT1 1474 100% Chitotriosidase Deficiency CHKA 1422 89% . CHKB 1232 92% Congenital Muscular Dystrophy CHKB 1232 92% CHKB-Related Muscle Diseases CHKB 1232 92% Congenital Muscular Dystrophy, Megaconial Type CHL1 3779 100% . CHM 2045 98% Choroideremia CHM 2045 98% Choriodal Dystrophy, Central Areolar 2 CHML 1975 100% . CHMP1A 949 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 115

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CHMP1B 604 100% . CHMP2A 689 100% . CHMP2B 704 100% CHMP2B-Related Frontotemporal Dementia CHMP3 1187 100% . CHMP4A 822 100% . CHMP4B 695 99% . CHMP4C 722 96% . CHMP5 747 100% . CHMP6 638 66% . CHMP7 1402 83% . CHN1 1514 99% Duane Syndrome CHN1 1514 99% Duane Retraction Syndrome 2 CHN2 1877 100% . CHODL 1249 93% . CHORDC1 1043 100% . CHP 616 91% . CHP2 619 99% . CHPF 2922 88% . CHPF2 2335 100% . CHPT1 1292 94% . CHRAC1 408 96% . CHRD 2960 92% . CHRDL1 1743 100% . CHRDL2 1404 90% . CHRFAM7A 1443 58% . CHRM1 1387 100% . CHRM2 1405 100% . CHRM3 1777 100% . CHRM4 1444 100% . CHRM5 1603 100% . CHRNA1 1489 100% Congenital Myasthenic Syndromes CHRNA1 1489 100% CHRNA1-Related Congenital Myasthenic Syndrome CHRNA1 1489 100% CHRNA1-Related Multiple Pterygium Syndrome, Lethal Type UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 116

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CHRNA1 1489 100% Choriodal Dystrophy, Central Areolar 2 CHRNA10 1373 85% . CHRNA2 1614 97% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA2 1614 97% CHRNA2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA3 1708 95% . CHRNA4 1908 84% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA4 1908 84% CHRNA4-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNA4 1908 84% Choriodal Dystrophy, Central Areolar 2 CHRNA5 1431 92% . CHRNA6 1509 100% . CHRNA7 1782 72% . CHRNA9 1460 100% . CHRNB1 1550 99% Congenital Myasthenic Syndromes CHRNB1 1550 99% CHRNB1-Related Congenital Myasthenic Syndrome CHRNB1 1550 99% Choriodal Dystrophy, Central Areolar 2 CHRNB2 1533 84% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNB2 1533 84% CHRNB2-Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CHRNB2 1533 84% Choriodal Dystrophy, Central Areolar 2 CHRNB3 1401 100% . CHRNB4 1521 99% . CHRND 1602 100% Congenital Myasthenic Syndromes CHRND 1602 100% CHRND-Related Congenital Myasthenic Syndrome CHRND 1602 100% CHRND-Related Multiple Pterygium Syndrome, Lethal Type CHRND 1602 100% Choriodal Dystrophy, Central Areolar 2 CHRNE 1530 97% Congenital Myasthenic Syndromes CHRNE 1530 97% CHRNE-Related Congenital Myasthenic Syndrome CHRNE 1530 97% Choriodal Dystrophy, Central Areolar 2 CHRNG 1602 100% CHRNG-Related Disorders CHST1 1240 100% . CHST10 1091 100% . CHST11 1193 100% . CHST12 1249 100% . CHST13 1038 81% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 117

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CHST14 1135 84% Ehlers-Danlos Syndrome, Musculocontractural Type CHST15 2223 94% . CHST2 1597 77% . CHST3 1448 68% CHST3-Related Skeletal Dysplasia CHST3 1448 68% Spondyloepiphyseal Dysplasia, Omani Type CHST3 1448 68% Humerospinal Dysostosis CHST3 1448 68% Larsen Syndrome, Autosomal Recessive CHST4 1165 100% . CHST5 1240 96% . CHST6 1192 97% Macular Corneal Dystrophy 1 CHST7 1465 50% . CHST8 1287 100% . CHST9 2448 100% . CHSY1 2421 93% . CHSY3 2661 84% . CHTF18 3016 88% . CHTF8 378 100% . CHTOP 1165 100% . CHUK 2322 99% . CHURC1 533 100% . CHURC1-FNTB 1615 100% . CIAO1 1048 94% . CIAPIN1 971 100% . CIB1 604 83% . CIB2 588 100% . CIB3 588 100% . CIB4 586 89% . CIC 4907 95% . CIDEA 680 100% . CIDEB 680 95% . CIDEC 896 80% . CIITA 3469 100% Bare Lymphocyte Syndrome, Type II, Complementation Group A CILP 3587 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 118

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CILP2 3503 91% . CINP 922 95% . CIR1 1393 98% . CIRBP 543 100% . CIRH1A 2125 100% North American Indian Childhood Cirrhosis CISD1 339 100% . CISD2 420 100% Wolfram Syndrome 2 CISD3 400 0% . CISH 864 97% . CIT 6268 99% . CITED1 801 91% . CITED2 817 100% . CITED4 559 11% . CIZ1 4281 89% . CKAP2 2171 100% . CKAP2L 2274 100% . CKAP4 1817 74% . CKAP5 6271 100% . CKB 1174 86% . CKLF 488 100% . CKLF-CMTM1 798 100% . CKM 1174 99% . CKMT1A 1290 38% . CKMT1B 1290 45% . CKMT2 1296 100% . CKS1B 252 100% . CKS2 252 100% . CLASP1 5074 99% . CLASP2 4757 99% . CLASRP 2105 78% . CLC 445 100% . CLCA1 2801 100% . CLCA2 2888 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 119

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CLCA4 2816 100% . CLCC1 1922 100% . CLCF1 861 98% Cold-Induced Sweating Syndrome including Crisponi Syndrome CLCF1 861 98% CLCF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome CLCN1 3059 93% Myotonia Congenita, Autosomal Dominant CLCN1 3059 93% Myotonia Congenita, Autosomal Recessive CLCN1 3059 93% Myotonia Congenita CLCN1 3059 93% Choriodal Dystrophy, Central Areolar 2 CLCN2 2908 100% Juvenile Myoclonic Epilepsy CLCN2 2908 100% CLCN2-Related Juvenile Myoclonic Epilepsy CLCN3 2816 100% . CLCN4 2327 100% . CLCN5 2659 97% Dent Disease CLCN5 2659 97% Dent Disease 1 CLCN5 2659 97% Choriodal Dystrophy, Central Areolar 2 CLCN6 3171 99% . CLCN7 2518 75% CLCN7-Related Osteopetrosis CLCNKA 2228 96% Bartter Syndrome Type 4B CLCNKB 2566 99% Bartter Syndrome Type 3 CLCNKB 2566 99% Bartter Syndrome Type 4B CLCNKB 2566 99% Choriodal Dystrophy, Central Areolar 2 CLDN1 652 100% Ichthyosis, Leukocyte Vacuoles, Alopecia, and Sclerosing Cholangitis CLDN10 1143 100% . CLDN11 805 74% . CLDN12 739 100% . CLDN14 724 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive CLDN14 724 95% DFNB29 Nonsyndromic Hearing Loss and Deafness CLDN15 707 96% . CLDN16 938 100% Primary Hypomagnesemia CLDN17 679 100% . CLDN18 1030 93% . CLDN19 1357 42% Hypomagnesemia, Renal, with Ocular Involvement CLDN2 697 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 120

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CLDN20 664 100% . CLDN22 667 100% . CLDN23 883 70% . CLDN24 667 100% . CLDN25 694 100% . CLDN3 667 100% . CLDN4 634 100% . CLDN5 916 75% . CLDN6 667 100% . CLDN7 819 100% . CLDN8 682 100% . CLDN9 658 100% . CLDND1 1169 100% . CLDND2 520 99% . CLEC10A 1173 100% . CLEC11A 988 73% . CLEC12A 917 100% . CLEC12B 1013 100% . CLEC14A 1477 85% . CLEC16A 3796 99% . CLEC17A 949 100% . CLEC18A 1389 39% . CLEC18B 1420 96% . CLEC18C 1389 41% . CLEC1A 867 100% . CLEC1B 714 100% . CLEC2A 545 78% . CLEC2B 466 100% . CLEC2D 801 100% . CLEC2L 665 53% . CLEC3A 606 100% . CLEC3B 621 92% . CLEC4A 738 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 121

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CLEC4C 666 100% . CLEC4D 672 100% . CLEC4E 684 100% . CLEC4F 1798 99% . CLEC4G 977 85% . CLEC4M 5657 100% . CLEC5A 591 91% . CLEC6A 654 100% . CLEC7A 941 99% . CLEC9A 750 100% . CLECL1 704 100% . CLGN 1889 100% . CLIC1 750 100% . CLIC2 768 100% . CLIC3 735 63% . CLIC4 786 98% . CLIC5 1324 98% . CLIC6 2085 41% . CLINT1 2298 100% . CLIP1 4380 100% . CLIP2 3205 93% . CLIP3 1696 90% . CLIP4 2178 100% . CLK1 1633 100% . CLK2 1545 100% . CLK3 1969 77% . CLK4 1494 100% . CLLU1 370 100% . CLLU1OS 318 100% . CLMN 3061 100% . CLMP 1150 100% . CLN3 1377 99% Neuronal Ceroid-Lipofuscinosis, Juvenile CLN3 1377 99% Neuronal Ceroid-Lipofuscinoses UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 122

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CLN3 1377 99% CLN3-Related Neuronal Ceroid-Lipofuscinosis CLN5 1240 94% Neuronal Ceroid-Lipofuscinoses CLN5 1240 94% Neuronal Ceroid-Lipofuscinosis, Finnish Variant CLN5 1240 94% CLN5-Related Neuronal Ceroid-Lipofuscinosis CLN6 964 91% Neuronal Ceroid-Lipofuscinoses CLN6 964 91% CLN6-Related Neuronal Ceroid-Lipofuscinosis CLN8 869 100% Neuronal Ceroid-Lipofuscinoses CLN8 869 100% Northern Epilepsy CLN8 869 100% CLN8-Related Neuronal Ceroid-Lipofuscinosis CLNK 1359 100% . CLNS1A 738 96% . CLOCK 2621 100% . CLP1 1896 100% . CLPB 2192 100% . CLPP 858 76% . CLPS 351 100% . CLPTM1 2066 96% . CLPTM1L 1685 95% . CLPX 1958 96% . CLRN1 1078 96% Retinitis Pigmentosa, Autosomal Recessive CLRN1 1078 96% Usher Syndrome Type 3 CLRN1 1078 96% Retinitis Pigmentosa CLRN1 1078 96% Usher Syndrome Type 3A CLRN1 1078 96% CLRN1-Related Retinitis Pigmentosa CLRN2 711 100% . CLRN3 693 100% . CLSPN 4120 100% . CLSTN1 3022 97% . CLSTN2 2936 96% . CLSTN3 2943 93% . CLTA 951 94% . CLTB 714 100% . CLTC 5156 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 123

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CLTCL1 5051 99% . CLU 1411 100% . CLUAP1 1378 99% . CLUL1 1433 100% . CLVS1 1085 100% . CLVS2 1004 100% . CLYBL 1055 94% . CMA1 764 100% . CMAS 1337 91% . CMBL 758 100% . CMC1 337 93% . CMIP 2428 97% . CMKLR1 2253 100% . CMPK1 711 83% . CMPK2 1370 55% . CMTM1 1924 100% . CMTM2 763 100% . CMTM3 569 75% . CMTM4 898 78% . CMTM5 491 100% . CMTM6 568 82% . CMTM7 548 70% . CMTM8 538 85% . CMYA5 12262 100% . CNBD1 1355 99% . CNBP 1102 100% Myotonic Dystrophy Type 2 CNBP 1102 100% Choriodal Dystrophy, Central Areolar 2 CNDP1 1572 100% . CNDP2 1472 100% . CNFN 351 87% . CNGA1 2441 91% Retinitis Pigmentosa, Autosomal Recessive CNGA1 2441 91% Retinitis Pigmentosa CNGA1 2441 91% CNGA1-Related Retinitis Pigmentosa UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 124

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CNGA2 2019 96% . CNGA3 2113 100% Achromatopsia CNGA3 2113 100% Achromatopsia 2 CNGA4 1752 100% . CNGB1 3914 94% Retinitis Pigmentosa, Autosomal Recessive CNGB1 3914 94% Retinitis Pigmentosa CNGB1 3914 94% CNGB1-Related Retinitis Pigmentosa CNGB3 2502 100% Achromatopsia CNGB3 2502 100% Achromatopsia 3 CNGB3 2502 100% CNGB3-Related Stargardt Disease 1 CNGB3 2502 100% Stargardt Disease, Autosomal Recessive CNIH 455 81% . CNIH2 507 93% . CNIH3 507 78% . CNIH4 440 98% . CNKSR1 2226 96% . CNKSR2 3202 100% . CNKSR3 1720 100% . CNN1 922 100% . CNN2 958 93% . CNN3 1018 100% . CNNM1 2900 80% . CNNM2 2702 98% Hypomagnesemia 6, Renal CNNM3 2156 61% . CNNM4 2356 94% Jalili Syndrome CNO 658 50% . CNOT1 8068 99% . CNOT10 2311 99% . CNOT2 1683 100% . CNOT3 2330 98% . CNOT4 2429 100% . CNOT6 1718 100% . CNOT6L 1716 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 125

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CNOT7 1009 100% . CNOT8 903 100% . CNP 1282 99% . CNPPD1 1265 95% . CNPY1 291 100% . CNPY2 791 100% . CNPY3 861 95% . CNPY4 821 100% . CNR1 4269 100% . CNR2 1087 100% . CNRIP1 568 70% . CNST 3151 100% . CNTD1 1021 100% . CNTD2 944 59% . CNTF 611 100% . CNTFR 1151 85% . CNTLN 4552 97% . CNTN1 3149 100% . CNTN2 3211 100% . CNTN3 3175 100% . CNTN4 3435 100% . CNTN5 3509 99% . CNTN6 3175 100% . CNTNAP1 4251 99% . CNTNAP2 4092 98% Pitt-Hopkins-Like Syndrome 1 CNTNAP2 4092 98% Cortical Dysplasia-Focal Epilepsy Syndrome CNTNAP3 3963 84% . CNTNAP4 4036 100% . CNTNAP5 4017 100% . CNTRL 7146 100% . CNTROB 3057 100% . COA5 237 81% . COASY 2756 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 126

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) COBL 3838 99% . COBLL1 3557 99% . COBRA1 1795 81% . COCH 1697 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant COCH 1697 100% DFNA 9 Nonsyndromic Hearing Loss and Deafness COG1 2999 97% Congenital Disorders of Glycosylation COG1 2999 97% COG1-CDG (CDG-IIg) COG2 2436 100% . COG3 2579 99% . COG4 2446 100% Congenital Disorders of Glycosylation COG4 2446 100% COG4-CDG (CDG-IIj) COG5 2763 99% Congenital Disorders of Glycosylation COG5 2763 99% COG5-CDG (CDG-IIi) COG6 2076 96% Congenital Disorders of Glycosylation COG6 2076 96% COG6-CDG (CDG-IIL) COG7 2381 100% Congenital Disorders of Glycosylation COG7 2381 100% COG7-CDG (CDG-IIe) COG8 1859 96% Congenital Disorders of Glycosylation COG8 1859 96% COG8-CDG (CDG-IIh) COIL 1759 100% . COL10A1 2051 100% Metaphyseal Chondrodysplasia, Schmid Type COL10A1 2051 100% Choriodal Dystrophy, Central Areolar 2 COL11A1 5846 100% Stickler Syndrome COL11A1 5846 100% Fibrochondrogenesis 1 COL11A1 5846 100% Marshall Syndrome COL11A1 5846 100% COL11A1-Related Stickler Syndrome COL11A1 5846 100% Choriodal Dystrophy, Central Areolar 2 COL11A2 5821 95% Stickler Syndrome COL11A2 5821 95% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant COL11A2 5821 95% COL11A2-Related Stickler Syndrome COL11A2 5821 95% Otospondylomegaepiphyseal Dysplasia COL11A2 5821 95% Weissenbacher-Zweymuller Syndrome COL11A2 5821 95% DFNA13 Nonsyndromic Hearing Loss and Deafness UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 127

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) COL11A2 5821 95% Fibrochondrogenesis 2 COL11A2 5821 95% Choriodal Dystrophy, Central Areolar 2 COL12A1 9452 99% . COL13A1 2314 98% . COL14A1 5579 100% . COL15A1 4335 100% . COL16A1 5095 94% . COL17A1 4714 99% COL17A1-Related Junctional Epidermolysis Bullosa COL17A1 4714 99% Junctional Epidermolysis Bullosa COL17A1 4714 99% Choriodal Dystrophy, Central Areolar 2 COL18A1 5538 72% Knobloch Syndrome Type I COL19A1 3629 100% . COL1A1 4599 96% Osteogenesis Imperfecta Type I COL1A1 4599 96% Osteogenesis Imperfecta Type IIA COL1A1 4599 96% Osteogenesis Imperfecta Type III COL1A1 4599 96% Osteogenesis Imperfecta Type IV COL1A1 4599 96% Ehlers-Danlos Syndrome, Arthrochalasia Type COL1A1 4599 96% Caffey Disease COL1A1 4599 96% COL1A1/2-Related Osteogenesis Imperfecta COL1A1 4599 96% Ehlers-Danlos Syndrome Type VIIA COL1A1 4599 96% Ehlers-Danlos Syndrome, Classic Type, COL1A1-Related COL1A1 4599 96% Choriodal Dystrophy, Central Areolar 2 COL1A2 4309 95% Osteogenesis Imperfecta Type I COL1A2 4309 95% Osteogenesis Imperfecta Type IIA COL1A2 4309 95% Osteogenesis Imperfecta Type III COL1A2 4309 95% Osteogenesis Imperfecta Type IV COL1A2 4309 95% Ehlers-Danlos Syndrome, Arthrochalasia Type COL1A2 4309 95% COL1A1/2-Related Osteogenesis Imperfecta COL1A2 4309 95% Ehlers-Danlos Syndrome Type VIIB COL1A2 4309 95% Choriodal Dystrophy, Central Areolar 2 COL20A1 3991 93% . COL21A1 2990 100% . COL22A1 5137 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 128

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) COL23A1 1739 68% . COL24A1 5385 100% . COL25A1 2335 100% . COL27A1 5827 91% . COL28A1 3514 100% . COL2A1 4680 91% Stickler Syndrome COL2A1 4680 91% Spondyloepiphyseal Dysplasia Congenita COL2A1 4680 91% Achondrogenesis Type 2 COL2A1 4680 91% Spondyloepimetaphyseal Dysplasia, Strudwick Type COL2A1 4680 91% Kniest Dysplasia COL2A1 4680 91% Type II Collagenopathies COL2A1 4680 91% Spondyloepiphyseal Dysplasia COL2A1 4680 91% COL2A1-Associated Stickler Syndrome COL2A1 4680 91% COL2A1-Related Stickler Syndrome COL2A1 4680 91% Avascular Necrosis of Femoral Head, Primary COL2A1 4680 91% Platyspondylic Lethal Skeletal Dysplasia, Torrance Type COL2A1 4680 91% Spondyloperipheral Dysplasia COL2A1 4680 91% Osteoarthritis with Mild Chondrodysplasia COL2A1 4680 91% Choriodal Dystrophy, Central Areolar 2 COL3A1 4605 93% Ehlers-Danlos Syndrome Type IV COL3A1 4605 93% Choriodal Dystrophy, Central Areolar 2 COL4A1 5218 98% COL4A1-Related Disorders COL4A1 5218 98% Autosomal Dominant Type 1 Porencephaly COL4A1 5218 98% Brain Small Vessel Disease with Hemorrhage COL4A1 5218 98% Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps COL4A2 5327 89% . COL4A3 5221 97% COL4A3 Alport Syndrome and Thin Basement Membrane Nephropathy COL4A3 5221 97% Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) COL4A3 5221 97% Choriodal Dystrophy, Central Areolar 2 COL4A3BP 2729 91% . COL4A4 5261 100% COL4A4 Alport Syndrome and Thin Basement Membrane Nephropathy COL4A4 5261 100% Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) COL4A4 5261 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 129

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) COL4A5 5600 97% COL4A5 Alport Syndrome COL4A5 5600 97% Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy) COL4A5 5600 97% Choriodal Dystrophy, Central Areolar 2 COL4A6 5271 99% . COL5A1 5781 91% Ehlers-Danlos Syndrome, Classic Type COL5A1 5781 91% Ehlers-Danlos Syndrome, Classic Type, COL5A1-Related COL5A1 5781 91% Choriodal Dystrophy, Central Areolar 2 COL5A2 4716 98% Ehlers-Danlos Syndrome, Classic Type COL5A2 4716 98% Ehlers-Danlos Syndrome, Classic Type, COL5A2-Related COL5A2 4716 98% Choriodal Dystrophy, Central Areolar 2 COL5A3 5506 93% . COL6A1 3227 85% Congenital Muscular Dystrophy COL6A1 3227 85% Collagen Type VI-Related Disorders COL6A1 3227 85% Choriodal Dystrophy, Central Areolar 2 COL6A2 3498 95% Congenital Muscular Dystrophy COL6A2 3498 95% Collagen Type VI-Related Disorders COL6A2 3498 95% Myosclerosis, Autosomal Recessive COL6A2 3498 95% Choriodal Dystrophy, Central Areolar 2 COL6A3 10410 100% Congenital Muscular Dystrophy COL6A3 10410 100% Collagen Type VI-Related Disorders COL6A3 10410 100% Choriodal Dystrophy, Central Areolar 2 COL6A5 7737 31% . COL6A6 6936 100% . COL7A1 9307 98% Recessive Dystrophic Epidermolysis Bullosa, Generalized, Severe COL7A1 9307 98% Dystrophic Epidermolysis Bullosa COL7A1 9307 98% Choriodal Dystrophy, Central Areolar 2 COL8A1 2243 99% . COL8A2 2120 74% . COL9A1 2994 99% Stickler Syndrome COL9A1 2994 99% COL9A1-Related Multiple Epiphyseal Dysplasia COL9A1 2994 99% Multiple Epiphyseal Dysplasia, Dominant COL9A1 2994 99% COL9A1-Related Stickler Syndrome COL9A1 2994 99% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 130

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) COL9A2 2198 71% Stickler Syndrome COL9A2 2198 71% COL9A2-Related Multiple Epiphyseal Dysplasia COL9A2 2198 71% Multiple Epiphyseal Dysplasia, Dominant COL9A2 2198 71% COL9A2-Related Stickler Syndrome COL9A2 2198 71% Choriodal Dystrophy, Central Areolar 2 COL9A3 2183 74% COL9A3-Related Multiple Epiphyseal Dysplasia COL9A3 2183 74% Multiple Epiphyseal Dysplasia, Dominant COL9A3 2183 74% Choriodal Dystrophy, Central Areolar 2 COLEC10 858 100% . COLEC11 1191 98% . COLEC12 2269 99% . COLQ 1516 96% Congenital Myasthenic Syndromes COLQ 1516 96% COLQ-Related Congenital Myasthenic Syndrome COLQ 1516 96% Choriodal Dystrophy, Central Areolar 2 COMMD1 585 100% . COMMD10 637 100% . COMMD2 620 100% . COMMD3 620 77% . COMMD3-BMI1 1447 90% . COMMD4 632 99% . COMMD5 679 100% . COMMD6 317 100% . COMMD7 697 87% . COMMD8 572 88% . COMMD9 621 91% . COMP 2350 84% Pseudoachondroplasia COMP 2350 84% COMP-Related Multiple Epiphyseal Dysplasia COMP 2350 84% Multiple Epiphyseal Dysplasia, Dominant COMP 2350 84% Choriodal Dystrophy, Central Areolar 2 COMT 1125 95% . COMTD1 817 44% . COPA 4004 100% . COPB1 2946 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 131

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) COPB2 2809 100% . COPE 967 74% . COPG 2721 98% . COPG2 1259 100% . COPS2 1520 100% . COPS3 1454 100% . COPS4 1261 100% . COPS5 1037 100% . COPS6 1024 93% . COPS7A 856 100% . COPS7B 819 99% . COPS8 737 100% . COPZ1 570 96% . COPZ2 665 84% . COQ10A 806 95% . COQ10B 737 100% . COQ2 1294 91% Coenzyme Q10 Deficiency COQ2 1294 91% COQ2-Related Coenzyme Q10 Deficiency COQ3 1138 100% . COQ4 826 99% . COQ5 1012 100% . COQ6 1455 91% . COQ7 861 100% . COQ9 993 92% Coenzyme Q10 Deficiency COQ9 993 92% COQ9-Related Coenzyme Q10 Deficiency CORIN 3217 100% . CORO1A 1426 92% . CORO1B 1510 93% . CORO1C 1465 100% . CORO2A 1622 98% . CORO2B 1491 98% . CORO6 1459 90% . CORO7 2965 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 132

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CORO7-PAM16 3271 91% . CORT 326 100% . COTL1 445 67% . COX10 1360 100% Leigh Syndrome (nuclear DNA mutation) COX10 1360 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) COX11 979 87% . COX15 1339 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) COX16 337 100% . COX17 200 100% . COX18 1026 78% . COX19 285 100% . COX4I1 526 100% . COX4I2 532 100% Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis COX4NB 817 98% . COX5A 469 78% . COX5B 406 74% . COX6A1 342 100% . COX6A2 306 28% . COX6B1 273 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) COX6B2 279 77% . COX6C 236 100% . COX7A1 256 90% . COX7A2 364 100% . COX7A2L 357 100% . COX7B 255 100% . COX7B2 250 100% . COX7C 200 100% . COX8A 218 82% . COX8C 227 99% . CP 3274 100% Aceruloplasminemia CP 3274 100% Choriodal Dystrophy, Central Areolar 2 CPA1 1300 100% . CPA2 1304 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 133

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CPA3 1298 100% . CPA4 1310 100% . CPA5 1547 92% . CPA6 1358 100% . CPAMD8 5967 86% . CPB1 1298 100% . CPB2 1694 100% . CPD 4227 88% . CPE 1467 91% . CPEB1 2051 93% . CPEB2 3457 58% . CPEB3 2496 80% . CPEB4 2230 100% . CPLX1 417 100% . CPLX2 417 94% . CPLX3 489 100% . CPLX4 495 100% . CPM 1364 100% . CPN1 1413 100% . CPN2 1642 100% . CPNE1 4718 100% . CPNE2 1707 92% . CPNE3 1674 100% . CPNE4 1734 100% . CPNE5 1866 85% . CPNE6 1734 100% . CPNE7 1970 72% . CPNE8 1775 95% . CPNE9 1742 99% . CPO 1161 100% . CPOX 1393 86% Hereditary Coproporphyria CPOX 1393 86% Choriodal Dystrophy, Central Areolar 2 CPPED1 961 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 134

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CPS1 4922 100% Carbamoylphosphate Synthetase I Deficiency CPS1 4922 100% Choriodal Dystrophy, Central Areolar 2 CPSF1 4480 87% . CPSF2 2405 100% . CPSF3 2127 100% . CPSF3L 2076 86% . CPSF4 1017 99% . CPSF4L 564 86% . CPSF6 1692 100% . CPSF7 1871 96% . CPT1A 2434 100% Carnitine Palmitoyltransferase IA Deficiency CPT1A 2434 100% Choriodal Dystrophy, Central Areolar 2 CPT1B 2781 100% . CPT1C 2596 97% . CPT2 1997 93% Carnitine Palmitoyltransferase II Deficiency CPT2 1997 93% Choriodal Dystrophy, Central Areolar 2 CPVL 1479 100% . CPXCR1 910 100% . CPXM1 2563 91% . CPXM2 2327 89% . CPZ 2382 94% . CR1 7658 70% . CR1L 1758 100% . CR2 3355 98% . CRABP1 430 95% . CRABP2 433 100% . CRADD 608 100% . CRAMP1L 3890 80% . CRAT 1937 96% . CRB1 4269 100% Retinitis Pigmentosa, Autosomal Recessive CRB1 4269 100% Leber Congenital Amaurosis CRB1 4269 100% Retinitis Pigmentosa CRB1 4269 100% CRB1-Related Leber Congenital Amaurosis UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 135

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CRB1 4269 100% CRB1-Related Retinitis Pigmentosa CRB1 4269 100% Pigmented Paravenous Chorioretinal Atrophy CRB1 4269 100% Choriodal Dystrophy, Central Areolar 2 CRB2 3910 79% . CRB3 662 89% . CRBN 1484 100% . CRCP 561 100% . CRCT1 304 88% . CREB1 1058 100% . CREB3 1152 100% . CREB3L1 1608 99% . CREB3L2 1703 89% . CREB3L3 1426 100% . CREB3L4 1402 100% . CREB5 1796 100% . CREBBP 7453 97% Rubinstein-Taybi Syndrome CREBBP 7453 97% CREBBP-Related Rubinstein-Taybi Syndrome CREBBP 7453 97% Choriodal Dystrophy, Central Areolar 2 CREBL2 379 100% . CREBZF 1069 100% . CREG1 679 48% . CREG2 889 54% . CRELD1 1720 98% Heterotaxy Syndrome CRELD2 1253 82% . CREM 1861 96% . CRH 595 49% Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CRH 595 49% CRH-Related Related Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant CRHBP 997 99% . CRHR1 1516 92% . CRHR2 1398 82% . CRIM1 3179 99% . CRIP1 250 82% . CRIP2 659 66% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 136

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CRIP3 647 100% . CRIPAK 1345 100% . CRIPT 326 94% . CRISP1 910 100% . CRISP2 760 100% . CRISP3 947 96% . CRISPLD1 1559 100% . CRISPLD2 1550 100% . CRK 1609 100% . CRKL 924 100% . CRLF1 1305 84% Cold-Induced Sweating Syndrome including Crisponi Syndrome CRLF1 1305 84% Crisponi Syndrome CRLF1 1305 84% CRLF1-Related Cold-Induced Sweating Syndrome including Crisponi Syndrome CRLF2 2202 50% . CRLF3 1361 99% . CRLS1 947 67% . CRMP1 2160 80% . CRNKL1 2607 97% . CRNN 1496 100% . CROCC 6202 64% . CROT 2120 100% . CRP 683 100% . CRTAC1 2046 89% . CRTAM 1222 100% . CRTAP 1234 97% CRTAP-Related Osteogenesis Imperfecta CRTC1 2013 85% . CRTC2 2138 100% . CRTC3 2133 96% . CRX 912 100% Retinitis Pigmentosa, Autosomal Dominant CRX 912 100% Leber Congenital Amaurosis CRX 912 100% Retinitis Pigmentosa CRX 912 100% CRX-Related Leber Congenital Amaurosis CRX 912 100% Cone-Rod Dystrophy 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 137

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CRX 912 100% CRX-Related Retinitis Pigmentosa CRX 912 100% Choriodal Dystrophy, Central Areolar 2 CRY1 1809 100% . CRY2 1925 90% . CRYAA 534 100% Cataract, Autosomal Recessive Congenital 1 CRYAB 540 96% Myofibrillar Myopathy CRYAB 540 96% Alpha-B Crystallinopathy CRYAB 540 96% Posterior Polar Cataract 2 CRYBA1 672 100% . CRYBA2 610 100% . CRYBA4 611 100% . CRYBB1 779 100% Cataract, Congenital Nuclear, Autosomal Recessive 3 CRYBB2 638 100% . CRYBB3 656 100% Cataract, Congenital Nuclear, Autosomal Recessive 2 CRYGA 537 100% . CRYGB 540 100% . CRYGC 537 100% . CRYGD 537 98% Cataracts, Autosomal Dominant CRYGN 565 97% . CRYGS 549 100% . CRYL1 992 96% . CRYM 1151 74% . CRYZ 1179 100% . CRYZL1 1098 100% . CS 1445 97% . CSAD 1763 95% . CSAG1 249 100% . CSAG2 1420 0% . CSAG3 1420 0% . CSDA 1155 82% . CSDC2 474 68% . CSDE1 2611 100% . CSE1L 3012 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 138

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CSF1 3755 99% . CSF1R 3003 100% CSF1R-Related Hereditary Diffuse Leukoencephalopathy with Spheroids CSF2 451 100% . CSF2RA 3974 47% Pulmonary Surfactant Metabolism Dysfunction CSF2RA 3974 47% CSF2RA-Related Pulmonary Surfactant Metabolism Dysfunction CSF2RB 2746 94% . CSF3 812 88% . CSF3R 3873 99% . CSGALNACT1 1627 100% . CSGALNACT2 1657 100% . CSH1 1543 88% . CSH2 939 91% . CSHL1 929 100% . CSK 1401 97% . CSMD1 10975 100% . CSMD2 10740 98% . CSMD3 11470 100% . CSN1S1 664 99% . CSN2 705 100% . CSN3 561 100% . CSNK1A1 1142 100% . CSNK1A1L 1018 100% . CSNK1D 1321 83% . CSNK1E 1287 94% . CSNK1G1 1313 100% . CSNK1G2 1292 92% . CSNK1G3 1420 100% . CSNK2A1 1288 100% . CSNK2A2 1097 99% . CSNK2B 672 100% . CSPG4 7009 92% . CSPG5 2986 96% . CSPP1 3782 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 139

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CSRNP1 1786 93% . CSRNP2 1648 100% . CSRNP3 1774 100% . CSRP1 736 100% . CSRP2 602 100% . CSRP2BP 2389 100% . CSRP3 605 100% Familial Hypertrophic Cardiomyopathy CSRP3 605 100% Dilated Cardiomyopathy CSRP3 605 100% CSRP3-Related Familial Hypertrophic Cardiomyopathy CSRP3 605 100% CSRP3-Related Dilated Cardiomyopathy CSRP3 605 100% Choriodal Dystrophy, Central Areolar 2 CST1 438 100% . CST11 429 100% . CST2 438 100% . CST3 453 52% . CST4 438 100% . CST5 441 100% . CST6 462 94% . CST7 454 100% . CST8 441 100% . CST9 488 100% . CST9L 456 100% . CSTA 309 100% . CSTB 309 77% Unverricht-Lundborg Disease CSTB 309 77% Choriodal Dystrophy, Central Areolar 2 CSTF1 1316 100% . CSTF2 1786 99% . CSTF2T 1855 100% . CSTF3 2630 100% . CSTL1 450 100% . CT45A1 586 22% . CT45A2 586 2% . CT45A3 586 18% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 140

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CT45A4 1172 1% . CT45A5 586 59% . CT45A6 586 6% . CT47A1 8750 1% . CT47A10 7875 0% . CT47A11 7875 0% . CT47A12 7875 0% . CT47A2 7875 0% . CT47A3 7875 0% . CT47A4 7875 0% . CT47A5 7875 0% . CT47A6 8750 2% . CT47A7 875 0% . CT47A8 7875 0% . CT47A9 7875 0% . CT47B1 908 100% . CT62 419 97% . CTAG1A 1110 0% . CTAG1B 1110 0% . CTAG2 1794 97% . CTAGE1 2242 100% . CTAGE15P 2338 47% . CTAGE4 4676 40% . CTAGE5 2853 100% . CTAGE6P 2338 49% . CTAGE9 2338 100% . CTBP1 1370 69% . CTBP2 3056 96% . CTBS 1186 91% . CTC1 3746 98% CTC1-Related Dyskeratosis Congenita CTCF 2362 100% . CTCFL 2032 100% . CTDNEP1 767 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 141

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CTDP1 3169 81% Congenital Cataracts, Facial Dysmorphism, and Neuropathy CTDSP1 923 92% . CTDSP2 848 99% . CTDSPL 863 90% . CTDSPL2 1449 100% . CTF1 741 35% . CTGF 1070 73% . CTH 1266 100% Cystathioninuria CTH 1266 100% Choriodal Dystrophy, Central Areolar 2 CTHRC1 748 79% . CTIF 2344 98% . CTLA4 797 100% . CTNNA1 2789 100% . CTNNA2 2786 100% . CTNNA3 2756 100% . CTNNAL1 2281 94% . CTNNB1 2402 100% . CTNNBIP1 258 67% . CTNNBL1 1756 93% . CTNND1 3339 100% . CTNND2 3766 90% . CTNS 1404 100% Cystinosis CTNS 1404 100% Nephropathic Cystinosis CTNS 1404 100% Choriodal Dystrophy, Central Areolar 2 CTPS 1844 100% . CTPS2 1829 100% . CTR9 3622 100% . CTRB1 820 44% . CTRB2 820 37% . CTRC 839 100% Hereditary Pancreatitis CTRC 839 100% CTRC-Related Hereditary Pancreatitis CTRL 823 95% . CTSA 1557 97% Galactosialidosis UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 142

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CTSA 1557 97% Choriodal Dystrophy, Central Areolar 2 CTSB 1056 100% . CTSC 1551 90% Papillon-Lefevre Disease CTSC 1551 90% Papillon-Lefevre Syndrome CTSC 1551 90% Haim-Munk Syndrome CTSD 1275 94% Neuronal Ceroid-Lipofuscinoses CTSD 1275 94% CTSD-Related Neuronal Ceroid-Lipofuscinosis CTSE 1482 100% . CTSF 1507 83% . CTSG 788 100% . CTSH 1056 85% . CTSK 1018 100% Pycnodysostosis CTSK 1018 100% Choriodal Dystrophy, Central Areolar 2 CTSL1 1030 100% . CTSL2 1033 100% . CTSO 998 86% . CTSS 1024 100% . CTSW 1171 98% . CTSZ 936 84% . CTTN 2272 99% . CTTNBP2 5084 100% . CTTNBP2NL 1936 100% . CTU1 1055 34% . CTU2 1682 96% . CTXN1 253 81% . CTXN2 250 0% . CTXN3 250 100% . CUBN 11140 100% Megaloblastic Anemia CUEDC1 1197 94% . CUEDC2 896 100% . CUL1 2415 100% . CUL2 2545 98% . CUL3 2371 99% Pseudohypoaldosteronism Type IIE UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 143

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CUL4A 2468 90% . CUL4B 3399 100% Mental Retardation, X-Linked, with Short Stature, Small Testes, Muscle Wasting, and Tremor CUL5 2419 100% . CUL7 6141 97% 3-M Syndrome CUL7 6141 97% 3-M Syndrome, CUL7-Related CUL9 7714 100% . CUTA 886 100% . CUTC 858 93% . CUX1 5692 92% . CUX2 4549 91% . CUZD1 1860 100% . CWC15 713 100% . CWC22 2803 100% . CWC25 1318 99% . CWC27 1475 100% . CWF19L1 1673 100% . CWF19L2 2757 100% . CWH43 2164 98% . CX3CL1 1206 100% . CX3CR1 2253 100% . CXADR 1933 98% . CXCL1 340 100% . CXCL10 313 100% . CXCL11 301 100% . CXCL12 656 91% . CXCL13 346 100% . CXCL14 352 71% . CXCL16 842 99% . CXCL17 376 100% . CXCL2 340 99% . CXCL3 340 100% . CXCL5 361 100% . CXCL6 361 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 144

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CXCL9 394 100% . CXCR1 1057 100% . CXCR2 1087 100% . CXCR3 2520 93% . CXCR4 2169 100% . CXCR5 2199 100% . CXCR6 1033 100% . CXCR7 1093 100% . CXorf1 340 100% . CXorf21 910 100% . CXorf22 2995 100% . CXorf23 2093 100% . CXorf26 726 95% . CXorf27 358 100% . CXorf30 1958 100% . CXorf36 1377 97% . CXorf38 984 98% . CXorf40A 726 100% . CXorf40B 485 100% . CXorf41 669 100% . CXorf48 1019 54% . CXorf49 3130 0% . CXorf49B 3130 0% . CXorf51A 670 0% . CXorf51B 670 0% . CXorf56 819 100% . CXorf57 2793 100% . CXorf58 1189 100% . CXorf59 1549 100% . CXorf61 350 100% . CXorf64 905 100% . CXorf65 576 100% . CXorf66 1098 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 145

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CXorf68 312 100% . CXorf69 256 92% . CXXC1 2167 100% . CXXC11 1727 86% . CXXC4 605 100% . CXXC5 977 100% . CYB561 776 96% . CYB561D1 2209 85% . CYB561D2 681 100% . CYB5A 438 100% . CYB5B 473 100% . CYB5D1 703 100% . CYB5D2 956 100% . CYB5R1 954 100% . CYB5R2 863 99% . CYB5R3 1202 76% Methemoglobinemia Due to Deficiency of Methemoglobin Reductase CYB5R4 1630 100% . CYB5RL 972 100% . CYBA 612 48% Chronic Granulomatous Disease (3292) CYBA 612 48% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Negative CYBA 612 48% Chronic Granulomatous Disease CYBA 612 48% Choriodal Dystrophy, Central Areolar 2 CYBASC3 1007 96% . CYBB 1765 100% Chronic Granulomatous Disease (3292) CYBB 1765 100% Chronic Granulomatous Disease, X-linked CYBB 1765 100% Chronic Granulomatous Disease CYBB 1765 100% Choriodal Dystrophy, Central Areolar 2 CYBRD1 1185 99% . CYC1 1006 87% . CYCS 326 100% Thrombocytopenia 4 CYFIP1 4802 93% . CYFIP2 3882 100% . CYGB 589 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 146

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CYHR1 1932 97% . CYLC1 1976 100% . CYLC2 1067 100% . CYLD 3046 100% Familial Cylindromatosis CYLD 3046 100% Brooke-Spiegler Syndrome CYLD 3046 100% Multiple Familial Trichoepithelioma 1 CYP11A1 1806 100% . CYP11B1 1548 100% Glucocorticoid-Remediable Aldosteronism CYP11B1 1548 100% 11-beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP11B1 1548 100% Choriodal Dystrophy, Central Areolar 2 CYP11B2 1548 100% Glucocorticoid-Remediable Aldosteronism CYP11B2 1548 100% Familial Hypoaldosteronism Type 2 CYP11B2 1548 100% Corticosterone Methyloxidase Type I Deficiency CYP11B2 1548 100% Corticosterone Methyloxidase Type II Deficiency CYP11B2 1548 100% Choriodal Dystrophy, Central Areolar 2 CYP17A1 1559 99% 17-alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP19A1 1548 100% Aromatase Deficiency CYP1A1 1563 100% . CYP1A2 1575 100% . CYP1B1 1640 93% CYP1B1-Related Primary Congenital Glaucoma CYP1B1 1640 93% Peters Anomaly CYP1B1 1640 93% CYP1B1-Related Primary Congenital Glaucoma (319426) CYP1B1 1640 93% Primary Congenital Glaucoma CYP1B1 1640 93% Choriodal Dystrophy, Central Areolar 2 CYP20A1 1441 100% . CYP21A2 3049 80% 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP21A2 3049 80% Choriodal Dystrophy, Central Areolar 2 CYP24A1 1589 93% Hypercalcemia, Infantile CYP26A1 1751 99% . CYP26B1 1563 94% . CYP26C1 1593 74% . CYP27A1 1632 97% Cerebrotendinous Xanthomatosis CYP27A1 1632 97% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 147

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CYP27B1 1563 88% Vitamin D-Dependent Rickets, Type I CYP27B1 1563 88% Choriodal Dystrophy, Central Areolar 2 CYP27C1 1147 100% . CYP2A13 1521 100% . CYP2A6 1521 100% . CYP2A7 1725 100% . CYP2B6 1512 100% . CYP2C18 1509 100% . CYP2C19 1509 100% . CYP2C8 1705 100% . CYP2C9 1509 100% . CYP2D6 1530 96% . CYP2E1 1518 100% . CYP2F1 1512 100% . CYP2J2 1545 100% . CYP2R1 1526 100% . CYP2S1 1551 82% . CYP2U1 1655 73% . CYP2W1 1509 57% . CYP39A1 1458 100% . CYP3A4 1696 100% . CYP3A43 1837 100% . CYP3A5 1670 100% . CYP3A7 1564 100% . CYP46A1 1563 81% . CYP4A11 1608 100% . CYP4A22 1608 100% . CYP4B1 1746 100% . CYP4F11 1623 100% . CYP4F12 1623 100% . CYP4F2 1611 100% . CYP4F22 1644 99% Autosomal Recessive Congenital Ichthyosis CYP4F22 1644 99% CYP4F22-Related Autosomal Recessive Congenital Ichthyosis UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 148

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) CYP4F3 1760 100% . CYP4F8 1610 100% . CYP4V2 1622 92% Bietti Crystalline Dystrophy CYP4V2 1622 92% Corneal Dystrophy CYP4X1 1578 100% . CYP4Z1 1566 97% . CYP51A1 1751 100% . CYP7A1 1539 100% . CYP7B1 1545 92% Spastic Paraplegia 5A CYP7B1 1545 92% Bile Acid Synthesis Defect, Congenital, 3 CYP8B1 1510 100% . CYR61 1166 99% . CYS1 489 20% . CYSLTR1 1018 100% . CYSLTR2 1045 100% . CYTH1 1449 98% . CYTH2 1451 98% . CYTH3 1252 93% . CYTH4 1237 100% . CYTIP 1112 100% . CYTL1 427 85% . CYYR1 481 100% . D2HGDH 1602 87% D-2-Hydroxyglutaric Aciduria 1 D4S234E 574 100% . DAAM1 3337 100% . DAAM2 3433 99% . DAB1 1720 100% . DAB2 2365 100% . DAB2IP 3894 93% . DACH1 2171 89% Anophthalmia/Microphthalmia DACH2 1900 95% . DACT1 4408 93% . DACT2 2341 77% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 149

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DACT3 1906 40% . DAD1 350 100% . DAG1 2696 100% . DAGLA 3205 100% . DAGLB 2079 100% . DAK 1796 96% . DALRD3 1941 85% . DAND5 578 100% . DAO 1084 100% . DAOA 1185 100% . DAP 325 84% . DAP3 1245 100% . DAPK1 4393 100% . DAPK2 1157 99% . DAPK3 1397 83% . DAPL1 340 84% . DAPP1 879 100% . DARC 2067 100% . DARS 1570 100% . DARS2 2006 100% Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation DAXX 3355 100% . DAZ1 2343 2% . DAZ2 3540 7% . DAZ3 4169 8% . DAZ4 6132 6% . DAZAP1 1365 95% . DAZAP2 2252 100% . DAZL 999 99% . DBC1 2314 100% . DBF4 2073 100% . DBF4B 2595 99% . DBH 1902 100% Dopamine Beta-Hydroxylase Deficiency DBI 825 88% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 150

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DBN1 2102 92% . DBNDD1 588 92% . DBNDD2 2131 86% . DBNL 1538 87% . DBP 994 51% . DBR1 1667 100% . DBT 1493 100% Maple Syrup Urine Disease DBT 1493 100% Maple Syrup Urine Disease Type 2 DBT 1493 100% Choriodal Dystrophy, Central Areolar 2 DBX1 1048 79% . DBX2 1036 69% . DCAF10 1708 85% . DCAF11 1988 100% . DCAF12 1398 100% . DCAF12L1 1396 100% . DCAF12L2 1396 100% . DCAF13 1838 100% . DCAF15 1855 93% . DCAF16 655 100% . DCAF17 1619 93% Woodhouse-Sakati Syndrome DCAF4 2171 100% . DCAF4L1 1195 100% . DCAF4L2 1192 100% . DCAF5 2865 100% . DCAF6 2944 98% . DCAF7 1273 100% . DCAF8 1842 99% . DCAF8L1 1807 100% . DCAF8L2 1900 76% . DCAKD 712 100% . DCBLD1 1840 94% . DCBLD2 2392 94% . DCC 4460 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 151

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DCD 353 89% . DCDC1 1093 100% . DCDC2 1615 100% . DCDC2B 1086 93% . DCDC5 2633 100% . DCHS1 9977 96% . DCHS2 11085 92% . DCK 811 100% . DCLK1 2618 99% . DCLK2 2420 98% . DCLK3 1963 100% . DCLRE1A 3159 100% . DCLRE1B 1615 100% . DCLRE1C 2259 100% Omenn Syndrome DCN 1307 100% Congenital Stromal Corneal Dystrophy DCP1A 1789 100% . DCP1B 1890 100% . DCP2 1307 100% . DCPS 1038 100% . DCST1 2185 99% . DCST2 2382 100% . DCT 1699 100% . DCTD 713 96% . DCTN1 4261 98% Distal Hereditary Motor Neuronopathy Type VIIB DCTN1 4261 98% Perry Syndrome DCTN2 1263 97% . DCTN3 847 98% . DCTN4 1535 98% . DCTN5 715 80% . DCTN6 601 98% . DCTPP1 525 98% . DCUN1D1 808 100% . DCUN1D2 808 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 152

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DCUN1D3 923 100% . DCUN1D4 923 97% . DCUN1D5 746 100% . DCX 2006 100% DCX-Related Disorders DCX 2006 100% Choriodal Dystrophy, Central Areolar 2 DCXR 869 73% . DDA1 329 72% . DDAH1 986 95% . DDAH2 882 100% . DDB1 3531 98% . DDB2 1324 100% Xeroderma Pigmentosum DDB2 1324 100% DDB2-Related Xeroderma Pigmentosum DDC 1495 100% Aromatic L-Amino Acid Decarboxylase Deficiency DDC 1495 100% Choriodal Dystrophy, Central Areolar 2 DDHD1 2780 95% . DDHD2 2449 100% . DDI1 1195 100% . DDI2 1236 99% . DDIT3 798 100% . DDIT4 707 100% . DDIT4L 590 100% . DDN 2144 100% . DDO 1130 100% . DDOST 1415 84% Congenital Disorders of Glycosylation DDOST 1415 84% DDOST-CDG (CDG-Ir) DDR1 3460 100% . DDR2 2632 100% Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type DDRGK1 981 89% . DDT 369 21% . DDTL 417 30% . DDX1 2327 99% . DDX10 2700 100% . DDX11 3336 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 153

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DDX17 2495 95% . DDX18 2069 100% . DDX19A 1485 100% . DDX19B 1585 98% . DDX20 2519 97% . DDX21 2412 100% . DDX23 2527 100% . DDX24 2612 100% . DDX25 1500 96% . DDX26B 2654 98% . DDX27 2475 100% . DDX28 1627 98% . DDX31 2643 96% . DDX39A 1324 100% . DDX39B 1327 100% . DDX3X 2201 100% . DDX3Y 2051 99% . DDX4 2300 98% . DDX41 1937 100% . DDX42 2885 100% . DDX43 2011 100% . DDX46 3188 100% . DDX47 1416 100% . DDX49 1504 91% . DDX5 1897 99% . DDX50 2274 97% . DDX51 2061 75% . DDX52 1860 100% . DDX53 1900 99% . DDX54 2969 93% . DDX55 1859 94% . DDX56 1700 100% . DDX58 2850 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 154

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DDX59 1888 100% . DDX6 1500 100% . DDX60 5287 100% . DDX60L 5269 100% . DEAF1 1746 81% . DECR1 1048 100% 2,4-Dienoyl-CoA Reductase Deficiency DECR1 1048 100% Choriodal Dystrophy, Central Areolar 2 DECR2 911 84% . DEDD 973 100% . DEDD2 997 95% . DEF6 1940 86% . DEF8 2432 89% . DEFA1 879 32% . DEFA1B 879 32% . DEFA3 293 96% . DEFA4 302 100% . DEFA5 293 100% . DEFA6 311 100% . DEFB1 215 100% . DEFB103A 424 0% . DEFB103B 424 0% . DEFB104A 454 61% . DEFB104B 454 61% . DEFB105A 498 32% . DEFB105B 498 32% . DEFB106A 412 88% . DEFB106B 412 88% . DEFB107A 442 23% . DEFB107B 442 23% . DEFB108B 230 100% . DEFB110 350 100% . DEFB112 350 100% . DEFB113 257 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 155

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DEFB114 218 100% . DEFB115 275 100% . DEFB116 317 100% . DEFB118 380 100% . DEFB119 715 100% . DEFB121 265 100% . DEFB123 212 100% . DEFB124 224 100% . DEFB125 479 100% . DEFB126 344 100% . DEFB127 308 100% . DEFB128 290 100% . DEFB129 560 100% . DEFB130 496 15% . DEFB131 221 100% . DEFB132 296 99% . DEFB133 194 100% . DEFB134 209 100% . DEFB135 242 100% . DEFB136 245 100% . DEFB4A 203 31% . DEGS1 984 91% . DEGS2 984 91% . DEK 1168 100% . DEM1 1126 100% . DENND1A 3225 84% . DENND1B 2750 99% . DENND1C 2498 97% . DENND2A 3102 97% . DENND2C 2684 100% . DENND2D 1464 100% . DENND3 3685 100% . DENND4A 5845 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 156

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DENND4B 4599 100% . DENND4C 5134 100% . DENND5A 4317 99% . DENND5B 3909 97% . DENR 625 98% . DEPDC1 2484 100% . DEPDC1B 1634 97% . DEPDC4 905 100% . DEPDC5 5132 100% . DEPDC7 1622 96% . DEPTOR 1266 100% . DERA 993 97% . DERL1 903 100% . DERL2 748 100% . DERL3 949 76% . DES 1449 84% Dilated Cardiomyopathy DES 1449 84% Myofibrillar Myopathy DES 1449 84% Desminopathy DES 1449 84% DES-Related Dilated Cardiomyopathy DES 1449 84% Neurogenic Scapuloperoneal Syndrome , Kaeser Type DES 1449 84% Choriodal Dystrophy, Central Areolar 2 DET1 2803 100% . DEXI 292 96% . DFFA 1224 100% . DFFB 1045 99% . DFNA5 1703 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant DFNA5 1703 100% DFNA 5 Nonsyndromic Hearing Loss and Deafness DFNB31 3165 97% Usher Syndrome Type 2 DFNB31 3165 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive DFNB31 3165 97% Usher Syndrome Type 2D DFNB31 3165 97% DFNB31 Nonsyndromic Hearing Loss and Deafness DFNB59 1083 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive DFNB59 1083 100% DFNB59 Nonsyndromic Hearing Loss and Deafness UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 157

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DGAT1 1535 84% . DGAT2 1199 100% . DGAT2L6 1042 95% . DGCR14 1471 100% . DGCR2 1917 93% . DGCR6 683 96% . DGCR6L 683 96% . DGCR8 2374 100% . DGKA 2300 100% . DGKB 2610 100% . DGKD 3928 96% . DGKE 1748 100% . DGKG 2472 100% . DGKH 3986 98% . DGKI 3334 93% . DGKK 3927 98% . DGKQ 2921 72% . DGKZ 4358 72% . DGUOK 862 100% DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form DGUOK 862 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form DHCR24 1587 100% Desmosterolosis DHCR7 1456 100% Smith-Lemli-Opitz Syndrome DHCR7 1456 100% Choriodal Dystrophy, Central Areolar 2 DHDDS 1281 100% Retinitis Pigmentosa, Autosomal Recessive DHDDS 1281 100% Retinitis Pigmentosa DHDDS 1281 100% DHDDS-Related Retinitis Pigmentosa DHDH 1033 89% . DHFR 588 100% Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency DHFRL1 568 100% . DHH 1203 72% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis DHH 1203 72% DHH-Related 46,XY DSD and 46,XY CGD DHODH 1224 88% Postaxial Acrofacial Dysostosis DHPS 1276 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 158

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DHRS1 974 100% . DHRS11 811 83% . DHRS12 1018 85% . DHRS13 1154 88% . DHRS2 1250 100% . DHRS3 933 100% . DHRS4 869 100% . DHRS4L1 886 91% . DHRS4L2 957 92% . DHRS7 1048 100% . DHRS7B 1006 98% . DHRS7C 1175 100% . DHRS9 976 100% . DHRSX 2042 44% . DHTKD1 2828 99% . DHX15 2444 100% . DHX16 3237 100% . DHX29 4218 100% . DHX30 3676 100% . DHX32 2276 100% . DHX33 2404 99% . DHX34 3496 94% . DHX35 2200 100% . DHX36 3187 100% . DHX37 3582 97% . DHX38 3788 94% . DHX40 2584 93% . DHX57 4253 100% . DHX58 2085 100% . DHX8 3755 100% . DHX9 3921 100% . DIABLO 744 100% . DIAPH1 3931 93% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 159

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DIAPH1 3931 93% DFNA 1 Nonsyndromic Hearing Loss and Deafness DIAPH2 3468 97% . DIAPH3 3939 100% . DICER1 6043 100% Pleuropulmonary Blastoma DIDO1 7457 98% . DIEXF 2319 100% . DIMT1 990 100% . DIO1 1180 100% . DIO2 942 100% . DIO3 919 100% . DIP2A 5601 96% . DIP2B 4883 98% . DIP2C 4819 99% . DIRAS1 601 100% . DIRAS2 604 100% . DIRAS3 694 100% . DIRC1 319 100% . DIRC2 1473 91% . DIS3 3033 96% . DIS3L 3391 96% . DIS3L2 2738 96% Perlman Syndrome DISC1 6041 89% . DISP1 4603 100% . DISP2 4238 95% . DIXDC1 2158 99% . DKC1 1713 99% Dyskeratosis Congenita DKC1 1713 99% DKC1-Related Dyskeratosis Congenita DKC1 1713 99% Choriodal Dystrophy, Central Areolar 2 DKFZp761E198 2470 79% . DKK1 817 100% . DKK2 796 100% . DKK3 1081 96% . DKK4 691 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 160

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DKKL1 894 100% . DLAT 2000 100% Dihydrolipoamide Acetyltransferase (E2) Deficiency DLAT 2000 100% Pyruvate Dehydrogenase Complex Deficiency DLC1 4890 100% . DLD 1586 100% Leigh Syndrome (nuclear DNA mutation) DLD 1586 100% Maple Syrup Urine Disease Type 3 DLD 1586 100% Pyruvate Dehydrogenase Complex Deficiency DLD 1586 100% Dihydrolipoamide Dehydrogenase (E3) Deficiency DLEC1 5930 100% . DLEU7 491 46% . DLG1 3023 100% . DLG2 3356 100% . DLG3 2937 82% X-Linked Mental Retardation 90 DLG4 2490 98% . DLG5 5888 96% . DLGAP1 3564 98% . DLGAP2 2972 100% . DLGAP3 2980 85% . DLGAP4 3559 100% . DLGAP5 2835 99% . DLK1 1172 99% . DLK2 1172 89% . DLL1 2216 83% . DLL3 2087 63% DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive DLL3 2087 63% Syndactyly, Type IV DLL3 2087 63% Spondylocostal Dysostosis DLL3 2087 63% Spondylocostal Dysostosis, Autosomal Recessive DLL4 2102 100% . DLST 1538 98% . DLX1 1039 100% . DLX2 999 85% . DLX3 876 99% Amelogenesis Imperfecta, Type IV DLX3 876 99% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 161

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DLX4 1070 100% . DLX5 882 100% . DLX6 894 88% . DMAP1 1444 98% . DMBT1 7454 79% . DMBX1 1363 100% . DMC1 1075 100% . DMD 12312 97% Dystrophinopathies DMD 12312 97% DMD-Associated Dilated Cardiomyopathy DMD 12312 97% DMD-Related Dilated Cardiomyopathy DMD 12312 97% Choriodal Dystrophy, Central Areolar 2 DMGDH 2665 96% . DMKN 1876 95% . DMP1 1562 100% Hypophosphatemic Rickets, Autosomal Recessive 1 DMPK 2959 80% Myotonic Dystrophy Type 1 DMPK 2959 80% Choriodal Dystrophy, Central Areolar 2 DMRT1 1142 90% . DMRT2 1755 71% . DMRT3 1427 95% . DMRTA1 1523 91% . DMRTA2 1637 45% . DMRTB1 1045 74% . DMRTC1 1206 18% . DMRTC1B 1206 18% . DMRTC2 1136 98% . DMTF1 2446 100% . DMWD 2045 83% . DMXL1 9256 99% . DMXL2 9421 99% . DNA2 3525 100% . DNAAF1 2226 95% Primary Ciliary Dyskinesia DNAAF1 2226 95% Primary Ciliary Dyskinesia13: DNAAF1-Related Primary Ciliary Dyskinesia DNAAF2 2526 95% Primary Ciliary Dyskinesia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 162

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DNAAF2 2526 95% Primary Ciliary Dyskinesia10: DNAAF2-Related Primary Ciliary Dyskinesia DNAH1 13106 100% . DNAH10 13728 99% . DNAH11 14044 99% Primary Ciliary Dyskinesia DNAH11 14044 99% Primary Ciliary Dyskinesia 7: DNAH11-Related Primary Ciliary Dyskinesia DNAH12 9554 62% . DNAH14 14183 76% . DNAH17 13709 100% . DNAH2 13624 100% . DNAH3 12599 100% . DNAH5 14191 99% Primary Ciliary Dyskinesia DNAH5 14191 99% Primary Ciliary Dyskinesia 3: DNAH5-Related Primary Ciliary Dyskinesia DNAH6 12781 100% . DNAH7 12335 100% . DNAH8 13829 100% . DNAH9 13882 97% . DNAI1 2180 95% Primary Ciliary Dyskinesia DNAI1 2180 95% Primary Ciliary Dyskinesia 1: DNAI1-Related Primary Ciliary Dyskinesia DNAI2 2017 100% Primary Ciliary Dyskinesia DNAI2 2017 100% Primary Ciliary Dyskinesia 9: DNAI2-Related Primary Ciliary Dyskinesia DNAJA1 1226 100% . DNAJA2 1275 100% . DNAJA3 1514 96% . DNAJA4 1511 94% . DNAJB1 1035 100% . DNAJB11 1117 98% . DNAJB12 1262 100% . DNAJB13 983 100% . DNAJB14 1172 100% . DNAJB2 1382 100% . DNAJB3 442 100% . DNAJB4 1026 100% . DNAJB5 1714 78% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 163

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DNAJB6 1162 82% Limb-Girdle Muscular Dystrophy Type 1E DNAJB6 1162 82% DNAJB6-Related Myofibrillar Myopathy DNAJB7 934 100% . DNAJB8 703 100% . DNAJB9 680 100% . DNAJC1 1713 94% . DNAJC10 2470 100% . DNAJC11 1744 100% . DNAJC12 815 100% . DNAJC13 6952 100% . DNAJC14 2133 100% . DNAJC15 477 100% . DNAJC16 2405 100% . DNAJC17 959 100% . DNAJC18 1109 100% . DNAJC19 453 99% 3-Methylglutaconic Aciduria Type 5 DNAJC2 1934 100% . DNAJC21 1783 99% . DNAJC22 1034 100% . DNAJC24 466 100% . DNAJC25 1099 71% . DNAJC25-GNG10 470 32% . DNAJC27 987 100% . DNAJC28 1171 100% . DNAJC3 1563 100% . DNAJC30 685 100% . DNAJC4 750 91% . DNAJC5 613 91% Neuronal Ceroid-Lipofuscinoses DNAJC5 613 91% DNAJC5-Related Neuronal Ceroid-Lipofuscinosis DNAJC5B 616 100% . DNAJC5G 586 100% . DNAJC6 2818 100% . DNAJC7 1670 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 164

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DNAJC8 798 100% . DNAJC9 803 94% . DNAL1 719 100% Primary Ciliary Dyskinesia DNAL1 719 100% Primary Ciliary Dyskinesia16: DNAL1-Related Primary Ciliary Dyskinesia DNAL4 330 80% . DNALI1 867 100% . DNASE1 881 100% DNASE1-Related Susceptibility to Systemic Lupus Erythematosus DNASE1L1 937 98% . DNASE1L2 924 77% . DNASE1L3 950 100% . DNASE2 1107 96% . DNASE2B 1312 100% . DND1 1078 78% . DNER 2266 88% . DNHD1 14586 56% . DNLZ 549 73% . DNM1 2704 87% . DNM1L 2291 100% Lethal Encephalopathy due to Defective Mitochondrial Peroxisomal Fission DNM2 2914 95% Centronuclear Myopathy 1 DNM2 2914 95% DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy DNM3 2676 99% . DNMBP 4798 100% . DNMT1 5063 97% DNMT1-Related Dementia, Deafness, and Sensory Neuropathy DNMT3A 3288 95% . DNMT3B 2842 100% Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome DNMT3L 1381 98% . DNPEP 1518 100% . DNTT 1662 100% . DNTTIP1 1042 92% . DNTTIP2 2299 100% . DOC2A 1243 92% . DOC2B 947 44% . DOCK1 5806 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 165

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DOCK10 6785 98% . DOCK11 6434 98% . DOCK2 5701 99% . DOCK3 6305 97% . DOCK4 6109 100% . DOCK5 5821 100% . DOCK6 6336 94% . DOCK7 6526 99% . DOCK8 7507 98% Autosomal Recessive Hyper IgE Syndrome DOCK9 6812 98% . DOHH 925 46% . DOK1 1564 100% . DOK2 1259 87% . DOK3 2054 79% . DOK4 1013 100% . DOK5 953 100% . DOK6 1028 100% . DOK7 2495 89% Congenital Myasthenic Syndromes DOK7 2495 89% DOK7-Related Congenital Myasthenic Syndrome DOK7 2495 89% DOK7-Related Fetal Akinesia Deformation Sequence DOLK 1621 100% Congenital Disorders of Glycosylation DOLK 1621 100% DOLK-CDG (CDG-Im) DOLPP1 749 100% . DOM3Z 1215 100% . DONSON 1741 85% . DOPEY1 7660 100% . DOPEY2 7041 100% . DOT1L 4726 96% . DPAGT1 1263 100% Congenital Disorders of Glycosylation DPAGT1 1263 100% DPAGT1-CDG (CDG-Ij) DPCD 636 94% . DPCR1 4194 83% . DPEP1 1276 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 166

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DPEP2 1501 92% . DPEP3 1671 90% . DPF1 1604 86% . DPF2 1220 100% . DPF3 1110 100% . DPH1 1380 92% . DPH2 1494 91% . DPH3 261 100% . DPH3P1 241 100% . DPH5 1114 100% . DPM1 819 100% Congenital Disorders of Glycosylation DPM1 819 100% DPM1-CDG (CDG-Ie) DPM2 271 100% . DPM3 746 99% Congenital Disorders of Glycosylation DPM3 746 99% DPM3-CDG (CDG-Io) DPP10 2785 96% . DPP3 2282 100% . DPP4 2405 100% . DPP6 2818 97% . DPP7 1531 84% . DPP8 3051 100% . DPP9 2759 97% . DPPA2 925 100% . DPPA3 496 100% . DPPA4 943 100% . DPPA5 363 100% . DPRX 588 100% . DPT 622 100% . DPY19L1 2116 96% . DPY19L2 2365 99% Spermatogenic Failure 9 DPY19L3 2223 100% . DPY19L4 2248 99% . DPY30 316 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 167

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DPYD 3213 100% Dihydropyrimidine Dehydrogenase Deficiency DPYS 1596 83% Dihydropyrimidinase Deficiency DPYSL2 2226 84% . DPYSL3 2154 83% . DPYSL4 1775 97% . DPYSL5 1743 100% . DQX1 2198 100% . DR1 543 100% . DRAM1 745 82% . DRAM2 829 100% . DRAP1 646 93% . DRD1 1345 100% . DRD2 1360 100% . DRD3 1801 100% Hereditary Essential Tremor 1 DRD4 1276 48% . DRD5 1438 99% . DRG1 1140 100% . DRG2 1147 90% . DRGX 831 100% . DROSHA 4257 100% . DRP2 3130 93% . DSC1 2789 100% . DSC2 2810 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy DSC2 2810 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11 DSC3 2786 97% . DSCAM 6171 100% . DSCAML1 6474 96% . DSCC1 1218 90% . DSCR3 926 100% . DSCR4 369 100% . DSCR6 589 82% . DSE 2897 96% . DSEL 3673 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 168

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DSG1 3210 100% . DSG2 3417 99% Dilated Cardiomyopathy DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy DSG2 3417 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10 DSG2 3417 99% DSG2-Related Dilated Cardiomyopathy DSG3 3064 100% . DSG4 3651 100% Localized Autosomal Recessive Hypotrichosis DSN1 1436 100% . DSP 11011 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy DSP 11011 99% Cardiomyopathy, Dilated, with Woolly Hair and Keratoderma DSP 11011 99% Skin Fragility-Woolly Hair Syndrome DSP 11011 99% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8 DSP 11011 99% Epidermolysis Bullosa, Lethal Acantholytic DSP 11011 99% Ectodermal Dysplasia/Skin Fragility Syndrome DSP 11011 99% DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome DSP 11011 99% Choriodal Dystrophy, Central Areolar 2 DSPP 3922 46% Dentin Dysplasia, Type II DSPP 3922 46% Dentinogenesis Imperfecta 1 DSPP 3922 46% Dentinogenesis Imperfecta, Shields Type III DST 20492 100% . DSTN 826 99% . DSTYK 2842 99% . DTD1 650 92% . DTHD1 2403 79% . DTL 2253 100% . DTNA 3000 92% Familial Isolated Noncompaction of Left Ventricular Myocardium DTNA 3000 92% Choriodal Dystrophy, Central Areolar 2 DTNB 2178 100% . DTNBP1 1446 100% Hermansky-Pudlak Syndrome DTNBP1 1446 100% Hermansky-Pudlak Syndrome 7 DTWD1 931 100% . DTWD2 921 96% . DTX1 1899 76% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 169

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DTX2 1905 89% . DTX3 1060 100% . DTX3L 2243 100% . DTX4 1896 100% . DTYMK 861 92% . DUOX1 4788 94% . DUOX2 4779 91% Congenital Hypothyroidism, DUOX2-Related DUOX2 4779 91% Congenital Hypothyroidism DUOXA1 2133 99% . DUOXA2 1348 99% . DUPD1 675 100% . DUS1L 1474 100% . DUS2L 1542 100% . DUS3L 2298 91% . DUS4L 978 100% . DUSP1 1120 79% . DUSP10 1837 100% . DUSP11 1170 100% . DUSP12 1047 98% . DUSP13 1653 83% . DUSP14 601 100% . DUSP15 912 68% . DUSP16 2022 100% . DUSP18 571 100% . DUSP19 670 100% . DUSP2 961 51% . DUSP21 577 100% . DUSP22 587 100% . DUSP23 461 41% . DUSP26 648 100% . DUSP27 3497 96% . DUSP28 539 66% . DUSP3 570 78% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 170

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DUSP4 1365 97% . DUSP5 1171 100% . DUSP6 1158 100% . DUSP7 1272 82% . DUSP8 1902 49% . DUSP9 1167 68% . DUT 1121 84% . DUX2 14862 3% . DUX4 7302 0% Facioscapulohumeral Muscular Dystrophy DUX4L2 15800 9% . DUX4L3 17262 8% . DUX4L4 5842 2% . DUX4L5 17262 8% . DUX4L6 17262 8% . DUX4L7 5578 13% . DUXA 639 100% . DVL1 2073 85% . DVL2 2271 100% . DVL3 2211 100% . DYDC1 558 100% . DYDC2 546 100% . DYM 2074 100% Dyggve-Melchior-Clausen Syndrome DYM 2074 100% Smith-McCort Dysplasia DYNC1H1 14253 99% Charcot-Marie-Tooth Neuropathy Type 2 DYNC1H1 14253 99% Charcot-Marie-Tooth Neuropathy Type 2O DYNC1H1 14253 99% Mental Retardation, Autosomal Dominant 13 DYNC1H1 14253 99% Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant DYNC1I1 2148 100% . DYNC1I2 1985 100% . DYNC1LI1 1624 99% . DYNC1LI2 1531 100% . DYNC2H1 13305 98% Short Rib Polydactyly Syndrome, Verma-Naumoff Type DYNC2H1 13305 98% Asphyxiating Thoracic Dystrophy 3 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 171

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) DYNC2H1 13305 98% Asphyxiating Thoracic Dystrophy DYNC2LI1 1576 100% . DYNLL1 278 100% . DYNLL2 278 100% . DYNLRB1 307 100% . DYNLRB2 307 99% . DYNLT1 362 100% . DYNLT3 371 91% . DYRK1A 3382 100% . DYRK1B 2570 60% . DYRK2 3430 99% . DYRK3 1800 96% . DYRK4 1607 100% . DYSF 6722 94% Limb-Girdle Muscular Dystrophies, Autosomal Recessive DYSF 6722 94% Dysferlinopathy DYTN 1785 100% . DYX1C1 1516 100% . DZANK1 2339 100% . DZIP1 2684 99% . DZIP1L 2373 99% . DZIP3 3751 100% . E2F1 1342 76% . E2F2 1342 94% . E2F3 1650 98% . E2F4 1282 91% . E2F5 1291 89% . E2F6 874 95% . E2F7 2784 100% . E2F8 2652 100% . E4F1 2411 82% . EAF1 831 87% . EAF2 807 100% . EAPP 882 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 172

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EARS2 1608 99% . EBAG9 666 100% . EBF1 1840 90% . EBF2 1792 97% . EBF3 1720 100% . EBF4 1865 59% . EBI3 710 99% . EBLN2 823 98% . EBNA1BP2 1219 88% . EBP 709 88% Chondrodysplasia Punctata 2, X-Linked EBPL 637 98% . ECD 2090 95% . ECE1 2921 93% Hirschsprung Disease ECE1 2921 93% ECE1-Related Hirschsprung Disease ECE1 2921 93% Choriodal Dystrophy, Central Areolar 2 ECE2 3521 98% . ECEL1 2396 85% . ECH1 1027 95% . ECHDC1 1406 100% . ECHDC2 919 96% . ECHDC3 932 80% . ECHS1 905 90% . ECI1 1063 84% . ECI2 1392 100% . ECM1 1854 100% . ECM2 2784 100% . ECSCR 350 49% . ECSIT 1697 94% . ECT2 2744 100% . ECT2L 2795 100% . EDA 1549 90% Hypohidrotic Ectodermal Dysplasia, X-Linked EDA 1549 90% Hypohidrotic Ectodermal Dysplasia EDA 1549 90% Tooth Agenesis, Selective, X-Linked, 1 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 173

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EDA 1549 90% Choriodal Dystrophy, Central Areolar 2 EDA2R 1295 92% . EDAR 1391 97% Hypohidrotic Ectodermal Dysplasia, Autosomal EDAR 1391 97% Hypohidrotic Ectodermal Dysplasia EDAR 1391 97% Choriodal Dystrophy, Central Areolar 2 EDARADD 707 95% Hypohidrotic Ectodermal Dysplasia, Autosomal EDARADD 707 95% Hypohidrotic Ectodermal Dysplasia EDARADD 707 95% Choriodal Dystrophy, Central Areolar 2 EDC3 1551 100% . EDC4 4322 98% . EDDM3A 448 100% . EDDM3B 448 100% . EDEM1 2022 94% . EDEM2 1781 100% . EDEM3 2879 100% . EDF1 635 100% . EDIL3 1487 100% . EDN1 832 100% . EDN2 557 88% . EDN3 1135 100% Hirschsprung Disease EDN3 1135 100% EDN3-Related Hirschsprung Disease EDN3 1135 100% Waardenburg Syndrome Type IVB EDN3 1135 100% Choriodal Dystrophy, Central Areolar 2 EDNRA 1515 100% . EDNRB 1965 99% Hirschsprung Disease EDNRB 1965 99% EDNRB-Related Hirschsprung Disease EDNRB 1965 99% Waardenburg Syndrome Type IVA EDNRB 1965 99% Choriodal Dystrophy, Central Areolar 2 EEA1 4352 100% . EED 1460 100% . EEF1A1 1417 100% . EEF1A2 1420 80% . EEF1B2 702 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 174

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EEF1D 2208 98% . EEF1E1 581 93% . EEF1G 1354 100% . EEF2 2637 90% . EEF2K 2246 99% . EEFSEC 1819 92% . EEPD1 1738 100% . EFCAB1 660 100% . EFCAB11 516 100% . EFCAB2 550 89% . EFCAB3 1616 91% . EFCAB4A 917 63% . EFCAB4B 2480 76% . EFCAB5 4860 97% . EFCAB6 4697 100% . EFCAB7 1942 100% . EFCAB9 610 100% . EFEMP1 1522 100% Doyne Honeycomb Retinal Dystrophy EFEMP1 1522 100% Choriodal Dystrophy, Central Areolar 2 EFEMP2 1372 88% FBLN4 (EFEMP2)-Related Cutis Laxa EFEMP2 1372 88% EFEMP2-Related Cutis Laxa EFHA1 1353 100% . EFHA2 1649 84% . EFHB 2554 100% . EFHC1 1977 100% Juvenile Myoclonic Epilepsy EFHC1 1977 100% EFHC1-Related Juvenile Myoclonic Epilepsy EFHC2 2310 99% . EFHD1 736 79% . EFHD2 739 90% . EFNA1 638 100% . EFNA2 658 75% . EFNA3 737 82% . EFNA4 980 90% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 175

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EFNA5 707 98% . EFNB1 1061 83% Craniofrontonasal Syndrome EFNB2 1022 100% . EFNB3 1043 95% . EFR3A 2558 99% . EFR3B 2546 86% . EFS 1710 99% . EFTUD1 3439 100% . EFTUD2 3027 100% . EGF 3720 100% Renal Hypomagnesemia 4 EGFL6 1822 100% . EGFL7 854 71% . EGFL8 914 100% . EGFLAM 3280 98% . EGFR 4098 100% Lung Cancer EGFR 4098 100% Lung Cancer, EGFR-Related EGLN1 1301 86% Familial Erythrocytosis 3 EGLN2 1244 100% . EGLN3 740 100% . EGR1 1640 100% . EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 1 EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 4 EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 4E EGR2 1612 100% Charcot-Marie-Tooth Neuropathy Type 1D EGR3 2186 100% . EGR4 1778 70% . EHBP1 3792 99% . EHBP1L1 4648 86% . EHD1 1625 99% . EHD2 1652 98% . EHD3 1632 100% . EHD4 1650 99% . EHF 1036 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 176

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EHHADH 2377 100% . EHMT1 4054 98% Kleefstra Syndrome EHMT2 3745 99% . EI24 1229 99% . EID1 568 100% . EID2 715 97% . EID2B 490 100% . EID3 1006 100% . EIF1 358 100% . EIF1AD 518 100% . EIF1AX 463 96% . EIF1AY 463 92% . EIF1B 358 100% . EIF2A 1814 100% . EIF2AK1 2018 100% . EIF2AK2 1716 100% . EIF2AK3 3419 96% Multiple Epiphyseal Dysplasia with Early-Onset Diabetes Mellitus EIF2AK4 5106 100% . EIF2B1 954 100% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B1 954 100% EIF2B1-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B1 954 100% Choriodal Dystrophy, Central Areolar 2 EIF2B2 1088 100% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B2 1088 100% EIF2B2-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B2 1088 100% Choriodal Dystrophy, Central Areolar 2 EIF2B3 1630 100% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B3 1630 100% EIF2B3-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B3 1630 100% Choriodal Dystrophy, Central Areolar 2 EIF2B4 2071 89% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B4 2071 89% EIF2B4-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B4 2071 89% Choriodal Dystrophy, Central Areolar 2 EIF2B5 2230 94% Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B5 2230 94% EIF2B5-Related Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter EIF2B5 2230 94% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 177

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EIF2C1 2650 100% . EIF2C2 2656 99% . EIF2C3 2798 100% . EIF2C4 2658 99% . EIF2D 1815 100% . EIF2S1 976 100% . EIF2S2 1038 100% . EIF2S3 1467 100% . EIF3A 4237 100% . EIF3B 2517 83% . EIF3C 5647 9% . EIF3CL 5647 9% . EIF3D 1703 100% . EIF3E 1390 100% . EIF3F 1106 100% . EIF3G 1007 100% . EIF3H 1091 100% . EIF3I 1022 100% . EIF3J 809 93% . EIF3K 689 100% . EIF3L 1747 100% . EIF3M 1169 100% . EIF4A1 1498 100% . EIF4A2 1268 100% . EIF4A3 1284 100% . EIF4B 1896 100% . EIF4E 861 78% . EIF4E1B 757 97% . EIF4E2 766 93% . EIF4E3 802 76% . EIF4EBP1 369 60% . EIF4EBP2 375 98% . EIF4EBP3 315 66% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 178

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EIF4ENIF1 3417 100% . EIF4G1 5540 99% . EIF4G2 2808 100% . EIF4G3 5192 97% . EIF4H 775 100% . EIF5 1336 100% . EIF5A 765 100% . EIF5A2 478 100% . EIF5AL1 469 100% . EIF5B 3759 100% . EIF6 1509 100% . ELAC1 1104 100% . ELAC2 2667 95% Prostate Cancer ELANE 824 95% Cyclic Neutropenia ELANE 824 95% ELANE-Related Neutropenia ELANE 824 95% Choriodal Dystrophy, Central Areolar 2 ELAVL1 1001 100% . ELAVL2 1104 100% . ELAVL3 1488 99% . ELAVL4 1644 99% . ELF1 2064 100% . ELF2 2054 100% . ELF3 1148 100% . ELF4 2024 100% . ELF5 955 100% . ELFN1 2491 71% . ELFN2 2467 97% . ELK1 1307 61% . ELK3 1240 100% . ELK4 2465 100% . ELL 1914 88% . ELL2 1971 100% . ELL3 1238 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 179

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ELMO1 2436 100% . ELMO2 2243 100% . ELMO3 2402 100% . ELMOD1 1049 100% . ELMOD2 914 100% . ELMOD3 1788 100% . ELN 2392 95% Williams Syndrome ELN 2392 95% Supravalvular Aortic Stenosis ELN 2392 95% ELN-Related Cutis Laxa ELN 2392 95% Choriodal Dystrophy, Central Areolar 2 ELOF1 264 100% . ELOVL1 953 100% . ELOVL2 923 100% . ELOVL3 829 100% . ELOVL4 969 100% Stargardt Disease 3 ELOVL4 969 100% Choriodal Dystrophy, Central Areolar 2 ELOVL5 1076 100% . ELOVL6 814 100% . ELOVL7 874 100% . ELP2 2569 100% . ELP3 1704 100% . ELP4 1315 100% . ELSPBP1 692 100% . ELTD1 2133 99% . EMB 1020 89% . EMCN 830 100% . EMD 789 94% EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked EMD 789 94% Emery-Dreifuss Muscular Dystrophy EMD 789 94% Choriodal Dystrophy, Central Areolar 2 EME1 1945 100% . EME2 1367 83% . EMG1 929 100% . EMID1 1392 77% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 180

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EMID2 1371 80% . EMILIN1 3083 84% . EMILIN2 3194 86% . EMILIN3 2317 93% . EML1 2597 97% . EML2 2679 74% . EML3 2779 99% . EML4 3038 100% . EML5 6106 97% . EML6 6041 99% . EMP1 490 100% . EMP2 520 100% . EMP3 508 100% . EMR1 2940 100% . EMR2 2780 100% . EMR3 2023 100% . EMX1 885 61% . EMX2 943 91% Familial Schizencephaly, EMX2-Related EN1 1187 71% . EN2 1010 49% . ENAH 1836 93% . ENAM 3461 100% Amelogenesis Imperfecta, Type IB ENAM 3461 100% Amelogenesis Imperfecta, Type IB (319274) ENAM 3461 100% Amelogenesis Imperfecta, Type IC ENC1 1774 100% . ENDOD1 1511 88% . ENDOG 906 42% . ENDOU 1273 86% . ENDOV 1136 97% . ENG 2204 85% Hereditary Hemorrhagic Telangiectasia ENG 2204 85% ENG-Related Hereditary Hemorrhagic Telangiectasia ENG 2204 85% ENG-Related Juvenile Polyposis ENG 2204 85% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 181

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ENGASE 2288 95% . ENHO 235 100% . ENKUR 795 100% . ENO1 1423 100% . ENO2 1349 100% . ENO3 1349 100% Glycogen Storage Disease XIII ENOPH1 810 100% . ENOSF1 1885 75% . ENOX1 1988 100% . ENOX2 2024 99% . ENPEP 2954 100% . ENPP1 2878 92% Arterial Calcification of Infancy ENPP1 2878 92% Hypophosphatemic Rickets, Autosomal Recessive 2 ENPP1 2878 92% Arterial Calcification, Generalized, of Infancy ENPP2 2931 99% . ENPP3 2728 100% . ENPP4 1374 100% . ENPP5 1446 100% . ENPP6 1355 100% . ENPP7 1397 100% . ENSA 1062 98% . ENTHD1 1848 100% . ENTPD1 2254 97% . ENTPD2 1663 70% . ENTPD3 1630 100% . ENTPD4 2058 100% . ENTPD5 1339 100% . ENTPD6 1518 96% . ENTPD7 1863 100% . ENTPD8 1524 97% . ENY2 407 100% . EOMES 2085 75% . EP300 7369 100% Rubinstein-Taybi Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 182

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EP300 7369 100% EP300-Related Rubinstein-Taybi Syndrome EP400 9577 96% . EPAS1 2677 97% Familial Erythrocytosis 4 EPB41 3111 100% . EPB41L1 2899 100% . EPB41L2 3658 100% . EPB41L3 3348 100% . EPB41L4A 2153 99% . EPB41L4B 2959 88% . EPB41L5 2554 100% . EPB42 2322 100% Spherocytosis, Type 5 EPB49 1369 98% . EPC1 2571 100% . EPC2 2480 100% . EPCAM 981 92% Lynch Syndrome EPCAM 981 92% EPCAM-Related Lynch Syndrome EPDR1 1248 99% . EPG5 7916 100% . EPGN 418 100% . EPHA1 3003 95% . EPHA10 3854 81% . EPHA2 2999 95% Cataract, Age-Related Cortical, 2 EPHA3 3239 100% . EPHA4 3029 100% . EPHA5 3186 97% . EPHA6 3749 100% . EPHA7 3065 100% . EPHA8 3772 96% . EPHB1 3019 100% . EPHB2 3100 98% . EPHB3 3061 96% . EPHB4 3032 92% . EPHB6 3130 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 183

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EPHX1 1400 100% . EPHX2 1744 98% . EPHX3 1111 89% . EPHX4 1117 99% . EPM2A 1328 78% Progressive Myoclonus Epilepsy, Lafora Type EPM2A 1328 78% EPM2A-Related Lafora Disease EPM2A 1328 78% Choriodal Dystrophy, Central Areolar 2 EPM2AIP1 1828 100% . EPN1 2536 88% . EPN2 2079 96% . EPN3 1935 97% . EPO 602 98% . EPOR 1559 82% Familial Erythrocytosis 1 EPPK1 7267 99% . EPRS 4667 100% . EPS15 3064 99% . EPS15L1 2687 98% . EPS8 2549 100% . EPS8L1 2300 76% . EPS8L2 2228 72% . EPS8L3 2207 98% . EPSTI1 1542 100% . EPT1 1346 100% . EPX 2196 100% . EPYC 993 100% . ERAL1 1354 100% . ERAP1 3091 100% . ERAP2 2955 100% . ERAS 706 82% . ERBB2 4032 98% . ERBB2IP 4386 100% . ERBB3 4594 99% . ERBB4 4039 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 184

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ERC1 3423 100% . ERC2 2928 100% . ERCC1 1261 95% Xeroderma Pigmentosum ERCC1 1261 95% ERCC1-Related Xeroderma Pigmentosum ERCC2 2536 91% Xeroderma Pigmentosum ERCC2 2536 91% ERCC2-Related Xeroderma Pigmentosum ERCC3 2409 100% Xeroderma Pigmentosum ERCC3 2409 100% ERCC3-Related Xeroderma Pigmentosum ERCC4 2795 100% Xeroderma Pigmentosum ERCC4 2795 100% ERCC4-Related Xeroderma Pigmentosum ERCC5 3621 100% Xeroderma Pigmentosum ERCC5 3621 100% ERCC5-Related Xeroderma Pigmentosum ERCC6 4562 100% Age-Related Macular Degeneration ERCC6 4562 100% Cockayne Syndrome ERCC6 4562 100% ERCC6-Related Cockayne Syndrome ERCC6 4562 100% Age-Related Macular Degeneration 5 ERCC6 4562 100% Choriodal Dystrophy, Central Areolar 2 ERCC6L 3761 99% . ERCC8 1239 100% Cockayne Syndrome ERCC8 1239 100% ERCC8-Related Cockayne Syndrome EREG 530 99% . ERF 1663 96% . ERG 1679 96% . ERGIC1 913 97% . ERGIC2 1186 100% . ERGIC3 1223 100% . ERH 331 100% . ERI1 1078 90% . ERI2 2502 99% . ERI3 1050 100% . ERICH1 1356 98% . ERLEC1 1508 100% . ERLIN1 1091 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 185

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ERLIN2 1103 100% . ERMAP 1468 100% . ERMN 1187 100% . ERMP1 2775 94% . ERN1 3022 97% . ERN2 3013 94% . ERO1L 1471 95% . ERO1LB 1468 93% . ERP27 850 100% . ERP29 1305 100% . ERP44 1269 100% . ERRFI1 1401 100% . ERV3-1 1819 84% . ERVFRD-1 1621 55% . ERVV-1 1438 0% . ERVV-2 1612 0% . ESAM 1201 100% . ESCO1 2559 100% . ESCO2 1846 100% Roberts Syndrome ESD 881 100% . ESF1 2608 100% . ESM1 567 100% . ESPL1 6483 99% . ESPN 2617 69% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ESPN 2617 69% DFNB36 Nonsyndromic Hearing Loss and Deafness ESPNL 3054 64% . ESR1 1820 93% . ESR2 1896 100% . ESRP1 2359 98% . ESRP2 2214 100% . ESRRA 1296 95% . ESRRB 1559 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ESRRB 1559 94% DFNB35 Nonsyndromic Hearing Loss and Deafness UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 186

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ESRRG 2278 100% . ESX1 1237 98% . ESYT1 3575 100% . ESYT2 2770 86% . ESYT3 2753 92% . ETAA1 2805 97% . ETF1 1354 100% . ETFA 1050 96% Multiple Acyl-CoA Dehydrogenase Deficiency ETFA 1050 96% Choriodal Dystrophy, Central Areolar 2 ETFB 1615 98% Multiple Acyl-CoA Dehydrogenase Deficiency ETFB 1615 98% Choriodal Dystrophy, Central Areolar 2 ETFDH 1906 100% Multiple Acyl-CoA Dehydrogenase Deficiency ETFDH 1906 100% Choriodal Dystrophy, Central Areolar 2 ETHE1 793 90% Ethylmalonic Encephalopathy ETNK1 1489 96% . ETNK2 1193 77% . ETS1 1580 100% . ETS2 1446 100% . ETV1 1547 100% . ETV2 1053 97% . ETV3 1739 100% . ETV3L 1106 95% . ETV4 1503 91% . ETV5 1581 100% . ETV6 1391 100% . ETV7 1631 87% . EVC 3063 88% Ellis-van Creveld Syndrome EVC 3063 88% EVC-Related Ellis-van Creveld Syndrome EVC 3063 88% Weyers Acrofacial Dysostosis EVC 3063 88% Choriodal Dystrophy, Central Areolar 2 EVC2 4074 93% Ellis-van Creveld Syndrome EVC2 4074 93% EVC2-Related Ellis-van Creveld Syndrome EVI2A 1513 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 187

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EVI2B 1351 100% . EVI5 2505 100% . EVI5L 2494 64% . EVL 1313 95% . EVPL 6190 96% . EVPLL 942 83% . EVX1 1236 91% . EVX2 1443 68% . EWSR1 2198 100% . EXD1 1585 100% . EXD2 2159 100% . EXD3 2715 87% . EXO1 2733 100% . EXOC1 2757 100% . EXOC2 2883 100% . EXOC3 2286 96% . EXOC3L1 2293 90% . EXOC3L2 1266 85% . EXOC3L4 2213 57% . EXOC4 3006 100% . EXOC5 2199 100% . EXOC6 2593 100% . EXOC6B 2524 100% . EXOC7 2445 91% . EXOC8 2182 100% . EXOG 1131 100% . EXOSC1 620 100% . EXOSC10 2758 100% . EXOSC2 918 100% . EXOSC3 1050 100% Pontocerebellar Hypoplasia, Type 1B EXOSC4 750 83% . EXOSC5 732 88% . EXOSC6 823 15% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 188

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) EXOSC7 908 95% . EXOSC8 875 98% . EXOSC9 1423 96% . EXPH5 5994 100% . EXT1 2285 100% Hereditary Multiple Osteochondromas EXT1 2285 100% Langer-Giedion Syndrome EXT1 2285 100% Hereditary Multiple Osteochondromatosis, Type I EXT1 2285 100% Choriodal Dystrophy, Central Areolar 2 EXT2 3115 98% Hereditary Multiple Osteochondromas EXT2 3115 98% Hereditary Multiple Osteochondromatosis, Type II EXT2 3115 98% Choriodal Dystrophy, Central Areolar 2 EXTL1 2075 92% . EXTL2 1009 100% . EXTL3 2780 100% . EYA1 2014 100% Branchiootorenal Spectrum Disorders EYA1 2014 100% EYA1-Related Branchiootorenal Spectrum Disorders EYA1 2014 100% Otofaciocervical Syndrome EYA1 2014 100% Choriodal Dystrophy, Central Areolar 2 EYA2 1677 97% . EYA3 1790 100% . EYA4 2101 100% Dilated Cardiomyopathy EYA4 2101 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant EYA4 2101 100% DFNA10 Nonsyndromic Hearing Loss and Deafness EYA4 2101 100% EYA4-Related Dilated Cardiomyopathy EYA4 2101 100% Choriodal Dystrophy, Central Areolar 2 EYS 9902 68% Retinitis Pigmentosa, Autosomal Recessive EYS 9902 68% Retinitis Pigmentosa EYS 9902 68% EYS-Related Retinitis Pigmentosa EZH1 2320 98% . EZH2 2648 100% Weaver Syndrome 2 EZR 1813 100% . F10 1499 100% Factor X Deficiency F11 1934 100% Factor XI Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 189

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) F11 1934 100% Choriodal Dystrophy, Central Areolar 2 F11R 940 100% . F12 1904 90% Factor XII Deficiency F12 1904 90% Hereditary Angioedema Type III F13A1 2255 100% Factor XIII Subunit A Deficiency F13B 2034 100% Factor XIII Subunit B Deficiency F2 1925 96% Prothrombin-Related Thrombophilia F2 1925 96% Prothrombin Deficiency F2 1925 96% Choriodal Dystrophy, Central Areolar 2 F2R 1286 96% . F2RL1 1202 96% . F2RL2 1133 100% . F2RL3 1166 88% . F3 1053 95% . F5 6775 100% Factor V Leiden Thrombophilia F5 6775 100% Factor V R2 Mutation Thrombophilia F5 6775 100% Factor V Cambridge Thrombophilia F5 6775 100% Factor V Deficiency F5 6775 100% Budd-Chiari Syndrome F5 6775 100% F5-Related Budd-Chiari Syndrome F5 6775 100% Choriodal Dystrophy, Central Areolar 2 F7 1437 84% Factor VII Deficiency F7 1437 84% Choriodal Dystrophy, Central Areolar 2 F8 7188 100% Hemophilia A F8 7188 100% Choriodal Dystrophy, Central Areolar 2 F8A1 3360 7% . F8A2 3360 7% . F8A3 3360 7% . F9 1418 100% Hemophilia B F9 1418 100% Choriodal Dystrophy, Central Areolar 2 FA2H 1147 75% Fatty Acid Hydroxylase-Associated Neurodegeneration FAAH 1800 84% . FAAH2 1643 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 190

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FABP1 400 100% . FABP12 439 100% . FABP2 415 100% . FABP3 418 100% . FABP4 415 100% . FABP5 424 84% . FABP6 641 100% . FABP7 415 100% . FABP9 415 100% . FADD 635 100% . FADS1 1554 83% . FADS2 1383 97% . FADS3 1386 79% . FADS6 1077 94% . FAF1 2029 96% . FAF2 1382 96% . FAH 1316 100% Tyrosinemia Type I FAH 1316 100% Choriodal Dystrophy, Central Areolar 2 FAHD1 1661 93% . FAHD2A 973 100% . FAHD2B 973 100% . FAIM 847 100% . FAIM2 999 98% . FAIM3 1338 83% . FAM100A 546 73% . FAM100B 507 62% . FAM101A 416 100% . FAM101B 444 100% . FAM102A 1250 78% . FAM102B 1127 100% . FAM103A1 365 100% . FAM104A 640 100% . FAM104B 1190 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 191

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM105A 1103 94% . FAM105B 1087 87% . FAM107A 447 100% . FAM107B 941 100% . FAM108A1 1106 100% . FAM108B1 1134 100% . FAM108C1 1002 73% . FAM109A 1587 73% . FAM109B 784 100% . FAM110A 892 80% . FAM110B 1117 100% . FAM110C 974 79% . FAM110D 820 17% . FAM111A 1844 100% . FAM111B 4341 100% . FAM113A 1393 99% . FAM113B 1303 99% . FAM114A1 1744 100% . FAM114A2 1570 100% . FAM115A 4052 35% . FAM115C 3515 60% . FAM116A 1907 97% . FAM116B 1838 86% . FAM117A 1394 88% . FAM117B 1802 66% . FAM118A 1106 100% . FAM118B 1084 100% . FAM120A 3749 94% . FAM120AOS 1014 88% . FAM120B 2769 98% . FAM120C 3377 90% . FAM122A 868 100% . FAM122B 1070 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 192

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM122C 1500 84% . FAM123A 6060 91% . FAM123B 3412 97% Osteopathia Striata with Cranial Sclerosis FAM123C 2590 99% . FAM124A 1769 89% . FAM124B 1467 94% . FAM125A 858 97% . FAM125B 1135 85% . FAM126A 1606 100% Hypomyelination and Congenital Cataract FAM126B 1633 100% . FAM127A 346 100% . FAM127B 756 100% . FAM127C 346 100% . FAM129A 2843 98% . FAM129B 2317 97% . FAM129C 2275 77% . FAM131A 1223 97% . FAM131B 1225 95% . FAM131C 871 72% . FAM132A 941 61% . FAM133A 751 100% . FAM133B 890 100% . FAM134A 1668 83% . FAM134B 1569 91% Hereditary Sensory and Autonomic Neuropathy Type IIB FAM134B 1569 91% Hereditary Sensory and Autonomic Neuropathy Type II FAM134C 1437 100% . FAM135A 7210 100% . FAM135B 4297 100% . FAM136A 429 100% . FAM13A 3201 100% . FAM13B 3119 100% . FAM13C 2227 100% . FAM149A 1493 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 193

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM149B1 1805 97% . FAM150A 406 52% . FAM150B 479 46% . FAM151A 1790 100% . FAM151B 855 97% . FAM153A 1009 85% . FAM153B 1248 94% . FAM154A 1441 100% . FAM154B 1209 97% . FAM155A 1389 100% . FAM155B 1431 79% . FAM156A 1292 0% . FAM156B 1292 0% . FAM157A 1176 18% . FAM157B 1179 2% . FAM158A 647 100% . FAM159A 585 100% . FAM159B 495 99% . FAM160A1 3167 38% . FAM160A2 3215 100% . FAM160B1 2395 98% . FAM160B2 2300 97% . FAM161A 2007 100% Retinitis Pigmentosa, Autosomal Recessive FAM161A 2007 100% Retinitis Pigmentosa FAM161A 2007 100% FAM161A-Related Retinitis Pigmentosa FAM161B 1980 100% . FAM162A 485 93% . FAM162B 505 67% . FAM163A 512 81% . FAM163B 509 27% . FAM164A 1014 98% . FAM164C 2758 100% . FAM165B 185 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 194

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM166A 982 100% . FAM166B 1051 98% . FAM167A 653 100% . FAM167B 500 81% . FAM168A 732 100% . FAM168B 608 82% . FAM169A 2061 100% . FAM169B 599 100% . FAM170A 1006 100% . FAM170B 860 91% . FAM171A1 2705 96% . FAM171A2 2513 45% . FAM171B 2513 100% . FAM172A 1397 100% . FAM173A 728 42% . FAM173B 722 100% . FAM174A 585 100% . FAM174B 492 68% . FAM175A 1266 100% . FAM175B 1284 100% . FAM176A 467 100% . FAM176B 506 75% . FAM177A1 900 84% . FAM177B 493 100% . FAM178A 3969 100% . FAM178B 2269 63% . FAM179A 3136 97% . FAM179B 5239 100% . FAM180A 534 100% . FAM180B 564 97% . FAM181A 2043 100% . FAM181B 1285 46% . FAM183A 421 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 195

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM184A 4354 97% . FAM184B 3255 80% . FAM185A 1666 100% . FAM186A 7088 10% . FAM186B 2710 100% . FAM187B 1118 97% . FAM188A 1398 100% . FAM188B 2346 97% . FAM189A1 1664 67% . FAM189A2 1393 100% . FAM189B 2055 81% . FAM18A 670 94% . FAM18B1 646 98% . FAM18B2 1009 97% . FAM18B2-CDRT4 482 98% . FAM190A 2771 74% . FAM190B 2545 100% . FAM192A 789 100% . FAM193A 3743 100% . FAM193B 2501 78% . FAM194A 2048 100% . FAM194B 2143 100% . FAM195A 503 44% . FAM195B 310 0% . FAM196A 1452 100% . FAM196B 1620 100% . FAM198A 1748 88% . FAM198B 1900 100% . FAM199X 1191 99% . FAM19A1 418 100% . FAM19A2 412 100% . FAM19A3 779 99% . FAM19A4 443 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 196

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM19A5 510 99% . FAM200A 1726 15% . FAM200B 1978 0% . FAM203A 2394 6% . FAM204A 730 100% . FAM205A 4024 96% . FAM206A 570 95% . FAM207A 717 66% . FAM208A 6204 79% . FAM208B 7365 100% . FAM209A 524 100% . FAM209B 524 100% . FAM20A 1859 94% . FAM20B 1258 100% . FAM20C 1795 34% . FAM210A 831 100% . FAM210B 591 68% . FAM211A 1599 81% . FAM211B 964 80% . FAM212A 872 93% . FAM212B 918 100% . FAM213A 388 100% . FAM213B 1279 72% . FAM214A 3279 100% . FAM214B 1645 92% . FAM21A 4150 69% . FAM21B 7756 51% . FAM21C 4083 71% . FAM22A 2665 58% . FAM22D 1702 57% . FAM22F 2299 93% . FAM22G 2297 98% . FAM24A 326 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 197

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM24B 293 100% . FAM25A 282 100% . FAM25B 846 33% . FAM25C 846 33% . FAM25G 846 33% . FAM26D 391 100% . FAM26E 938 100% . FAM26F 956 45% . FAM32A 355 82% . FAM35A 2536 100% . FAM36A 373 88% . FAM3A 729 69% . FAM3B 740 97% . FAM3C 720 100% . FAM3D 711 100% . FAM40A 2598 92% . FAM40B 2844 95% . FAM43A 1276 65% . FAM43B 994 36% . FAM45A 1110 95% . FAM46A 1337 100% . FAM46B 1286 93% . FAM46C 1180 100% . FAM46D 1174 100% . FAM47A 2380 100% . FAM47B 1942 100% . FAM47C 3112 100% . FAM47E 1327 70% . FAM47E-STBD1 1911 79% . FAM48A 2719 100% . FAM48B1 2668 91% . FAM48B2 2458 95% . FAM49A 1012 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 198

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM49B 1015 100% . FAM50A 1072 90% . FAM50B 982 100% . FAM53A 1213 77% . FAM53B 1285 97% . FAM53C 1195 100% . FAM54A 1186 100% . FAM54B 1229 100% . FAM55A 1234 100% . FAM55B 1704 100% . FAM55C 1700 100% . FAM55D 1721 100% . FAM57A 794 78% . FAM57B 845 85% . FAM58A 859 90% Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations FAM58BP 763 100% . FAM59A 3551 99% . FAM59B 4737 83% . FAM5B 2380 100% . FAM5C 2329 100% . FAM60A 686 100% . FAM63A 3232 98% . FAM63B 2035 100% . FAM64A 798 100% . FAM65A 4143 95% . FAM65B 3305 100% . FAM65C 2925 94% . FAM69A 1446 99% . FAM69B 1316 85% . FAM69C 1276 67% . FAM70A 1090 96% . FAM70B 1017 95% . FAM71A 1789 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 199

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM71B 1826 100% . FAM71C 734 100% . FAM71D 1293 100% . FAM71E1 712 93% . FAM71E2 2809 6% . FAM71F1 1063 100% . FAM71F2 1166 100% . FAM72A 466 96% . FAM72B 466 100% . FAM72D 466 79% . FAM73A 1963 97% . FAM73B 1842 94% . FAM75A1 8120 34% . FAM75A2 8120 34% . FAM75A3 4060 63% . FAM75A4 4060 11% . FAM75A5 12180 12% . FAM75A6 4048 87% . FAM75A7 12180 12% . FAM75C1 3583 95% . FAM75C2 3421 99% . FAM75D1 4747 100% . FAM75D3 2770 25% . FAM75D4 2770 22% . FAM76A 1066 82% . FAM76B 1060 98% . FAM78A 860 100% . FAM78B 794 97% . FAM81A 1139 100% . FAM81B 1399 100% . FAM82A1 2280 100% . FAM82A2 1461 100% . FAM82B 985 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 200

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM83A 1932 92% . FAM83B 3052 100% . FAM83C 2260 92% . FAM83D 1864 84% . FAM83E 1457 86% . FAM83F 1523 70% . FAM83G 2492 99% . FAM83H 3556 76% Amelogenesis Imperfecta, Type III FAM84A 883 94% . FAM84B 937 99% . FAM86A 1025 99% . FAM86B1 919 78% . FAM86B2 1025 52% . FAM86C1 603 89% . FAM89A 563 50% . FAM89B 1174 75% . FAM8A1 1262 86% . FAM90A1 1411 100% . FAM90A10 1411 65% . FAM90A13 4233 11% . FAM90A14 4233 11% . FAM90A18 2822 0% . FAM90A19 2822 0% . FAM90A20 1411 92% . FAM90A5 1411 13% . FAM90A7 2822 1% . FAM90A8 1411 6% . FAM90A9 1411 24% . FAM91A1 2613 100% . FAM92A1 902 97% . FAM92B 947 99% . FAM96A 553 100% . FAM96B 512 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 201

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FAM98A 1589 100% . FAM98B 1698 72% . FAM98C 1082 70% . FAM9A 1031 99% . FAM9B 589 100% . FAM9C 525 100% . FAN1 3362 100% . FANCA 4545 92% FANCA-Related Fanconi Anemia FANCA 4545 92% Fanconi Anemia FANCB 2612 100% FANCB-Related Fanconi Anemia FANCB 2612 100% Fanconi Anemia FANCB 2612 100% VACTERL with Hydrocephalus, FANCB-Related FANCC 1733 100% FANCC-Related Fanconi Anemia FANCC 1733 100% Fanconi Anemia FANCD2 4898 99% FANCD2-Related Fanconi Anemia FANCD2 4898 99% Fanconi Anemia FANCE 1651 85% FANCE-Related Fanconi Anemia FANCE 1651 85% Fanconi Anemia FANCF 1129 100% FANCF-Related Fanconi Anemia FANCF 1129 100% Fanconi Anemia FANCG 1925 100% FANCG-Related Fanconi Anemia FANCG 1925 100% Fanconi Anemia FANCI 4135 100% Fanconi Anemia FANCI 4135 100% FANCI-Related Fanconi Anemia FANCL 1287 100% Fanconi Anemia FANCL 1287 100% FANCL-Related Fanconi Anemia FANCM 6239 100% Fanconi Anemia FANCM 6239 100% FANCM-Related Fanconi Anemia FANK1 1082 99% . FAP 2387 100% . FAR1 1592 100% . FAR2 1592 100% . FARP1 3465 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 202

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FARP2 3269 100% . FARS2 1380 100% . FARSA 1579 92% . FARSB 1838 100% . FAS 1380 100% FAS-Related Autoimmune Lymphoproliferative Syndrome FAS 1380 100% Autoimmune Lymphoproliferative Syndrome FASLG 862 100% FASLG-Related Autoimmune Lymphoproliferative Syndrome FASLG 862 100% Autoimmune Lymphoproliferative Syndrome FASN 7704 82% . FASTK 1690 94% . FASTKD1 2600 100% . FASTKD2 2177 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) FASTKD3 2013 100% . FASTKD5 2299 100% . FAT1 13871 100% . FAT2 13142 100% . FAT3 13774 100% . FAT4 15014 100% . FATE1 572 81% . FAU 418 100% . FBF1 3514 98% . FBL 1002 98% . FBLIM1 1803 88% . FBLN1 2660 91% . FBLN2 3764 98% . FBLN5 1391 96% Age-Related Macular Degeneration FBLN5 1391 96% Age-Related Macular Degeneration 3 FBLN5 1391 96% FBLN5-Related Cutis Laxa FBLN5 1391 96% Choriodal Dystrophy, Central Areolar 2 FBLN7 1352 91% . FBN1 8876 100% Marfan Syndrome FBN1 8876 100% Thoracic Aortic Aneurysms and Aortic Dissections FBN1 8876 100% Acromicric Dysplasia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 203

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FBN1 8876 100% Ectopia Lentis, Isolated FBN1 8876 100% MASS Syndrome FBN1 8876 100% FBN1-Related Weill-Marchesani Syndrome FBN1 8876 100% FBN1-Related Thoracic Aortic Aneurysms and Aortic Dissections FBN1 8876 100% Stiff Skin Syndrome FBN1 8876 100% Geleophysic Dysplasia 2 FBN1 8876 100% Geleophysic Dysplasia FBN1 8876 100% Choriodal Dystrophy, Central Areolar 2 FBN2 8999 100% Congenital Contractural Arachnodactyly FBN2 8999 100% Choriodal Dystrophy, Central Areolar 2 FBN3 8682 93% . FBP1 1045 96% Fructose 1,6 Bisphosphatase Deficiency FBP1 1045 96% Choriodal Dystrophy, Central Areolar 2 FBP2 1048 100% . FBRS 1427 94% . FBRSL1 3206 11% . FBXL12 993 85% . FBXL13 2280 100% . FBXL14 1265 98% . FBXL15 919 62% . FBXL16 1460 74% . FBXL17 2142 53% . FBXL18 2177 94% . FBXL19 2129 90% . FBXL2 1511 100% . FBXL20 1371 100% . FBXL21 1321 100% . FBXL22 752 97% . FBXL3 1303 100% . FBXL4 1894 100% . FBXL5 2527 97% . FBXL6 1724 96% . FBXL7 1492 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 204

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FBXL8 1133 63% . FBXO10 2911 100% . FBXO11 3008 93% . FBXO15 1682 86% . FBXO16 911 100% . FBXO17 1258 48% . FBXO18 3378 100% . FBXO2 915 64% . FBXO21 2151 98% . FBXO22 1484 91% . FBXO24 2097 87% . FBXO25 1252 100% . FBXO27 872 86% . FBXO28 1526 92% . FBXO3 1673 99% . FBXO30 2246 100% . FBXO31 1656 79% . FBXO32 1202 100% . FBXO33 1684 86% . FBXO34 2140 100% . FBXO36 583 100% . FBXO38 4390 100% . FBXO39 1341 100% . FBXO4 1424 86% . FBXO40 2142 100% . FBXO41 2676 70% . FBXO42 2190 100% . FBXO43 2147 100% . FBXO44 1131 100% . FBXO45 873 87% . FBXO46 1816 96% . FBXO47 1399 100% . FBXO48 476 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 205

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FBXO5 2083 95% . FBXO6 902 100% . FBXO7 1945 94% . FBXO8 980 100% . FBXO9 1686 100% . FBXW10 3212 100% . FBXW11 1744 99% . FBXW12 1472 100% . FBXW2 1389 100% . FBXW4 1275 85% Ectrodactyly FBXW4 1275 85% Split-Hand/Foot Malformation 3 FBXW5 1733 82% . FBXW7 2584 100% . FBXW8 2163 70% . FBXW9 1417 90% . FCAMR 1931 100% . FCAR 2263 100% . FCER1A 794 100% . FCER1G 281 100% . FCER2 1006 92% . FCF1 629 100% . FCGBP 16362 76% . FCGR1A 1149 98% . FCGR1B 863 93% . FCGR2A 1244 100% . FCGR2B 1227 83% . FCGR2C 1000 84% . FCGR3A 1307 100% . FCGR3B 766 100% . FCGRT 1122 92% . FCHO1 2908 95% . FCHO2 2537 97% . FCHSD1 2153 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 206

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FCHSD2 2303 100% . FCN1 1017 100% . FCN2 974 99% . FCN3 932 97% . FCRL1 1512 100% . FCRL2 1575 100% . FCRL3 2261 100% . FCRL4 1596 100% . FCRL5 3315 98% . FCRL6 1345 100% . FCRLA 1173 100% . FCRLB 1305 90% . FDCSP 270 100% . FDFT1 1286 99% . FDPS 1552 99% . FDX1 571 67% . FDX1L 572 93% . FDXACB1 1895 100% . FDXR 1672 95% . FECH 1483 95% Erythropoietic Protoporphyria FECH 1483 95% Choriodal Dystrophy, Central Areolar 2 FEM1A 2014 82% . FEM1B 1892 100% . FEM1C 1862 100% . FEN1 1147 100% . FER 2541 100% . FER1L5 6490 46% . FER1L6 5734 100% . FERD3L 505 100% . FERMT1 2090 100% Kindler Syndrome FERMT2 2294 100% . FERMT3 2201 94% . FES 2541 92% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 207

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FETUB 1177 100% . FEV 729 66% . FEZ1 1538 100% . FEZ2 1179 77% . FEZF1 3054 99% . FEZF2 1396 94% . FFAR1 907 58% . FFAR2 997 100% . FFAR3 1045 100% . FGA 4098 99% Congenital Afibrinogenemia FGA 4098 99% Familial Visceral Amyloidosis FGA 4098 99% FGA-Related Congenital Afibrinogenemia FGA 4098 99% FGA-Related Familial Visceral Amyloidosis FGB 1892 99% Congenital Afibrinogenemia FGB 1892 99% FGB-Related Congenital Afibrinogenemia FGD1 2958 77% Aarskog Syndrome FGD1 2958 77% FGD1-Related X-Linked Mental Retardation FGD2 2032 93% . FGD3 2242 100% . FGD4 2361 100% Charcot-Marie-Tooth Neuropathy Type 4 FGD4 2361 100% Charcot-Marie-Tooth Neuropathy Type 4H FGD5 4469 92% . FGD6 4377 100% . FGF1 878 100% . FGF10 639 100% Lacrimo-Auriculo-Dento-Digital Syndrome FGF10 639 100% FGF10-Related Lacrimo-Auriculo-Dento-Digital Syndrome FGF10 639 100% Aplasia of Lacrimal and Salivary Glands FGF11 698 86% . FGF12 769 100% . FGF13 1187 100% . FGF14 976 100% Spinocerebellar Ataxia Type27 FGF16 359 100% . FGF17 671 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 208

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FGF18 644 99% . FGF19 663 64% . FGF2 879 64% . FGF20 648 61% . FGF21 642 100% . FGF22 525 58% . FGF23 768 100% Hypophosphatemic Rickets, Autosomal Dominant FGF23 768 100% Hyperphosphatemic Familial Tumoral Calcinosis, FGF23-Related FGF23 768 100% Choriodal Dystrophy, Central Areolar 2 FGF3 732 69% Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia FGF4 633 52% . FGF5 1171 100% . FGF6 639 100% . FGF7 597 100% . FGF8 1129 83% Kallmann Syndrome FGF8 1129 83% Kallmann Syndrome 6 FGF9 639 100% . FGFBP1 709 100% . FGFBP2 676 100% . FGFBP3 781 56% . FGFR1 3195 99% FGFR1-Related Craniosynostosis FGFR1 3195 99% FGFR-Related Craniosynostosis FGFR1 3195 99% Kallmann Syndrome 2 FGFR1 3195 99% Kallmann Syndrome FGFR1 3195 99% Osteoglophonic Dysplasia FGFR1 3195 99% Pfeiffer Syndrome Type 1 FGFR1 3195 99% Trigonocephaly, Nonsyndromic FGFR1 3195 99% Choriodal Dystrophy, Central Areolar 2 FGFR1OP 1252 92% . FGFR1OP2 922 100% . FGFR2 2997 98% Crouzon Syndrome FGFR2 2997 98% Jackson-Weiss Syndrome FGFR2 2997 98% FGFR2-Related Craniosynostosis UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 209

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FGFR2 2997 98% Beare-Stevenson Syndrome FGFR2 2997 98% FGFR2-Related Isolated Coronal Synostosis FGFR2 2997 98% FGFR-Related Craniosynostosis FGFR2 2997 98% Lacrimo-Auriculo-Dento-Digital Syndrome FGFR2 2997 98% Pfeiffer Syndrome Type 1, 2 and 3 FGFR2 2997 98% Apert Syndrome FGFR2 2997 98% FGFR2-Related Lacrimo-Auriculo-Dento-Digital Syndrome FGFR2 2997 98% Saethre-Chotzen Syndrome, FGFR2-Related FGFR2 2997 98% Choriodal Dystrophy, Central Areolar 2 FGFR3 2644 81% Achondroplasia FGFR3 2644 81% Hypochondroplasia FGFR3 2644 81% Crouzon Syndrome with Acanthosis Nigricans FGFR3 2644 81% Thanatophoric Dysplasia Type I FGFR3 2644 81% Thanatophoric Dysplasia Type II FGFR3 2644 81% FGFR3-Related Craniosynostosis FGFR3 2644 81% FGFR-Related Craniosynostosis FGFR3 2644 81% Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) FGFR3 2644 81% Thanatophoric Dysplasia FGFR3 2644 81% Lacrimo-Auriculo-Dento-Digital Syndrome FGFR3 2644 81% Muenke Syndrome FGFR3 2644 81% FGFR3-Related Isolated Coronal Synostosis FGFR3 2644 81% FGFR3-Related Lacrimo-Auriculo-Dento-Digital Syndrome FGFR3 2644 81% Camptodactyly, Tall Stature, and Hearing Loss Syndrome FGFR3 2644 81% Choriodal Dystrophy, Central Areolar 2 FGFR4 3383 99% . FGFRL1 1539 86% . FGG 1654 100% Congenital Afibrinogenemia FGG 1654 100% FGG-Related Congenital Afibrinogenemia FGGY 1792 100% . FGL1 967 100% . FGL2 1328 100% . FGR 1634 99% . FH 1573 91% Fumarate Hydratase Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 210

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FH 1573 91% Hereditary Leiomyomatosis and Renal Cell Cancer FH 1573 91% Multiple Cutaneous and Uterine Leiomyomas FH 1573 91% Choriodal Dystrophy, Central Areolar 2 FHAD1 4359 98% . FHDC1 3476 99% . FHIT 464 100% . FHL1 1529 96% Emery-Dreifuss Muscular Dystrophy FHL1 1529 96% Myofibrillar Myopathy FHL1 1529 96% FHL1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked FHL1 1529 96% Myopathy with Postural Muscle Atrophy, X-Linked FHL1 1529 96% Scapuloperoneal Myopathy, X-Linked Dominant FHL1 1529 96% Early-Onset Severe Reducing Body Myopathy, X-Linked FHL1 1529 96% Childhood-Onset Reducing Body Myopathy, X-Linked FHL1 1529 96% FHL1-Related Myofibrillar Myopathy FHL2 860 100% . FHL3 1042 100% . FHL5 875 100% . FHOD1 3583 99% . FHOD3 4420 97% . FIBCD1 1414 72% . FIBIN 640 100% . FIBP 1294 93% . FICD 1385 100% . FIG4 2816 98% Charcot-Marie-Tooth Neuropathy Type 4 FIG4 2816 98% Amyotrophic Lateral Sclerosis FIG4 2816 98% Charcot-Marie-Tooth Neuropathy Type 4J FIG4 2816 98% FIG4-Related Amyotrophic Lateral Sclerosis FIGF 1093 100% . FIGLA 680 66% . FIGN 2288 100% . FIGNL1 2029 100% . FIGNL2 1966 41% . FILIP1 3662 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 211

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FILIP1L 9051 100% . FIP1L1 1888 96% . FIS1 479 100% . FITM1 887 99% . FITM2 797 96% . FIZ1 1499 56% . FJX1 1318 51% . FKBP10 1789 95% FKBP10-Related Osteogenesis Imperfecta FKBP11 725 89% . FKBP14 652 100% . FKBP15 3772 100% . FKBP1A 476 80% . FKBP1B 566 93% . FKBP2 449 100% . FKBP3 703 100% . FKBP4 1420 99% . FKBP5 1618 100% . FKBP6 1062 100% . FKBP7 823 100% . FKBP8 1274 98% . FKBP9 1753 95% . FKBPL 1054 100% . FKRP 1492 48% Limb-Girdle Muscular Dystrophies, Autosomal Recessive FKRP 1492 48% Congenital Muscular Dystrophy FKRP 1492 48% FKRP-Related Muscle Diseases FKRP 1492 48% FKRP-Related Walker-Warburg Syndrome FKRP 1492 48% Choriodal Dystrophy, Central Areolar 2 FKTN 1667 98% Fukuyama Congenital Muscular Dystrophy FKTN 1667 98% Dilated Cardiomyopathy FKTN 1667 98% Congenital Muscular Dystrophy FKTN 1667 98% FKTN-Related Muscle Diseases FKTN 1667 98% FKTN-Related Dilated Cardiomyopathy FLAD1 3283 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 212

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FLCN 2196 100% Spontaneous Pneumothorax FLCN 2196 100% Birt-Hogg-Dube Syndrome FLG 12194 99% Ichthyosis Vulgaris FLG2 7184 100% . FLI1 1611 100% . FLII 4071 96% . FLJ22184 4060 6% . FLJ23152 851 0% . FLJ25363 308 4% . FLJ27352 374 29% . FLJ43860 4077 83% . FLJ44635 431 100% . FLNA 8132 99% Otopalatodigital Syndrome, Type I FLNA 8132 99% Periventricular Heterotopia, X-Linked FLNA 8132 99% FLNA-Related Disorders FLNA 8132 99% Otopalatodigital Syndrome, Type II FLNA 8132 99% Otopalatodigital Spectrum Disorders FLNA 8132 99% FLNA-Related X-linked Cardiac Valvular Dysplasia FLNA 8132 99% Periventricular Heterotopia, Ehlers-Danlos Variant FLNA 8132 99% FG Syndrome 2 FLNA 8132 99% Chronic Idiopathic Neuronal Intestinal Pseudoobstruction, X-Linked FLNA 8132 99% Choriodal Dystrophy, Central Areolar 2 FLNB 8166 99% Atelosteogenesis Type I FLNB 8166 99% Atelosteogenesis Type III FLNB 8166 99% Larsen Syndrome FLNB 8166 99% Spondylocarpotarsal Synostosis Syndrome FLNB 8166 99% Boomerang Dysplasia FLNB 8166 99% FLNB-Related Disorders FLNC 8370 98% Myofibrillar Myopathy FLNC 8370 98% Filaminopathy FLNC 8370 98% Distal Myopathy 4 FLOT1 1332 100% . FLOT2 1331 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 213

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FLRT1 2029 100% . FLRT2 1987 100% . FLRT3 1954 100% . FLT1 4809 96% . FLT3 3078 98% . FLT3LG 736 91% . FLT4 4220 97% Milroy Disease FLT4 4220 97% Choriodal Dystrophy, Central Areolar 2 FLVCR1 1708 88% . FLVCR2 1679 97% Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome FLYWCH1 2253 92% . FLYWCH2 431 100% . FMN1 3659 98% . FMN2 5241 91% . FMNL1 3407 80% . FMNL2 3383 100% . FMNL3 3188 97% . FMO1 1631 100% . FMO2 1448 100% . FMO3 1631 100% Trimethylaminuria FMO3 1631 100% Choriodal Dystrophy, Central Areolar 2 FMO4 1709 100% . FMO5 1854 92% . FMOD 1139 100% . FMR1 2320 98% FMR1-Related Disorders FMR1 2320 98% Fragile X-Associated Tremor/Ataxia Syndrome FMR1 2320 98% Fragile X Syndrome FMR1 2320 98% Choriodal Dystrophy, Central Areolar 2 FMR1NB 788 100% . FN1 9223 100% . FN3K 954 85% . FN3KRP 954 99% . FNBP1 1922 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 214

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FNBP1L 2089 99% . FNBP4 3122 93% . FNDC1 5777 95% . FNDC3A 3708 100% . FNDC3B 3715 100% . FNDC4 729 100% . FNDC5 887 100% . FNDC7 2250 96% . FNDC8 991 100% . FNDC9 679 100% . FNIP1 3573 99% . FNIP2 3413 97% . FNTA 1176 86% . FNTB 1362 100% . FOLH1 2509 97% . FOLH1B 1377 100% . FOLR1 790 100% Neurodegeneration due to Cerebral Folate Transport Deficiency FOLR2 784 100% . FOLR3 752 100% . FOLR4 769 100% . FOPNL 545 100% . FOS 1159 100% . FOSB 1033 92% . FOSL1 832 87% . FOSL2 997 96% . FOXA1 1427 87% . FOXA2 1491 93% . FOXA3 1061 93% . FOXB1 982 96% . FOXB2 1303 83% . FOXC1 1666 62% Axenfeld-Rieger Syndrome FOXC1 1666 62% Peters Anomaly FOXC1 1666 62% Iridogoniodysgenesis, Type 1 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 215

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FOXC1 1666 62% Choriodal Dystrophy, Central Areolar 2 FOXC2 1510 73% Lymphedema-Distichiasis Syndrome FOXC2 1510 73% Choriodal Dystrophy, Central Areolar 2 FOXD1 1400 37% . FOXD2 1492 43% . FOXD3 1441 56% . FOXD4 1324 100% . FOXD4L1 1231 98% . FOXD4L2 2510 0% . FOXD4L3 1258 85% . FOXD4L4 2510 0% . FOXD4L5 1255 86% . FOXD4L6 1258 61% . FOXE1 1126 65% Cleft Lip +/- Cleft Palate FOXE1 1126 65% Bamforth-Lazarus Syndrome FOXE1 1126 65% Athyroidal Hypothyroidism with Spiky Hair and Cleft Palate FOXE1 1126 65% Choriodal Dystrophy, Central Areolar 2 FOXE3 964 49% Cataracts, Autosomal Dominant FOXE3 964 49% Peters Anomaly with Cataract FOXE3 964 49% Anterior Segment Mesenchymal Dysgenesis FOXE3 964 49% Congenital Primary Aphakia FOXE3 964 49% FOXE3-Related Anterior Segment Mesenchymal Dysgenesis FOXE3 964 49% FOXE3-Related Cataracts, Autosomal Dominant FOXF1 1148 90% Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins FOXF2 1343 71% . FOXG1 1474 81% Rett Syndrome, Congenital Variant FOXH1 1110 83% Holoprosencephaly FOXH1 1110 83% FOXH1-Related Holoprosencephaly FOXI1 1712 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive FOXI1 1712 100% FOXI1-Related Pendred Syndrome FOXI1 1712 100% Pendred Syndrome/DFNB4 FOXI2 965 73% . FOXI3 1270 59% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 216

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FOXJ1 1274 74% . FOXJ2 1765 100% . FOXJ3 1917 100% . FOXK1 2238 79% . FOXK2 2019 93% . FOXL1 1042 81% . FOXL2 1135 74% Blepharophimosis, Ptosis, and Epicanthus Inversus FOXL2 1135 74% Choriodal Dystrophy, Central Areolar 2 FOXM1 2672 100% . FOXN1 1979 100% Alopecia and T-Cell Immunodeficiency FOXN2 1316 100% . FOXN3 1497 100% . FOXN4 1590 78% . FOXO1 1976 78% . FOXO3 2030 90% . FOXO4 2444 94% . FOXP1 2493 100% Mental Retardation with Language Impairment and Autistic Features FOXP2 2682 100% Speech-Language Disorder 1 FOXP3 1340 64% IPEX Syndrome FOXP4 2628 91% . FOXQ1 1216 50% . FOXR1 903 93% . FOXR2 940 100% . FOXRED1 1505 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) FOXRED2 2087 96% . FOXS1 997 100% . FPGS 1957 85% . FPGT 6139 100% . FPGT-TNNI3K 3031 100% . FPR1 1057 100% . FPR2 1060 100% . FPR3 1066 100% . FRA10AC1 1000 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 217

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FRAS1 12680 100% FRAS1-Related Fraser Syndrome FRAT1 844 33% . FRAT2 706 31% . FREM1 7203 100% Manitoba Oculotrichoanal Syndrome FREM2 9606 99% FREM2-Related Fraser Syndrome FREM3 6452 96% . FRG1 813 100% . FRG2 853 10% . FRG2B 853 95% . FRG2C 865 0% . FRK 1550 100% . FRMD1 1707 90% . FRMD3 2453 100% . FRMD4A 3212 92% . FRMD4B 3197 100% . FRMD5 1769 95% . FRMD6 1897 100% . FRMD7 2193 100% FRMD7-Related Infantile Nystagmus FRMD8 1435 79% . FRMPD1 4797 100% . FRMPD2 4136 98% . FRMPD4 4037 99% . FRRS1 1941 100% . FRS2 1547 100% . FRS3 1499 92% . FRY 9286 100% . FRYL 9286 100% . FRZB 1002 99% . FSCB 2482 98% . FSCN1 1502 96% . FSCN2 1815 81% Retinitis Pigmentosa, Autosomal Dominant FSCN2 1815 81% Retinitis Pigmentosa FSCN2 1815 81% FSCN2-Related Retinitis Pigmentosa UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 218

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FSCN3 1521 100% . FSD1 1543 99% . FSD1L 1941 99% . FSD2 2298 99% . FSHB 398 100% Isolated Follicle Stimulating Hormone Deficiency FSHB 398 100% Isolated Follicle-Stimulating Hormone Deficiency FSHB 398 100% Choriodal Dystrophy, Central Areolar 2 FSHR 2128 100% Ovarian Dysgenesis 1 FSHR 2128 100% Ovarian Hyperstimulation Syndrome FSIP1 1790 100% . FSIP2 21083 98% . FST 1065 92% . FSTL1 967 98% . FSTL3 812 57% . FSTL4 2589 99% . FSTL5 2642 100% . FTCD 1682 67% Formiminotransferase Deficiency FTH1 568 100% . FTHL17 556 100% . FTL 544 100% Hyperferritinemia Cataract Syndrome FTL 544 100% Neuroferritinopathy FTL 544 100% Choriodal Dystrophy, Central Areolar 2 FTMT 733 100% . FTO 1554 97% Growth Retardation, Developmental Delay, Coarse Facies, and Early Death FTSJ1 1142 96% X-Linked Mental Retardation 9 FTSJ2 753 99% . FTSJ3 2624 100% . FTSJD1 2317 100% . FTSJD2 2600 100% . FUBP1 2015 100% . FUBP3 1795 96% . FUCA1 1433 91% Fucosidosis FUCA1 1433 91% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 219

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FUCA2 1432 98% . FUK 3347 81% . FUNDC1 488 93% . FUNDC2 590 96% . FURIN 2445 90% . FUS 1982 99% Amyotrophic Lateral Sclerosis FUS 1982 99% FUS-Related Amyotrophic Lateral Sclerosis FUT1 1102 100% . FUT10 1456 100% . FUT11 1491 91% . FUT2 1036 100% . FUT3 1090 100% . FUT4 1597 79% . FUT5 1129 100% . FUT6 1084 100% . FUT7 1037 70% . FUT8 1883 100% . FUT9 1084 100% . FUZ 1427 68% . FXC1 324 100% . FXN 964 79% Friedreich Ataxia FXN 964 79% Choriodal Dystrophy, Central Areolar 2 FXR1 2185 100% . FXR2 2090 98% . FXYD1 303 100% . FXYD2 956 38% Hypomagnesemia 2, Renal FXYD3 1407 93% . FXYD4 298 100% . FXYD5 569 100% . FXYD6 312 83% Schizophrenia FXYD6-FXYD2 1257 51% . FXYD7 267 87% . FYB 3701 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 220

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) FYCO1 4505 100% Cataract, Autosomal Recessive Congenital 2 FYN 1818 100% . FYTTD1 1022 100% . FZD1 1948 92% . FZD10 1750 100% . FZD2 1702 100% . FZD3 2025 100% . FZD4 1622 100% Familial Exudative Vitreoretinopathy, Autosomal Dominant FZD4 1622 100% Familial Exudative Vitreoretinopathy FZD4 1622 100% FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant FZD5 1762 98% . FZD6 2326 100% . FZD7 1729 100% . FZD8 2089 81% . FZD9 1780 91% . FZR1 1649 84% . G0S2 316 82% . G2E3 2177 100% . G3BP1 1445 100% . G3BP2 1493 100% . G6PC 1094 100% Glycogen Storage Disease Type Ia G6PC 1094 100% Glycogen Storage Disease Type I G6PC 1094 100% Choriodal Dystrophy, Central Areolar 2 G6PC2 1604 100% . G6PC3 1065 97% Severe Congenital Neutropenia, Autosomal Recessive, 4 G6PD 1822 95% Glucose-6-Phosphate Dehydrogenase Deficiency G6PD 1822 95% Choriodal Dystrophy, Central Areolar 2 GAA 2935 97% Glycogen Storage Disease Type II (Pompe Disease) GAA 2935 97% Choriodal Dystrophy, Central Areolar 2 GAB1 2219 98% . GAB2 2376 100% . GAB3 2028 96% . GAB4 1765 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 221

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GABARAP 370 100% . GABARAPL1 370 89% . GABARAPL2 370 100% . GABBR1 3429 87% . GABBR2 2902 92% . GABPA 1401 100% . GABPB1 1588 100% . GABPB2 1379 100% . GABRA1 1407 100% Juvenile Myoclonic Epilepsy GABRA1 1407 100% GABRA1-Related Juvenile Myoclonic Epilepsy GABRA2 1392 100% . GABRA3 1515 100% . GABRA4 1791 100% . GABRA5 1425 100% . GABRA6 1398 100% . GABRB1 1461 100% . GABRB2 1579 100% . GABRB3 1798 93% Epilepsy, Childhood Absence, Susceptibility to, 5 GABRD 1395 87% Juvenile Myoclonic Epilepsy GABRD 1395 87% GABRD-Related Generalized Epilepsy with Febrile Seizures Plus GABRD 1395 87% GABRD-Related Juvenile Myoclonic Epilepsy GABRE 1557 97% . GABRG1 1434 100% . GABRG2 1592 92% GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus GABRG2 1592 92% Epilepsy, Childhood Absence, Susceptibility to, 2 GABRG2 1592 92% GABRG2-Related Dravet Syndrome GABRG3 1444 96% . GABRP 1359 100% . GABRQ 1935 100% . GABRR1 1480 100% . GABRR2 1509 100% . GABRR3 1440 100% . GAD1 1890 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 222

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GAD2 1822 100% . GADD45A 632 100% . GADD45B 499 100% . GADD45G 496 85% . GADD45GIP1 677 85% . GADL1 1626 99% . GAGE1 463 53% . GAGE10 367 100% . GAGE12B 1113 8% . GAGE12C 2223 12% . GAGE12D 2223 12% . GAGE12E 2223 12% . GAGE12F 1110 28% . GAGE12G 1853 11% . GAGE12H 1483 10% . GAGE12I 1110 21% . GAGE12J 370 24% . GAGE13 370 42% . GAGE2A 1471 36% . GAGE2B 367 44% . GAGE2C 1471 45% . GAGE2D 1104 45% . GAGE2E 1477 41% . GAGE4 370 31% . GAGE5 370 31% . GAGE6 740 16% . GAGE7 370 31% . GAGE8 1477 41% . GAK 4048 96% . GAL 392 95% . GAL3ST1 1280 100% . GAL3ST2 1213 74% . GAL3ST3 1304 68% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 223

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GAL3ST4 1473 93% . GALC 2189 94% Krabbe Disease GALC 2189 94% Choriodal Dystrophy, Central Areolar 2 GALE 1087 99% Epimerase Deficiency Galactosemia GALE 1087 99% Choriodal Dystrophy, Central Areolar 2 GALK1 1211 82% Galactokinase Deficiency GALK1 1211 82% Choriodal Dystrophy, Central Areolar 2 GALK2 1441 98% . GALM 1057 100% . GALNS 1625 78% Mucopolysaccharidosis Type IVA GALNS 1625 78% Choriodal Dystrophy, Central Areolar 2 GALNT1 1724 100% . GALNT10 1860 91% . GALNT11 1871 100% . GALNT12 1786 78% . GALNT13 1715 100% . GALNT14 1719 100% . GALNT2 1780 93% . GALNT3 1942 100% Hyperphosphatemic Familial Tumoral Calcinosis, GALNT3-Related GALNT4 1741 100% . GALNT5 2863 100% . GALNT6 1909 100% . GALNT7 2022 100% . GALNT8 1958 100% . GALNT9 2046 77% . GALNTL1 1737 99% . GALNTL2 1960 100% . GALNTL4 1868 99% . GALNTL5 1364 100% . GALNTL6 1854 100% . GALP 456 100% . GALR1 1062 96% . GALR2 1172 88% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 224

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GALR3 1115 65% . GALT 1184 100% Galactosemia GALT 1184 100% Choriodal Dystrophy, Central Areolar 2 GAMT 1330 68% Guanidinoacetate Methyltransferase Deficiency GAMT 1330 68% Creatine Deficiency Syndromes GAMT 1330 68% Choriodal Dystrophy, Central Areolar 2 GAN 1838 97% Giant Axonal Neuropathy GAN 1838 97% Choriodal Dystrophy, Central Areolar 2 GANAB 3001 100% . GANC 2841 100% . GAP43 871 100% . GAPDH 1040 100% . GAPDHS 1271 100% . GAPT 478 100% . GAPVD1 4568 100% . GAR1 678 100% . GARNL3 3154 100% . GARS 2288 95% Charcot-Marie-Tooth Neuropathy Type 2 GARS 2288 95% GARS-Associated Axonal Neuropathy GARS 2288 95% Charcot-Marie-Tooth Neuropathy Type 2D GARS 2288 95% Distal Spinal Muscular Atrophy V GART 3361 100% . GAS1 1042 42% . GAS2 970 100% . GAS2L1 2249 88% . GAS2L2 2667 100% . GAS2L3 2117 100% . GAS6 2346 80% . GAS7 1779 100% . GAS8 1481 96% . GAST 314 100% . GATA1 1262 92% GATA1-Related Cytopenia GATA2 1593 83% Acute Myeloid Leukemia, Susceptibility, GATA2-Related UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 225

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GATA2 1593 83% Myelodysplastic Syndrome, Susceptibility, GATA2-Related GATA2 1593 83% Lymphedema, Primary, with Myelodysplasia GATA3 1505 88% Hypoparathyroidism, Sensorineural Deafness, and Renal Disease GATA4 1353 61% Isolated Nonsyndromic Congenital Heart Disease/Defects GATA5 1218 46% . GATA6 1812 63% Pancreatic Agenesis and Congenital Heart Defects GATAD1 830 70% . GATAD2A 1946 100% . GATAD2B 1822 100% . GATC 427 100% . GATM 1308 94% L-Arginine:Glycine Amidinotransferase Deficiency GATM 1308 94% Creatine Deficiency Syndromes GATS 508 100% . GATSL1 1026 0% . GATSL2 1026 7% . GATSL3 1026 84% . GBA 1851 100% Gaucher Disease GBA 1851 100% Choriodal Dystrophy, Central Areolar 2 GBA2 2852 100% . GBA3 1430 100% . GBAS 901 89% . GBE1 2173 100% Glycogen Storage Disease Type IV GBE1 2173 100% Adult Polyglucosan Body Disease GBE1 2173 100% GBE1-Related Disorders GBE1 2173 100% Choriodal Dystrophy, Central Areolar 2 GBF1 6122 100% . GBGT1 1068 98% . GBP1 1819 100% . GBP2 1816 100% . GBP3 1828 100% . GBP4 1967 100% . GBP5 1801 100% . GBP6 1942 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 226

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GBP7 1957 100% . GBX1 1100 75% . GBX2 1055 96% . GC 1535 100% . GCA 686 100% . GCAT 1587 88% . GCC1 2336 100% . GCC2 5147 100% . GCDH 1409 100% Glutaricacidemia Type 1 GCDH 1409 100% Choriodal Dystrophy, Central Areolar 2 GCET2 646 100% . GCFC1 2944 94% . GCFC2 2872 95% . GCG 563 100% . GCGR 1486 2% . GCH1 877 89% GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia GCH1 877 89% GTP Cyclohydrolase 1 Deficiency (GTPCH) GCH1 877 89% Dopa-Responsive Dystonia GCH1 877 89% GTP Cyclohydrolase 1-Related Disorders GCH1 877 89% Choriodal Dystrophy, Central Areolar 2 GCHFR 267 85% . GCK 1536 99% Maturity-Onset Diabetes of the Young Type 2 GCK 1536 99% Familial Hyperinsulinism GCK 1536 99% GCK-Related Hyperinsulinism GCK 1536 99% Permanent Neonatal Diabetes Mellitus GCK 1536 99% GCK-Related Permanent Neonatal Diabetes Mellitus GCK 1536 99% Choriodal Dystrophy, Central Areolar 2 GCKR 1954 100% . GCLC 1978 100% . GCLM 853 85% . GCM1 1331 100% . GCM2 1541 100% GCM2-Related Familial Isolated Hypoparathyroidism GCM2 1541 100% Familial Isolated Hypoparathyroidism UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 227

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GCN1L1 8248 99% . GCNT1 1291 100% . GCNT2 3073 100% Adult i Blood Group with or without Congenital Cataract GCNT3 1321 100% . GCNT4 1366 100% . GCNT7 1305 99% . GCOM1 1857 96% . GCSH 542 72% Glycine Encephalopathy GCSH 542 72% GCSH-Related Glycine Encephalopathy GCSH 542 72% Choriodal Dystrophy, Central Areolar 2 GDA 1672 100% . GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 4 GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 2 GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 4A GDAP1 1298 100% Charcot-Marie-Tooth Neuropathy Type 2H/2K GDAP1 1298 100% GDAP1-Related Intermediate Charcot-Marie-Tooth Neuropathy GDAP1 1298 100% Autosomal Recessive Axonal Charcot-Marie-Tooth Disease with Vocal Cord Paresis GDAP1 1298 100% Choriodal Dystrophy, Central Areolar 2 GDAP1L1 1128 90% . GDAP2 1784 100% . GDE1 1020 96% . GDF1 1127 9% Isolated Nonsyndromic Congenital Heart Disease/Defects GDF10 1449 93% . GDF11 1236 89% . GDF15 935 98% . GDF2 1298 100% . GDF3 1103 100% . GDF5 1514 100% Acromesomelic Dysplasia, Hunter-Thompson Type GDF5 1514 100% Brachydactyly Type A2 GDF5 1514 100% Brachydactyly Type C GDF5 1514 100% Chondrodysplasia, Grebe Type GDF5 1514 100% Fibular Hypoplasia and Complex Brachydactyly GDF5 1514 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 228

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GDF5 1514 100% Multiple Synostoses Syndrome 2 GDF6 1376 88% Klippel-Feil Syndrome GDF7 1361 59% . GDF9 1373 100% . GDI1 1388 100% X-Linked Mental Retardation 41 GDI2 1382 97% . GDNF 1242 100% Hirschsprung Disease GDNF 1242 100% GDNF-Related Hirschsprung Disease GDNF 1242 100% Choriodal Dystrophy, Central Areolar 2 GDPD1 1333 100% . GDPD2 1935 88% . GDPD3 997 100% . GDPD4 1623 100% . GDPD5 1878 93% . GEM 907 100% . GEMIN2 927 100% . GEMIN4 3185 100% . GEMIN5 4763 99% . GEMIN6 512 100% . GEMIN7 400 100% . GEMIN8 741 100% . GEN1 2779 100% . GET4 1020 85% . GFAP 1512 93% Alexander Disease GFAP 1512 93% Choriodal Dystrophy, Central Areolar 2 GFER 630 59% Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay GFI1 1293 82% Severe Congenital Neutropenia, Autosomal Dominant, 2 GFI1B 1017 100% . GFM1 2328 97% Combined Oxidative Phosphorylation Deficiency GFM1 2328 97% Combined Oxidative Phosphorylation Deficiency 1 GFM2 2678 100% . GFOD1 2105 100% . GFOD2 1429 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 229

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GFPT1 2122 99% Congenital Myasthenic Syndromes GFPT1 2122 99% Myasthenia, Limb-Girdle, with Tubular Aggregates GFPT1 2122 99% GFPT1-Related Congenital Myasthenic Syndrome GFPT2 2125 98% . GFRA1 1438 96% . GFRA2 1431 66% . GFRA3 1235 96% . GFRA4 2148 9% . GFRAL 1221 100% . GGA1 2480 94% . GGA2 1910 95% . GGA3 2559 89% . GGCT 731 100% . GGCX 2337 98% Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 GGH 993 96% . GGN 1967 79% . GGNBP2 2146 96% . GGPS1 915 100% . GGT1 1758 100% . GGT5 1986 83% . GGT6 1498 76% . GGT7 2049 92% . GGTLC1 698 100% . GGTLC2 677 100% . GH1 1000 100% Isolated Growth Hormone Deficiency, Type IA GH1 1000 100% Isolated Growth Hormone Deficiency, Type II GH1 1000 100% Choriodal Dystrophy, Central Areolar 2 GH2 3967 100% . GHDC 2525 86% . GHITM 1070 100% . GHR 3077 100% Pituitary Dwarfism II GHR 3077 100% Choriodal Dystrophy, Central Areolar 2 GHRH 366 92% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 230

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GHRHR 1324 84% Isolated Growth Hormone Deficiency, Type IB GHRL 567 97% . GHSR 2057 100% Partial Isolated Growth Hormone Deficiency GIF 1290 100% Intrinsic Factor Deficiency GIGYF1 3204 96% . GIGYF2 4493 96% . GIMAP1 929 86% . GIMAP1-GIMAP5 2075 84% . GIMAP2 1022 100% . GIMAP4 998 100% . GIMAP5 938 100% . GIMAP6 2483 100% . GIMAP7 907 100% . GIMAP8 2014 100% . GIN1 1597 100% . GINS1 619 100% . GINS2 578 89% . GINS3 784 85% . GINS4 700 100% . GIP 482 97% . GIPC1 1216 90% . GIPC2 972 95% . GIPC3 963 75% . GIPR 1453 87% . GIT1 2397 97% . GIT2 2552 98% . GJA1 1153 100% Oculodentodigital Dysplasia GJA1 1153 100% Syndactyly, Type III GJA1 1153 100% Hypoplastic Left Heart Syndrome GJA10 1636 100% . GJA3 1312 74% Zonular Pulverulent Cataract 3 GJA4 1006 100% . GJA5 1081 100% Familial Atrial Fibrillation UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 231

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GJA8 1306 100% Zonular Pulverulent Cataract 1 GJA8 1306 100% Cataract-Microcornea Syndrome GJA8 1306 100% Choriodal Dystrophy, Central Areolar 2 GJA9 1552 100% . GJB1 856 94% Charcot-Marie-Tooth Neuropathy X Type 1 GJB1 856 94% Charcot-Marie-Tooth Neuropathy X GJB1 856 94% Choriodal Dystrophy, Central Areolar 2 GJB2 685 100% Vohwinkel Syndrome GJB2 685 100% Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GJB2 685 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive GJB2 685 100% GJB2-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB2 685 100% Ichthyosis, Hystrix-like, with Deafness GJB2 685 100% Choriodal Dystrophy, Central Areolar 2 GJB3 817 100% GJB3-Related Erythrokeratodermia Variabilis GJB3 817 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GJB3 817 100% DFNA 2B Nonsyndromic Hearing Loss and Deafness GJB3 817 100% Choriodal Dystrophy, Central Areolar 2 GJB4 805 100% GJB4-Related Erythrokeratodermia Variabilis GJB4 805 100% Choriodal Dystrophy, Central Areolar 2 GJB5 826 100% . GJB6 790 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GJB6 790 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive GJB6 790 100% Hidrotic Ectodermal Dysplasia 2 GJB6 790 100% DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% GJB6-Related DFNA 3 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness GJB6 790 100% Choriodal Dystrophy, Central Areolar 2 GJB7 676 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 232

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GJC1 1195 100% . GJC2 1324 70% GJC2-Related Disorders GJC2 1324 70% Spastic Paraplegia 44 GJC2 1324 70% Pelizaeus-Merzbacher-Like Disease 1 GJC2 1324 70% Hereditary Lymphedema IC GJC3 848 100% . GJD2 974 100% . GJD3 889 32% . GJD4 1121 71% . GK 1764 100% Glycerol Kinase Deficiency GK 1764 100% Choriodal Dystrophy, Central Areolar 2 GK2 1666 100% . GK5 1654 97% . GKAP1 1145 100% . GKN1 624 100% . GKN2 579 100% . GLA 1318 100% Fabry Disease GLA 1318 100% Choriodal Dystrophy, Central Areolar 2 GLB1 2272 100% Mucopolysaccharidosis Type IVB GLB1 2272 100% GM1 Gangliosidosis GLB1 2272 100% Choriodal Dystrophy, Central Areolar 2 GLB1L 2029 100% . GLB1L2 1987 96% . GLB1L3 2042 99% . GLCCI1 1676 76% . GLCE 1866 100% . GLDC 3163 96% Glycine Encephalopathy GLDC 3163 96% GLDC-Related Glycine Encephalopathy GLDC 3163 96% Choriodal Dystrophy, Central Areolar 2 GLDN 1696 92% . GLE1 2280 100% Lethal Arthrogryposis With Anterior Horn Cell Disease GLE1 2280 100% Lethal Congenital Contracture Syndrome 1 GLG1 3896 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 233

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GLI1 3765 100% . GLI2 4813 91% Holoprosencephaly GLI2 4813 91% GLI2-Related Holoprosencephaly GLI3 4799 100% Pallister-Hall Syndrome GLI3 4799 100% Greig Cephalopolysyndactyly Syndrome GLI3 4799 100% GLI3-Related Disorders GLI3 4799 100% Postaxial Polydactyly Type A GLI3 4799 100% Preaxial Polydactyly Type IV GLI3 4799 100% Choriodal Dystrophy, Central Areolar 2 GLI4 1143 80% . GLIPR1 825 100% . GLIPR1L1 722 100% . GLIPR1L2 778 100% . GLIPR2 485 96% . GLIS1 1895 86% . GLIS2 1599 77% Nephronophthisis 7 GLIS3 3045 99% Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism GLMN 1857 100% Glomuvenous Malformation GLO1 579 98% . GLOD4 933 100% . GLOD5 499 87% . GLP1R 1444 89% . GLP2R 1714 100% . GLRA1 1729 100% Hyperekplexia GLRA1 1729 100% GLRA1-Related Hyperekplexia GLRA1 1729 100% Choriodal Dystrophy, Central Areolar 2 GLRA2 1539 100% . GLRA3 1435 100% . GLRA4 2030 96% . GLRB 1831 100% Hyperekplexia GLRB 1831 100% GLRB-Related Hyperekplexia GLRX 329 100% . GLRX2 705 90% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 234

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GLRX3 1052 91% . GLRX5 482 39% Congenital Sideroblastic Anemia GLRX5 482 39% Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive GLS 2082 82% . GLS2 1881 98% . GLT1D1 833 92% . GLT25D1 1917 77% . GLT25D2 1929 95% . GLT6D1 847 100% . GLT8D1 1152 100% . GLT8D2 1086 100% . GLTP 650 100% . GLTPD1 653 100% . GLTPD2 892 58% . GLTSCR1 4735 63% . GLTSCR2 1489 67% . GLUD1 1729 100% Familial Hyperinsulinism GLUD1 1729 100% GLUD1-Related Hyperinsulinism GLUD1 1729 100% Choriodal Dystrophy, Central Areolar 2 GLUD2 1681 100% . GLUL 1146 100% . GLYAT 1095 100% . GLYATL1 1030 97% . GLYATL2 905 100% . GLYATL3 887 76% . GLYCTK 2459 100% . GLYR1 1726 100% . GM2A 938 95% GM2 Activator Deficiency GM2A 938 95% Choriodal Dystrophy, Central Areolar 2 GMCL1 1604 92% . GMDS 1163 92% . GMEB1 1875 100% . GMEB2 1629 89% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 235

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GMFB 457 100% . GMFG 457 100% . GMIP 2997 95% . GML 489 100% . GMNC 1025 100% . GMNN 654 100% . GMPPA 1311 98% . GMPPB 1996 100% . GMPR 1074 92% . GMPR2 1282 100% . GMPS 2146 99% . GNA11 1108 100% . GNA12 1162 90% . GNA13 1150 100% . GNA14 1096 100% . GNA15 1153 85% . GNAI1 1144 98% . GNAI2 1111 99% . GNAI3 1097 100% . GNAL 1574 81% . GNAO1 1447 100% . GNAQ 1108 99% . GNAS 6188 99% McCune-Albright Syndrome GNAS 6188 99% Pseudohypoparathyroidism Type IA GNAS 6188 99% Osseus Heteroplasia, Progressive GNAS 6188 99% Pseudohypoparathyroidism Type IB GNAS 6188 99% Choriodal Dystrophy, Central Areolar 2 GNAT1 1085 100% Congenital Stationary Night Blindness, Autosomal Dominant 3 GNAT2 1097 100% Achromatopsia GNAT2 1097 100% Achromatopsia 4 GNAT3 1097 100% . GNAZ 1076 100% . GNB1 1059 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 236

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GNB1L 1008 100% . GNB2 1059 98% . GNB2L1 986 100% . GNB3 1059 99% . GNB4 1059 100% . GNB5 1236 98% . GNE 3227 100% Sialuria GNE 3227 100% Inclusion Body Myopathy 2 GNE 3227 100% Nonaka Myopathy GNE 3227 100% GNE-Related Myopathies GNG10 215 67% . GNG11 230 100% . GNG12 227 100% . GNG13 212 100% . GNG2 224 100% . GNG3 236 100% . GNG4 236 100% . GNG5 215 100% . GNG7 215 63% . GNG8 221 100% . GNGT1 233 100% . GNGT2 218 100% . GNL1 1872 98% . GNL2 2260 100% . GNL3 1773 100% . GNL3L 1809 100% . GNLY 469 100% . GNMT 912 77% . GNPAT 2107 100% Rhizomelic Chondrodysplasia Punctata Type 2 GNPAT 2107 100% Choriodal Dystrophy, Central Areolar 2 GNPDA1 894 100% . GNPDA2 855 100% . GNPNAT1 575 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 237

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GNPTAB 3855 100% Mucolipidosis II GNPTAB 3855 100% Mucolipidosis III Alpha/Beta GNPTAB 3855 100% GNPTAB-Related Mucolipidoses GNPTAB 3855 100% Choriodal Dystrophy, Central Areolar 2 GNPTG 962 81% Mucolipidosis III Gamma GNRH1 291 100% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency GNRH1 291 100% GNRH1-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency GNRH2 699 100% . GNRHR 1472 100% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency GNRHR 1472 100% GNRHR-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency GNS 1715 90% Mucopolysaccharidosis Type IIID GNS 1715 90% Choriodal Dystrophy, Central Areolar 2 GOLGA1 2388 94% . GOLGA2 3113 100% . GOLGA3 5013 98% . GOLGA4 6883 100% . GOLGA5 2244 100% . GOLGA6A 2154 60% . GOLGA6B 2154 67% . GOLGA6C 2154 70% . GOLGA6D 2154 54% . GOLGA6L1 2043 22% . GOLGA6L10 2942 47% . GOLGA6L6 2285 10% . GOLGA6L9 2670 0% . GOLGA7 492 88% . GOLGA7B 580 97% . GOLGA8A 1876 34% . GOLGA8B 1876 28% . GOLGB1 9864 100% . GOLIM4 2155 100% . GOLM1 1242 100% . GOLPH3 913 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 238

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GOLPH3L 874 100% . GOLT1A 419 94% . GOLT1B 437 100% . GON4L 8795 98% . GOPC 1425 100% . GORAB 1358 100% Geroderma Osteodysplasticum GORASP1 1359 97% . GORASP2 1607 96% . GOSR1 1006 100% . GOSR2 1259 97% Progressive Myoclonic Epilepsy 6 GOT1 1278 100% . GOT1L1 1302 100% . GOT2 1333 100% . GP1BA 1963 100% Bernard-Soulier Syndrome Type A GP1BA 1963 100% Pseudo-von Willebrand Disease GP1BA 1963 100% Choriodal Dystrophy, Central Areolar 2 GP1BB 629 9% Bernard-Soulier Syndrome Type B GP1BB 629 9% Choriodal Dystrophy, Central Areolar 2 GP2 1658 99% . GP5 1687 96% . GP6 3042 92% . GP9 538 83% Bernard-Soulier Syndrome Type C GPA33 988 100% . GPAA1 1914 96% . GPAM 2567 100% . GPANK1 1079 100% . GPAT2 2472 66% . GPATCH1 2876 97% . GPATCH2 1627 100% . GPATCH3 1606 100% . GPATCH4 1259 100% . GPATCH8 4541 100% . GPBAR1 997 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 239

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GPBP1 1848 99% . GPBP1L1 1465 100% . GPC1 1713 86% . GPC2 1780 77% . GPC3 2014 95% GPC3-Related Simpson-Golabi-Behmel Syndrome Type 1 GPC3 2014 95% Simpson-Golabi-Behmel Syndrome Type 1 GPC3 2014 95% Choriodal Dystrophy, Central Areolar 2 GPC4 1707 100% GPC4-Related Simpson-Golabi-Behmel Syndrome Type 1 GPC4 1707 100% Simpson-Golabi-Behmel Syndrome Type 1 GPC5 1751 97% . GPC6 1704 100% Omodysplasia 1 GPCPD1 2095 100% . GPCRLTM7 826 100% . GPD1 1082 100% . GPD1L 1088 99% Brugada Syndrome GPD1L 1088 99% Brugada Syndrome 2 GPD2 2248 100% . GPER 1132 100% . GPHA2 402 100% . GPHB5 284 100% . GPHN 2402 100% Hyperekplexia GPHN 2402 100% GPHN-Related Hyperekplexia GPI 2003 94% . GPIHBP1 571 72% . GPKOW 1475 97% . GPLD1 2758 99% . GPM6A 873 100% . GPM6B 1112 99% . GPN1 1809 92% . GPN2 953 100% . GPN3 1168 86% . GPNMB 1902 100% . GPR1 1072 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 240

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GPR101 1531 100% . GPR107 1883 88% . GPR108 1704 95% . GPR110 2839 98% . GPR111 1957 100% . GPR112 9335 100% . GPR113 3967 94% . GPR114 1631 100% . GPR115 2120 100% . GPR116 4121 100% . GPR119 1012 100% . GPR12 1009 100% . GPR123 1707 82% . GPR124 4093 73% . GPR125 4042 96% . GPR126 4086 100% . GPR128 2458 100% . GPR132 1151 100% . GPR133 2725 96% . GPR135 1489 80% . GPR137 2797 97% . GPR137B 1228 99% . GPR137C 1318 92% . GPR139 1070 99% . GPR141 922 100% . GPR142 1405 100% . GPR143 1251 76% Ocular Albinism, X-Linked GPR143 1251 76% Congenital Nystagmus 6, X-Linked GPR143 1251 76% Choriodal Dystrophy, Central Areolar 2 GPR144 2972 48% . GPR146 1006 94% . GPR148 1048 100% . GPR149 2212 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 241

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GPR15 1087 100% . GPR150 1309 34% . GPR151 1264 100% . GPR152 1417 100% . GPR153 1850 60% . GPR155 2673 100% . GPR156 2611 100% . GPR157 1024 81% . GPR158 3692 98% . GPR160 1021 100% . GPR161 1610 100% . GPR162 1802 97% . GPR17 2156 100% . GPR171 964 100% . GPR172A 1354 100% . GPR172B 1363 100% . GPR173 1126 92% . GPR174 1006 100% . GPR176 1560 91% . GPR179 7148 98% . GPR18 1000 100% . GPR180 1359 89% . GPR182 1219 100% . GPR183 1090 100% . GPR19 1252 100% . GPR20 1081 87% . GPR21 1054 100% . GPR22 1306 100% . GPR25 1090 85% . GPR26 1026 90% . GPR27 1132 63% . GPR3 997 100% . GPR31 964 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 242

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GPR32 1075 100% . GPR33 1006 0% . GPR34 1150 100% . GPR35 1969 95% . GPR37 1850 100% . GPR37L1 1454 100% . GPR39 1370 100% . GPR4 1093 100% . GPR45 1123 100% . GPR50 1862 100% . GPR52 1090 100% . GPR55 964 100% . GPR56 2882 100% Polymicrogyria GPR6 1093 100% . GPR61 1360 100% . GPR62 1111 58% . GPR63 1264 100% . GPR64 3214 100% . GPR65 1018 100% . GPR68 1102 68% . GPR75 1627 100% . GPR75-ASB3 1711 94% . GPR77 1018 100% . GPR78 1104 91% . GPR82 1015 100% . GPR83 1288 100% . GPR84 1195 100% . GPR85 1117 100% . GPR87 1085 100% . GPR88 1159 71% . GPR89A 1488 89% . GPR89B 1434 30% . GPR89C 1998 0% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 243

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GPR97 1698 96% . GPR98 19281 100% Usher Syndrome Type 2 GPR98 19281 100% Usher Syndrome Type 2C GPRASP1 4192 100% . GPRASP2 2521 100% . GPRC5A 1086 100% . GPRC5B 1224 100% . GPRC5C 1485 100% . GPRC5D 1050 100% . GPRC6A 2805 100% . GPRIN1 3031 92% . GPRIN2 1381 99% . GPRIN3 2335 100% . GPS1 2002 93% . GPS2 1024 95% . GPSM1 2707 55% . GPSM2 2111 100% . GPSM3 499 97% . GPT 1535 76% . GPT2 1710 94% . GPX1 966 84% . GPX2 581 100% . GPX3 701 100% . GPX4 1102 77% . GPX5 790 100% . GPX6 686 100% . GPX7 576 92% . GPX8 642 100% . GRAMD1A 2255 96% . GRAMD1B 2297 100% . GRAMD1C 2181 99% . GRAMD2 1113 96% . GRAMD3 1974 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 244

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GRAMD4 1809 96% . GRAP 674 48% . GRAP2 1021 100% . GRAPL 373 0% . GRASP 1220 55% . GRB10 2076 100% . GRB14 1679 94% . GRB2 674 100% . GRB7 1814 100% . GREB1 6086 99% . GREB1L 5896 77% . GREM1 2236 100% . GREM2 511 100% . GRHL1 1921 100% . GRHL2 1942 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant GRHL2 1942 100% DFNA28 Nonsyndromic Hearing Loss and Deafness GRHL3 2291 98% . GRHPR 1023 95% Hyperoxaluria, Primary, Type 2 GRHPR 1023 95% Hyperoxaluria, Primary GRHPR 1023 95% Choriodal Dystrophy, Central Areolar 2 GRIA1 2904 100% . GRIA2 2976 100% . GRIA3 2864 100% X-Linked Mental Retardation 94 GRIA4 3290 100% . GRID1 3094 98% . GRID2 3088 100% . GRID2IP 3724 54% . GRIK1 2985 99% . GRIK2 2964 100% . GRIK3 2824 99% . GRIK4 2947 87% . GRIK5 3019 83% . GRIN1 3037 85% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 245

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GRIN2A 8051 100% Epilepsy with Neurodevelopmental Defects GRIN2B 4503 100% . GRIN2C 3750 65% . GRIN2D 4059 54% . GRIN3A 3384 94% . GRIN3B 3168 53% . GRINA 1140 99% . GRIP1 3327 100% . GRIP2 3522 95% . GRIPAP1 3062 92% . GRK1 1720 58% Oguchi Disease 2 GRK4 1801 97% . GRK5 1837 100% . GRK6 1941 99% . GRK7 1678 100% . GRM1 3682 100% . GRM2 3719 100% . GRM3 2660 100% . GRM4 2779 100% . GRM5 3675 93% . GRM6 2674 81% GRM6-Related Autosomal Recessive Congenital Stationary Night Blindness GRM6 2674 81% Congenital Stationary Night Blindness, Type 1B GRM7 2863 99% . GRM8 3118 100% . GRN 1830 100% GRN-Related Frontotemporal Dementia GRP 844 83% . GRPEL1 670 100% . GRPEL2 694 94% . GRPR 1167 100% . GRSF1 1640 78% . GRTP1 1043 99% . GRWD1 1369 91% . GRXCR1 889 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 246

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GRXCR2 759 100% . GSC 786 40% . GSC2 630 47% . GSDMA 1382 100% . GSDMB 1291 100% . GSDMC 1579 100% . GSDMD 1495 85% . GSG1 1777 100% . GSG1L 1181 71% . GSG2 2401 100% . GSK3A 1496 76% . GSK3B 1350 100% . GSN 2654 97% Amyloidosis V GSPT1 2252 93% . GSPT2 1891 100% . GSR 1621 81% . GSS 1473 100% Glutathione Synthetase Deficiency GSS 1473 100% Choriodal Dystrophy, Central Areolar 2 GSTA1 693 100% . GSTA2 693 100% . GSTA3 693 100% . GSTA4 693 100% . GSTA5 693 100% . GSTCD 2376 100% . GSTK1 1495 100% . GSTM1 689 45% Lung Cancer GSTM1 689 45% Lung Cancer, GSTM1-Related GSTM1 689 45% Choriodal Dystrophy, Central Areolar 2 GSTM2 702 100% . GSTM3 710 91% . GSTM4 714 100% . GSTM5 689 100% . GSTO1 863 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 247

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GSTO2 869 99% . GSTP1 661 98% . GSTT1 743 81% . GSTT2 1510 33% . GSTT2B 755 31% . GSTZ1 772 98% . GSX1 803 69% . GSX2 923 79% . GTDC1 1413 100% . GTF2A1 1273 100% . GTF2A1L 1473 98% . GTF2A2 346 100% . GTF2B 979 100% . GTF2E1 1336 100% . GTF2E2 904 100% . GTF2F1 1606 97% . GTF2F2 782 92% . GTF2H1 1703 100% . GTF2H2 1248 43% . GTF2H2C 1248 53% . GTF2H2D 1248 53% . GTF2H3 979 100% . GTF2H4 1441 100% . GTF2H5 224 100% . GTF2I 3193 72% . GTF2IRD1 3442 98% . GTF2IRD2 2910 82% . GTF2IRD2B 2910 83% . GTF3A 1134 96% . GTF3C1 6478 98% . GTF3C2 2808 100% . GTF3C3 2841 100% . GTF3C4 2489 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 248

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GTF3C5 1629 97% . GTF3C6 666 91% . GTPBP1 2058 91% . GTPBP10 1204 100% . GTPBP2 1857 98% . GTPBP3 2647 93% . GTPBP4 1973 100% . GTPBP5 1245 100% . GTPBP6 1778 45% . GTPBP8 879 100% . GTSE1 2264 100% . GTSF1 532 100% . GTSF1L 1353 100% . GUCA1A 622 100% Cone Dystrophy 3 GUCA1B 619 100% Retinitis Pigmentosa, Autosomal Dominant GUCA1B 619 100% Retinitis Pigmentosa GUCA1B 619 100% GUCA1B-Related Retinitis Pigmentosa GUCA1C 646 100% . GUCA2A 360 79% . GUCA2B 351 100% . GUCY1A2 2231 99% . GUCY1A3 3745 100% . GUCY1B3 1916 100% . GUCY2C 3330 100% . GUCY2D 3384 80% Leber Congenital Amaurosis GUCY2D 3384 80% GUCY2D-Related Leber Congenital Amaurosis GUCY2D 3384 80% Cone-Rod Dystrophy 6 GUCY2D 3384 80% Choriodal Dystrophy, Central Areolar 2 GUCY2F 3399 100% . GUF1 2078 100% . GUK1 844 93% . GULP1 1031 100% . GUSB 2004 100% Mucopolysaccharidosis Type VII UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 249

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) GUSB 2004 100% Choriodal Dystrophy, Central Areolar 2 GXYLT1 1355 87% . GXYLT2 1360 84% . GYG1 1379 100% . GYG2 1829 92% . GYLTL1B 2218 80% . GYPA 481 99% . GYPB 296 100% . GYPC 403 94% . GYPE 249 100% . GYS1 2278 87% Glycogen Storage Disease Type 0, Muscle GYS2 2176 100% Glycogen Storage Disease Type 0, Liver GZF1 2156 100% . GZMA 809 100% . GZMB 764 100% . GZMH 761 100% . GZMK 815 100% . GZMM 794 74% . H1F0 589 100% . H1FNT 772 93% . H1FOO 1061 68% . H1FX 646 83% . H2AFB1 1056 20% . H2AFB2 704 0% . H2AFB3 1056 20% . H2AFJ 394 100% . H2AFV 497 100% . H2AFX 436 100% . H2AFY 1361 100% . H2AFY2 1151 100% . H2AFZ 407 100% . H2BFM 473 100% . H2BFWT 536 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 250

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) H3F3A 423 100% . H3F3B 423 100% . H3F3C 412 100% . H6PD 2392 100% . HAAO 901 89% . HABP2 1776 100% Factor VII Marburg I Variant Thrombophilia HABP4 1274 73% . HACE1 2826 97% . HACL1 1805 100% . HADH 1032 100% Familial Hyperinsulinism HADH 1032 100% 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency HADH 1032 100% HADH-Related Hyperinsulinism HADH 1032 100% Choriodal Dystrophy, Central Areolar 2 HADHA 2372 99% Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency HADHA 2372 99% Trifunctional Protein Deficiency HADHA 2372 99% Choriodal Dystrophy, Central Areolar 2 HADHB 1485 100% Trifunctional Protein Deficiency HADHB 1485 100% Choriodal Dystrophy, Central Areolar 2 HAGH 1140 93% . HAGHL 1449 56% . HAL 2054 100% Histidinemia HAL 2054 100% Choriodal Dystrophy, Central Areolar 2 HAMP 267 100% Juvenile Hereditary Hemochromatosis HAMP 267 100% HAMP-Related Juvenile Hemochromatosis HAND1 656 100% . HAND2 662 79% . HAO1 1145 100% . HAO2 1084 100% . HAP1 2036 98% . HAPLN1 1081 100% . HAPLN2 1043 75% . HAPLN3 1099 100% . HAPLN4 1229 75% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 251

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HARBI1 1058 100% . HARS 1582 100% . HARS2 1573 93% . HAS1 1757 73% . HAS2 1671 100% . HAS3 1786 100% . HAT1 1304 100% . HAUS1 873 96% . HAUS2 732 87% . HAUS3 1828 100% . HAUS4 1128 100% . HAUS5 1978 90% . HAUS6 2936 100% . HAUS7 1147 83% . HAUS8 1377 100% . HAVCR1 1127 100% . HAVCR2 934 100% . HAX1 1135 100% Severe Congenital Neutropenia, Autosomal Recessive, 3 HBA1 441 94% Alpha-Thalassemia HBA1 441 94% Choriodal Dystrophy, Central Areolar 2 HBA2 441 68% Alpha-Thalassemia HBA2 441 68% Hemoglobin Constant Spring HBA2 441 68% Hemoglobin Quong Sze HBA2 441 68% Hemoglobin Pakse HBA2 441 68% Choriodal Dystrophy, Central Areolar 2 HBB 456 100% Beta-Thalassemia HBB 456 100% Hemoglobin SC HBB 456 100% Hemoglobin SD HBB 456 100% Hemoglobin E HBB 456 100% Hemoglobin SS HBB 456 100% Hemoglobin SO HBB 456 100% Sickle Cell Disease HBB 456 100% Hemoglobin S Beta-Thalassemia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 252

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HBB 456 100% Hereditary Persistence of Fetal Hemoglobin HBB 456 100% Choriodal Dystrophy, Central Areolar 2 HBD 456 100% Hereditary Persistence of Fetal Hemoglobin HBE1 456 100% . HBEGF 647 99% . HBG1 456 77% . HBG2 456 100% . HBM 438 83% . HBP1 1758 100% . HBQ1 441 65% . HBS1L 3600 100% . HBXIP 538 100% . HBZ 441 23% Alpha-Thalassemia HBZ 441 23% Choriodal Dystrophy, Central Areolar 2 HCAR1 1045 100% . HCAR2 1096 100% . HCAR3 1168 99% . HCCS 831 100% Microphthalmia with Linear Skin Defects Syndrome HCFC1 6212 89% . HCFC1R1 433 78% . HCFC2 2439 99% . HCK 1871 89% . HCLS1 1513 100% . HCN1 2705 95% . HCN2 2702 69% . HCN3 2357 96% . HCN4 3644 80% Brugada Syndrome HCN4 3644 80% Sick Sinus Syndrome 2, Autosomal Dominant HCN4 3644 80% Brugada Syndrome 8 HCRT 404 43% . HCRTR1 1306 100% . HCRTR2 1363 100% . HCST 343 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 253

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HDAC1 1505 93% . HDAC10 2090 95% . HDAC11 1358 98% . HDAC2 1523 97% . HDAC3 1347 100% . HDAC4 3359 95% Brachydactyly-Mental Retardation Syndrome HDAC5 3555 95% . HDAC6 3760 95% . HDAC7 3080 76% . HDAC8 1414 100% . HDAC9 4373 100% . HDC 2037 100% . HDDC2 639 87% . HDDC3 439 74% . HDGF 956 95% . HDGFL1 760 59% . HDGFRP2 2188 54% . HDGFRP3 636 93% . HDHD1 1120 77% . HDHD2 804 100% . HDHD3 760 100% . HDLBP 3991 100% . HDX 3217 100% . HEATR1 6611 100% . HEATR2 2620 71% . HEATR3 2103 97% . HEATR4 3004 100% . HEATR5A 5382 100% . HEATR5B 6356 100% . HEATR6 3626 98% . HEATR7A 5226 29% . HEATR7B2 4926 100% . HEATR8 4060 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 254

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HEBP1 586 100% . HEBP2 634 83% . HECA 1648 83% . HECTD1 8001 100% . HECTD2 2557 95% . HECTD3 2670 95% . HECW1 4933 100% . HECW2 4831 100% . HEG1 4214 92% . HELB 3316 100% . HELLS 2605 99% . HELQ 3378 100% . HELT 1000 100% . HELZ 5949 100% . HEMGN 1471 100% . HEMK1 1057 100% . HENMT1 1210 100% . HEPACAM 1279 76% HEPACAM-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts HEPACAM 1279 76% Megalencephalic Leukoencephalopathy with Subcortical Cysts HEPACAM2 1870 100% . HEPH 4331 95% . HEPHL1 3560 100% . HEPN1 271 100% . HERC1 14894 100% . HERC2 14873 99% . HERC3 3249 100% . HERC4 3270 100% . HERC5 3167 92% . HERC6 3161 97% . HERPUD1 1287 98% . HERPUD2 1253 100% . HES1 859 100% . HES2 538 32% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 255

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HES3 573 47% . HES4 1328 63% . HES5 513 32% . HES6 777 58% . HES7 1180 32% Spondylocostal Dysostosis HES7 1180 32% HES7-Related Spondylocostal Dysostosis, Autosomal Recessive HES7 1180 32% Spondylocostal Dysostosis, Autosomal Recessive HESX1 574 100% Septooptic Dysplasia HESX1 574 100% HESX1-Related Combined Pituitary Hormone Deficiency HESX1 574 100% Choriodal Dystrophy, Central Areolar 2 HEXA 1646 100% Hexosaminidase A Deficiency HEXA 1646 100% Choriodal Dystrophy, Central Areolar 2 HEXB 1727 98% Sandhoff Disease HEXB 1727 98% Choriodal Dystrophy, Central Areolar 2 HEXDC 1802 99% . HEXIM1 1084 100% . HEXIM2 869 74% . HEY1 1047 84% . HEY2 1034 94% . HEYL 1007 67% . HFE 1619 100% HFE-Associated Hereditary Hemochromatosis HFE 1619 100% Choriodal Dystrophy, Central Areolar 2 HFE2 2485 100% Juvenile Hereditary Hemochromatosis HFE2 2485 100% HJV (HFE2)-Related Juvenile Hemochromatosis HFM1 4460 100% . HGC6.3 520 0% . HGD 1394 100% Alkaptonuria HGD 1394 100% Choriodal Dystrophy, Central Areolar 2 HGF 2589 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive HGF 2589 97% DFNB39 Nonsyndromic Hearing Loss and Deafness HGFAC 2024 86% . HGS 2422 96% . HGSNAT 1980 94% Mucopolysaccharidosis Type IIIC UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 256

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HHAT 1624 94% . HHATL 1559 99% . HHEX 829 56% . HHIP 2155 100% . HHIPL1 2486 61% . HHIPL2 2211 100% . HHLA1 1660 92% . HHLA2 1277 100% . HHLA3 1193 90% . HIAT1 1521 97% . HIATL1 1569 93% . HIBADH 1043 91% . HIBCH 1337 100% . HIC1 4379 64% . HIC2 1856 99% . HIF1A 2892 99% . HIF1AN 1082 96% . HIF3A 2375 94% . HIGD1A 463 100% . HIGD1B 312 100% . HIGD1C 306 88% . HIGD2A 329 100% . HILPDA 196 100% . HINFP 2009 100% . HINT1 393 100% . HINT2 512 83% . HINT3 569 64% . HIP1 3238 96% . HIP1R 3335 81% . HIPK1 4284 100% . HIPK2 3869 98% . HIPK3 3712 100% . HIPK4 1867 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 257

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HIRA 3154 100% . HIRIP3 1802 100% . HIST1H1A 652 100% . HIST1H1B 685 100% . HIST1H1C 646 100% . HIST1H1D 670 100% . HIST1H1E 664 100% . HIST1H1T 628 100% . HIST1H2AA 400 100% . HIST1H2AB 397 100% . HIST1H2AC 397 100% . HIST1H2AD 397 100% . HIST1H2AE 397 100% . HIST1H2AG 397 100% . HIST1H2AH 391 100% . HIST1H2AI 397 100% . HIST1H2AJ 391 100% . HIST1H2AK 397 100% . HIST1H2AL 397 100% . HIST1H2AM 397 100% . HIST1H2BA 388 100% . HIST1H2BB 385 100% . HIST1H2BC 385 100% . HIST1H2BD 385 100% . HIST1H2BE 385 100% . HIST1H2BF 385 100% . HIST1H2BG 385 100% . HIST1H2BH 385 100% . HIST1H2BI 385 100% . HIST1H2BJ 385 100% . HIST1H2BK 385 100% . HIST1H2BL 385 100% . HIST1H2BM 385 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 258

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HIST1H2BN 385 100% . HIST1H2BO 385 100% . HIST1H3A 415 100% . HIST1H3B 415 100% . HIST1H3C 415 100% . HIST1H3D 415 100% . HIST1H3E 415 100% . HIST1H3F 415 100% . HIST1H3G 415 100% . HIST1H3H 415 100% . HIST1H3I 415 100% . HIST1H3J 415 100% . HIST1H4A 316 100% . HIST1H4B 316 100% . HIST1H4C 316 100% . HIST1H4D 316 100% . HIST1H4E 316 100% . HIST1H4F 316 100% . HIST1H4G 301 100% . HIST1H4H 316 100% . HIST1H4I 316 100% . HIST1H4J 316 99% . HIST1H4K 316 100% . HIST1H4L 316 100% . HIST2H2AA3 794 0% . HIST2H2AA4 794 0% . HIST2H2AB 397 100% . HIST2H2AC 394 100% . HIST2H2BE 385 100% . HIST2H2BF 1187 97% . HIST2H3A 830 0% . HIST2H3C 830 0% . HIST2H3D 415 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 259

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HIST2H4A 632 0% . HIST2H4B 632 0% . HIST3H2A 397 100% . HIST3H2BB 385 100% . HIST3H3 415 100% . HIST4H4 316 100% . HIVEP1 8189 100% . HIVEP2 7365 100% . HIVEP3 8065 95% . HJURP 2283 95% . HK1 3004 99% . HK2 2826 94% . HK3 2844 95% . HKDC1 2826 100% . HKR1 1996 100% . HLA-A 1130 100% . HLA-B 1117 99% . HLA-C 1133 99% . HLA-DMA 806 100% . HLA-DMB 816 98% . HLA-DOA 773 98% . HLA-DOB 846 97% . HLA-DPA1 799 100% . HLA-DPB1 797 100% . HLA-DQA1 784 97% Celiac Disease HLA-DQA2 784 100% . HLA-DQB1 806 99% Celiac Disease HLA-DQB2 704 100% . HLA-DRA 781 100% . HLA-DRB1 1099 96% . HLA-DRB5 825 81% . HLA-E 1105 100% . HLA-F 1366 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 260

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HLA-G 1041 100% . HLCS 2217 100% Holocarboxylase Synthetase Deficiency HLCS 2217 100% Choriodal Dystrophy, Central Areolar 2 HLF 904 100% . HLTF 3130 100% . HLX 1483 99% . HM13 1713 96% . HMBOX1 1299 100% . HMBS 1200 90% Hydroxymethylbilane Synthase Deficiency HMBS 1200 90% Choriodal Dystrophy, Central Areolar 2 HMCN1 17336 100% Age-Related Macular Degeneration HMCN1 17336 100% Age-Related Macular Degeneration 1 HMG20A 1076 100% . HMG20B 990 73% . HMGA1 479 88% . HMGA2 426 73% . HMGB1 664 100% . HMGB2 646 100% . HMGB3 619 100% . HMGB4 565 100% . HMGCL 1014 94% 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency HMGCL 1014 94% Choriodal Dystrophy, Central Areolar 2 HMGCLL1 1153 100% . HMGCR 2743 100% . HMGCS1 1599 100% . HMGCS2 1563 100% 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency HMGN1 327 94% . HMGN2 297 95% . HMGN3 603 100% . HMGN4 277 100% . HMGN5 873 47% . HMGXB3 3955 97% . HMGXB4 1846 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 261

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HMHA1 3503 82% . HMHB1 134 72% . HMMR 2352 99% . HMOX1 887 96% . HMOX2 971 100% . HMP19 532 100% . HMSD 432 100% . HMX1 1055 20% . HMX2 830 99% . HMX3 1082 75% . HN1 985 94% . HN1L 593 92% . HNF1A 1936 99% Maturity-Onset Diabetes of the Young Type 3 HNF1A 1936 99% Choriodal Dystrophy, Central Areolar 2 HNF1B 1979 91% Renal Cysts and Diabetes Syndrome HNF1B 1979 91% Choriodal Dystrophy, Central Areolar 2 HNF4A 2166 99% HNF4A-Related Maturity-Onset Diabetes of the Young Type 1 HNF4A 2166 99% Maturity-Onset Diabetes of the Young Type 1 HNF4G 1378 100% . HNMT 1121 100% Asthma, Susceptibility to HNMT 1121 100% Asthma, HNMT-Related Susceptibility to HNRNPA0 922 92% . HNRNPA1 1159 100% . HNRNPA1L2 967 100% . HNRNPA2B1 1106 100% . HNRNPA3 1177 95% . HNRNPAB 1027 79% . HNRNPC 1068 100% . HNRNPCL1 886 100% . HNRNPD 1100 81% . HNRNPF 1252 100% . HNRNPH1 1398 100% . HNRNPH2 1354 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 262

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HNRNPH3 1266 100% . HNRNPK 1490 100% . HNRNPL 2064 86% . HNRNPM 2649 96% . HNRNPR 2282 100% . HNRNPU 3229 98% . HNRNPUL1 2758 98% . HNRNPUL2 2300 90% . HNRPDL 1291 88% . HNRPLL 1889 85% . HOGA1 1012 100% Hyperoxaluria, Primary, Type 3 HOGA1 1012 100% Hyperoxaluria, Primary HOMER1 1101 100% . HOMER2 1245 99% . HOMER3 1318 70% . HOMEZ 1661 97% . HOOK1 2275 89% . HOOK2 2252 92% . HOOK3 2245 97% . HOPX 664 99% . HORMAD1 1241 100% . HORMAD2 964 100% . HOXA1 2328 100% HOXA1-Related Disorders HOXA1 2328 100% Athabaskan Brainstem Dysgenesis Syndrome HOXA1 2328 100% Bosley-Salih-Alorainy Syndrome HOXA10 1241 82% . HOXA11 950 86% . HOXA13 1175 64% Hand-Foot-Genital Syndrome HOXA13 1175 64% Choriodal Dystrophy, Central Areolar 2 HOXA2 1139 99% Microtia, Hearing Impairment, and Cleft Palate HOXA3 1340 98% . HOXA4 971 61% . HOXA5 821 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 263

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HOXA6 710 100% . HOXA7 701 97% . HOXA9 827 89% . HOXB1 914 100% . HOXB13 863 100% . HOXB2 1079 100% . HOXB3 1304 99% . HOXB4 764 79% . HOXB5 818 100% . HOXB6 683 82% . HOXB7 662 88% . HOXB8 740 99% . HOXB9 761 94% . HOXC10 1037 100% . HOXC11 923 93% . HOXC12 857 67% . HOXC13 1001 73% . HOXC4 803 99% . HOXC5 677 93% . HOXC6 1120 100% . HOXC8 737 100% . HOXC9 791 88% . HOXD1 995 78% . HOXD10 1031 100% Congenital Vertical Talus HOXD11 1025 50% . HOXD12 821 100% . HOXD13 1040 88% Syndactyly, Type II HOXD13 1040 88% Brachydactyly Type D HOXD13 1040 88% Brachydactyly Type E HOXD13 1040 88% HOXD13-Related Brachydactyly HOXD13 1040 88% Choriodal Dystrophy, Central Areolar 2 HOXD3 1307 100% . HOXD4 776 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 264

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HOXD8 1762 81% . HOXD9 1067 76% . HP 1249 98% Anhaptoglobinemia HP 1249 98% Choriodal Dystrophy, Central Areolar 2 HP1BP3 1710 100% . HPCA 594 95% . HPCAL1 594 100% . HPCAL4 588 100% . HPD 1347 100% Tyrosinemia Type III HPD 1347 100% Hawkinsinuria HPD 1347 100% Choriodal Dystrophy, Central Areolar 2 HPDL 1120 96% . HPGD 1216 96% Primary Hypertrophic Osteoarthropathy, Autosomal Recessive HPGD 1216 96% Isolated Congenital Digital Clubbing HPGDS 620 100% . HPN 1302 92% . HPR 1067 100% . HPRT1 693 96% Lesch-Nyhan Syndrome HPRT1 693 96% Gout, HPRT1-Related HPRT1 693 96% Choriodal Dystrophy, Central Areolar 2 HPS1 2325 93% Hermansky-Pudlak Syndrome HPS1 2325 93% Hermansky-Pudlak Syndrome 1 HPS3 3083 96% Hermansky-Pudlak Syndrome HPS3 3083 96% Hermansky-Pudlak Syndrome 3 HPS4 2326 100% Hermansky-Pudlak Syndrome HPS4 2326 100% Hermansky-Pudlak Syndrome 4 HPS5 3675 100% Hermansky-Pudlak Syndrome HPS5 3675 100% Hermansky-Pudlak Syndrome 5 HPS6 2332 85% Hermansky-Pudlak Syndrome HPS6 2332 85% Hermansky-Pudlak Syndrome 6 HPSE 1680 92% . HPSE2 1865 92% . HPX 1429 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 265

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HR 3642 84% Atrichia with Papular Lesions HR 3642 84% Alopecia Universalis HRAS 653 100% Costello Syndrome HRASLS 519 100% . HRASLS2 505 100% . HRASLS5 1353 90% . HRC 2124 99% . HRCT1 352 95% . HRG 1606 100% . HRH1 1468 100% . HRH2 2290 100% . HRH3 1350 94% . HRH4 2825 100% . HRK 280 5% . HRNR 8561 88% . HRSP12 438 100% . HS1BP3 1207 97% . HS2ST1 1209 100% . HS3ST1 928 95% . HS3ST2 1112 92% . HS3ST3A1 1229 78% . HS3ST3B1 1181 93% . HS3ST4 1379 63% . HS3ST5 1049 100% . HS3ST6 944 69% . HS6ST1 1244 82% . HS6ST2 1958 92% . HS6ST3 1424 95% . HSBP1 243 80% . HSBP1L1 241 0% . HSCB 732 99% . HSD11B1 903 100% . HSD11B1L 1798 41% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 266

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HSD11B2 1238 78% Apparent Mineralocorticoid Excess Syndrome HSD11B2 1238 78% Choriodal Dystrophy, Central Areolar 2 HSD17B1 1011 96% . HSD17B10 923 93% X-Linked Syndromic Mental Retardation 10 HSD17B10 923 93% 17-Beta-Hydroxysteroid Dehydrogenase X Deficiency HSD17B11 931 100% . HSD17B12 983 100% . HSD17B13 931 100% . HSD17B14 849 98% . HSD17B2 1184 100% . HSD17B3 977 100% Prostate Cancer HSD17B3 977 100% 17-beta Hydroxysteroid Dehydrogenase III Deficiency HSD17B3 977 100% Choriodal Dystrophy, Central Areolar 2 HSD17B4 2448 95% Peroxisomal Bifunctional Enzyme Deficiency HSD17B6 970 100% . HSD17B7 1062 100% . HSD17B8 822 88% . HSD3B1 1134 100% . HSD3B2 1131 100% Prostate Cancer HSD3B2 1131 100% 3-beta-Hydroxysteroid Dehydrogenase-Deficient Congenital Adrenal Hyperplasia HSD3B2 1131 100% Choriodal Dystrophy, Central Areolar 2 HSD3B7 1554 97% . HSDL1 1909 100% . HSDL2 1301 99% . HSF1 1642 86% . HSF2 1755 100% . HSF2BP 1037 96% . HSF4 1920 91% Cataract, Lamellar HSF5 1815 98% . HSFX1 2560 0% . HSFX2 2560 0% . HSFY1 2634 0% . HSFY2 2634 0% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 267

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HSH2D 1670 95% . HSP90AA1 2613 100% . HSP90AB1 2219 100% . HSP90B1 2484 99% . HSPA12A 2076 98% . HSPA12B 2230 85% . HSPA13 1436 100% . HSPA14 1586 99% . HSPA1A 1930 36% . HSPA1B 1930 35% . HSPA1L 1930 100% . HSPA2 1924 100% . HSPA4 2599 99% . HSPA4L 2596 100% . HSPA5 1997 100% . HSPA6 1936 99% . HSPA8 2366 100% . HSPA9 2108 100% . HSPB1 630 78% Charcot-Marie-Tooth Neuropathy Type 2 HSPB1 630 78% Charcot-Marie-Tooth Neuropathy Type 2F HSPB1 630 78% Distal Hereditary Motor Neuronopathy, Type IIB HSPB11 455 100% . HSPB2 557 96% . HSPB3 457 100% Distal Hereditary Motor Neuronopathy, Type IIC HSPB6 495 36% . HSPB7 525 99% . HSPB8 603 100% Charcot-Marie-Tooth Neuropathy Type 2 HSPB8 603 100% Charcot-Marie-Tooth Neuropathy Type 2L HSPB8 603 100% Distal Hereditary Motor Neuronopathy, Type IIA HSPB9 484 100% . HSPBAP1 1499 100% . HSPBP1 1108 86% . HSPD1 1766 100% Spastic Paraplegia 13 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 268

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HSPE1 325 99% . HSPE1-MOB4 822 99% . HSPG2 13564 90% Dyssegmental Dysplasia, Silverman-Handmaker Type HSPG2 13564 90% Schwartz-Jampel Syndrome, Type 1 HSPH1 2649 100% . HTATIP2 1365 92% . HTATSF1 2304 100% . HTN1 190 100% . HTN3 172 100% . HTR1A 1273 100% . HTR1B 1177 100% . HTR1D 1138 100% . HTR1E 1102 100% . HTR1F 1105 100% . HTR2A 1592 90% . HTR2B 1458 100% . HTR2C 1393 100% . HTR3A 2675 99% . HTR3B 1362 100% . HTR3C 1380 100% . HTR3D 2620 97% . HTR3E 1448 100% . HTR4 1483 100% . HTR5A 1082 100% . HTR6 1335 100% . HTR7 2275 100% . HTRA1 1479 68% Age-Related Macular Degeneration HTRA1 1479 68% Age-Related Macular Degeneration 7 HTRA1 1479 68% CARASIL HTRA2 1409 100% Parkinson Disease HTRA2 1409 100% HTRA2-Related Parkinson Disease HTRA3 1398 83% . HTRA4 1467 79% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 269

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) HTT 9697 96% Huntington Disease HTT 9697 96% Choriodal Dystrophy, Central Areolar 2 HUNK 2189 96% . HUS1 875 100% . HUS1B 841 100% . HUWE1 13449 98% Mental Retardation, X-Linked, Syndromic, Turner Type HVCN1 1135 100% . HYAL1 3128 100% Mucopolysaccharidosis Type IX HYAL2 1434 100% . HYAL3 2170 100% . HYAL4 1458 100% . HYDIN 16565 88% . HYI 1199 77% . HYLS1 904 100% Hydrolethalus Syndrome 1 HYOU1 3100 100% . IAH1 771 99% . IAPP 278 100% . IARS 3921 100% . IARS2 3131 100% . IBA57 1083 66% . IBSP 978 100% . IBTK 4174 100% . ICA1 1504 100% . ICA1L 1602 100% . ICAM1 1627 100% . ICAM2 844 100% . ICAM3 1672 99% . ICAM4 1776 99% . ICAM5 2819 84% . ICK 1951 100% . ICMT 875 78% . ICOS 620 100% Common Variable Immune Deficiency ICOSLG 937 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 270

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ICT1 645 99% . ID1 954 100% . ID2 413 100% . ID3 368 100% . ID4 494 72% . IDAS 1186 0% . IDE 3247 97% . IDH1 1277 100% . IDH2 1403 84% D-2-Hydroxyglutaric Aciduria 2 IDH3A 1145 97% . IDH3B 1579 100% Retinitis Pigmentosa, Autosomal Recessive IDH3B 1579 100% Retinitis Pigmentosa IDH3B 1579 100% IDH3B-Related Retinitis Pigmentosa IDH3G 1425 89% . IDI1 875 94% . IDI2 700 100% . IDO1 1252 100% . IDO2 1307 100% . IDS 2042 100% Mucopolysaccharidosis Type II IDS 2042 100% Choriodal Dystrophy, Central Areolar 2 IDUA 2018 65% Mucopolysaccharidosis Type I IDUA 2018 65% Choriodal Dystrophy, Central Areolar 2 IER2 676 80% . IER3 479 80% . IER3IP1 261 93% . IER5 988 63% . IER5L 1219 52% . IFFO1 2042 98% . IFFO2 1590 69% . IFI16 2230 100% . IFI27 533 97% . IFI27L1 331 100% . IFI27L2 409 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 271

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IFI30 781 99% . IFI35 895 92% . IFI44 1367 100% . IFI44L 1391 100% . IFI6 629 50% . IFIH1 3142 100% . IFIT1 1445 100% . IFIT1B 1433 100% . IFIT2 1427 100% . IFIT3 1490 100% . IFIT5 1457 100% . IFITM1 386 100% . IFITM10 401 100% . IFITM2 407 100% . IFITM3 410 100% . IFITM5 407 77% . IFLTD1 1539 95% . IFNA1 574 100% . IFNA10 574 100% . IFNA13 577 100% . IFNA14 574 100% . IFNA16 574 100% . IFNA17 574 100% . IFNA2 571 100% . IFNA21 574 100% . IFNA4 574 100% . IFNA5 574 100% . IFNA6 574 100% . IFNA7 574 100% . IFNA8 574 100% . IFNAR1 1718 96% . IFNAR2 1740 99% . IFNB1 568 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 272

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IFNE 631 100% . IFNG 517 100% . IFNGR1 1498 100% Familial Atypical Mycobacteriosis, IFNGR1-Related IFNGR1 1498 100% Choriodal Dystrophy, Central Areolar 2 IFNGR2 1042 93% Familial Atypical Mycobacteriosis, IFNGR2-Related IFNGR2 1042 93% Choriodal Dystrophy, Central Areolar 2 IFNK 628 100% . IFNW1 592 100% . IFRD1 1513 100% . IFRD2 1569 97% . IFT122 4108 99% Cranioectodermal Dysplasia 1 IFT122 4108 99% Cranioectodermal Dysplasia IFT140 4505 96% . IFT172 5442 100% . IFT20 467 74% . IFT27 737 100% . IFT43 799 100% Cranioectodermal Dysplasia 3 IFT43 799 100% Cranioectodermal Dysplasia IFT46 1112 100% . IFT52 1366 100% . IFT57 1334 100% . IFT74 1948 100% . IFT80 2483 100% Asphyxiating Thoracic Dystrophy 2 IFT80 2483 100% Asphyxiating Thoracic Dystrophy IFT81 2215 95% . IFT88 2706 99% . IGBP1 1044 100% Agenesis of the Corpus Callosum with Mental Retardation, Ocular Coloboma, and Micrognathia IGDCC3 2501 95% . IGDCC4 3833 86% . IGF1 941 100% Insulin-Like Growth Factor I Deficiency IGF1R 4188 97% Insulin-Like Growth Factor I, Resistance to IGF2 894 100% Beckwith-Wiedemann Syndrome IGF2 894 100% Russell-Silver Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 273

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IGF2 894 100% Chromosome 11p15.5-Related Russell-Silver Syndrome IGF2 894 100% Choriodal Dystrophy, Central Areolar 2 IGF2BP1 1794 100% . IGF2BP2 1864 96% . IGF2BP3 1800 100% . IGF2R 7668 98% . IGFALS 3860 70% Acid-Labile Subunit Deficiency IGFBP1 796 78% . IGFBP2 994 59% . IGFBP3 1335 37% . IGFBP4 793 57% . IGFBP5 835 79% . IGFBP6 739 60% . IGFBP7 1000 54% . IGFBPL1 853 47% . IGFL1 349 100% . IGFL2 432 94% . IGFL3 394 100% . IGFL4 391 97% . IGFLR1 1084 100% . IGFN1 11219 41% . IGHMBP2 3042 95% Spinal Muscular Atrophy with Respiratory Distress 1 IGHMBP2 3042 95% Choriodal Dystrophy, Central Areolar 2 IGIP 166 100% . IGJ 496 100% . IGLL1 978 91% . IGLL5 867 59% . IGLON5 1043 85% . IGSF1 4570 100% . IGSF10 9857 100% . IGSF11 1377 100% . IGSF21 1444 95% . IGSF22 4069 73% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 274

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IGSF3 3689 100% . IGSF5 1260 93% . IGSF6 750 100% . IGSF8 1866 96% . IGSF9 3767 88% . IGSF9B 4126 99% . IHH 1248 100% Brachydactyly Type A1 IHH 1248 100% Choriodal Dystrophy, Central Areolar 2 IK 1754 100% . IKBIP 2666 100% . IKBKAP 4143 100% Familial Dysautonomia IKBKAP 4143 100% Choriodal Dystrophy, Central Areolar 2 IKBKB 2705 95% . IKBKE 2441 94% . IKBKG 1710 35% Incontinentia Pigmenti IKBKG 1710 35% Hypohidrotic Ectodermal Dysplasia with Immune Deficiency IKBKG 1710 35% Familial Atypical Mycobacteriosis, X-Linked 1 IKBKG 1710 35% Immunodeficiency without Anhidrotic Ectodermal Dysplasia IKBKG 1710 35% Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema IKBKG 1710 35% Choriodal Dystrophy, Central Areolar 2 IKZF1 1727 100% . IKZF2 1880 100% . IKZF3 1562 100% . IKZF4 1790 98% . IKZF5 1272 100% . IL10 557 100% . IL10RA 1765 96% Inflammatory Bowel Disease 28, Autosomal Recessive IL10RB 1006 95% Inflammatory Bowel Disease 25, Autosomal Recessive IL11 620 41% . IL11RA 1426 100% . IL12A 790 100% . IL12B 1011 100% Familial Atypical Mycobacteriosis, IL12B-Related IL12B 1011 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 275

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IL12RB1 2186 94% Familial Atypical Mycobacteriosis, IL12RB1-Related IL12RB1 2186 94% Choriodal Dystrophy, Central Areolar 2 IL12RB2 2649 100% . IL13 457 100% . IL13RA1 1328 93% . IL13RA2 1179 100% . IL15 513 100% . IL15RA 1031 91% . IL16 5301 100% . IL17A 480 100% . IL17B 555 100% . IL17C 606 100% . IL17D 617 52% . IL17F 504 100% . IL17RA 2653 84% . IL17RB 1553 97% . IL17RC 2774 99% . IL17RD 2272 95% . IL17RE 3134 71% . IL17REL 1055 76% . IL18 602 100% . IL18BP 1061 100% . IL18R1 1666 100% . IL18RAP 1840 100% . IL19 822 93% . IL1A 840 100% . IL1B 834 100% . IL1F10 475 100% . IL1R1 1750 100% . IL1R2 1229 100% . IL1RAP 2669 100% . IL1RAPL1 2131 100% X-Linked Mental Retardation 21 IL1RAPL2 2101 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 276

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IL1RL1 1895 100% . IL1RL2 1772 100% . IL1RN 871 100% Interleukin 1 Receptor Antagonist Deficiency IL2 478 100% . IL20 551 100% . IL20RA 1690 95% . IL20RB 964 100% . IL21 591 100% . IL21R 1788 97% . IL22 560 100% . IL22RA1 1753 100% . IL22RA2 970 100% . IL23A 586 100% . IL23R 1930 100% . IL24 939 100% . IL25 837 100% . IL26 536 100% . IL27 752 99% . IL27RA 1967 96% . IL28A 627 100% . IL28B 611 100% . IL28RA 3123 93% . IL29 623 100% . IL2RA 851 100% Interleukin 2 Receptor Alpha Chain Deficiency IL2RB 1692 95% . IL2RG 1142 100% X-Linked Severe Combined Immunodeficiency IL2RG 1142 100% Choriodal Dystrophy, Central Areolar 2 IL3 479 100% . IL31 507 100% . IL31RA 3022 100% . IL32 1331 100% . IL33 841 100% . IL34 919 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 277

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IL36A 493 100% . IL36B 732 100% . IL36G 526 100% . IL36RN 484 100% . IL37 748 100% . IL3RA 2362 50% . IL4 478 100% . IL4I1 1815 82% . IL4R 2532 99% . IL5 421 100% . IL5RA 1571 100% . IL6 659 100% . IL6R 1698 95% . IL6ST 3032 100% . IL7 558 100% . IL7R 1412 100% Severe Combined Immune Deficiency, Autosomal Recessive, TCell -Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related IL8 316 100% . IL9 455 100% . IL9R 3204 44% . ILDR1 1537 99% . ILDR2 1960 78% . ILF2 1229 100% . ILF3 2987 100% . ILK 1407 100% . ILKAP 1227 95% . ILVBL 1959 94% . IMMP1L 521 100% . IMMP2L 548 100% . IMMT 2579 98% . IMP3 559 100% . IMP4 912 94% . IMP5 2059 100% . IMPA1 1294 88% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 278

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IMPA2 899 89% . IMPACT 1007 96% . IMPAD1 1100 95% Chondrodysplasia with Joint Dislocations, GRAPP Type IMPDH1 2146 79% Retinitis Pigmentosa, Autosomal Dominant IMPDH1 2146 79% Leber Congenital Amaurosis IMPDH1 2146 79% Retinitis Pigmentosa IMPDH1 2146 79% IMPDH1-Related Retinitis Pigmentosa IMPDH1 2146 79% IMPDH1-Related Leber Congenital Amaurosis IMPDH2 1601 96% . IMPG1 2462 100% . IMPG2 3802 100% Retinitis Pigmentosa, Autosomal Recessive IMPG2 3802 100% Retinitis Pigmentosa IMPG2 3802 100% IMPG2-Related Retinitis Pigmentosa INA 1512 82% . INADL 5574 100% . INCA1 936 100% . INCENP 2829 88% . INF2 3913 84% Focal Segmental Glomerulosclerosis 5 ING1 2133 99% . ING2 851 88% . ING3 1321 100% . ING4 1080 100% . ING5 755 95% . INHA 1109 93% . INHBA 1289 100% . INHBB 1232 76% . INHBC 1067 100% . INHBE 1061 100% . INMT 1016 100% . INO80 4811 100% . INO80B 1091 91% . INO80C 715 84% . INO80D 3120 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 279

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) INO80E 763 73% . INPP1 1220 100% . INPP4A 3475 100% . INPP4B 2867 100% . INPP5A 1299 94% . INPP5B 2834 100% . INPP5D 3768 89% . INPP5E 1975 66% Joubert Syndrome and Related Disorders INPP5E 1975 66% INPP5E-Related Joubert Syndrome INPP5F 3651 99% . INPP5J 1969 85% . INPP5K 1508 95% . INPPL1 3889 93% . INS 341 93% Permanent Neonatal Diabetes Mellitus INS 341 93% INS-Related Permanent Neonatal Diabetes Mellitus INS 341 93% INS-Related Maturity-Onset Diabetes of the Young Type 1 INS 341 93% Maturity-Onset Diabetes of the Young Type 1 INSC 1897 99% . INSIG1 1659 95% . INSIG2 698 100% . INS-IGF2 615 68% . INSL3 404 52% . INSL4 428 100% . INSL5 416 100% . INSL6 650 100% . INSM1 1537 75% . INSM2 1705 86% . INSR 4237 96% Donohue Syndrome INSR 4237 96% Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, and Somatic Abnormalities INSR 4237 96% Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans INSR 4237 96% Choriodal Dystrophy, Central Areolar 2 INSRR 4013 98% . INTS1 6761 85% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 280

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) INTS10 2201 99% . INTS12 1413 100% . INTS2 3715 100% . INTS3 3249 100% . INTS4 2984 100% . INTS5 3068 97% . INTS6 3023 100% . INTS7 3209 100% . INTS8 3096 97% . INTS9 2177 100% . INTU 2893 100% . INVS 4706 100% Nephronophthisis 2 IP6K1 1532 100% . IP6K2 2928 94% . IP6K3 1253 100% . IPCEF1 1426 100% . IPMK 1275 100% . IPO11 3316 96% . IPO13 2972 97% . IPO4 3366 98% . IPO5 3456 100% . IPO7 3217 99% . IPO8 3242 99% . IPO9 3222 98% . IPP 2118 100% . IPPK 1528 96% . IQCA1 2545 98% . IQCB1 1849 100% Senior-Loken Syndrome IQCB1 1849 100% Senior-Loken Syndrome 5 IQCC 1947 73% . IQCD 1052 100% . IQCE 2176 98% . IQCF1 634 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 281

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IQCF2 507 100% . IQCF3 477 100% . IQCF5 455 100% . IQCF6 328 100% . IQCG 1372 100% . IQCH 3296 96% . IQCJ 736 100% . IQCJ-SCHIP1 1784 81% . IQCK 900 97% . IQGAP1 5126 99% . IQGAP2 4872 100% . IQGAP3 5048 100% . IQSEC1 4065 82% . IQSEC2 5627 51% . IQSEC3 4776 92% . IQUB 2424 100% . IRAK1 2590 93% . IRAK1BP1 799 100% . IRAK2 1930 99% . IRAK3 1839 93% . IRAK4 1614 100% IRAK4 Deficiency IREB2 2980 100% . IRF1 1014 100% . IRF2 1082 100% . IRF2BP1 1759 94% . IRF2BP2 2824 72% . IRF2BPL 2395 77% . IRF3 2033 89% . IRF4 1537 91% . IRF5 1887 100% . IRF6 1641 100% van der Woude Syndrome IRF6 1641 100% Cleft Lip +/- Cleft Palate IRF6 1641 100% Popliteal Pterygium Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 282

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) IRF6 1641 100% IRF6-Related Disorders IRF6 1641 100% Orofacial Cleft 6, Susceptibility to IRF6 1641 100% Choriodal Dystrophy, Central Areolar 2 IRF7 1837 78% . IRF8 1313 100% . IRF9 1214 100% . IRGC 1396 100% . IRGM 550 0% . IRGQ 1880 98% . IRS1 3733 100% . IRS2 4025 51% . IRS4 3778 100% . IRX1 1459 87% . IRX2 1432 78% . IRX3 1522 58% . IRX4 1580 57% . IRX5 2265 81% . IRX6 1365 99% . ISCA1 406 82% . ISCA2 481 84% . ISCU 567 89% Myopathy with Deficiency of ISCU ISG15 506 100% . ISG20 558 100% . ISG20L2 1074 100% . ISL1 1074 100% . ISL2 1104 98% . ISLR 1291 100% . ISLR2 2242 98% . ISM1 1419 90% . ISM2 2266 94% . ISOC1 917 93% . ISOC2 809 92% . ISPD 1396 81% Congenital Muscular Dystrophy UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 283

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ISPD 1396 81% ISPD-Related Muscle Diseases IST1 1119 100% . ISX 754 98% . ISY1 972 92% . ISY1-RAB43 1090 99% . ISYNA1 1854 89% . ITCH 2681 100% . ITFG1 1911 98% . ITFG2 1392 99% . ITFG3 1703 100% . ITGA1 3656 98% . ITGA10 3624 97% . ITGA11 3687 96% . ITGA2 3666 100% Glycoprotein 1a Deficiency ITGA2 3666 100% Choriodal Dystrophy, Central Areolar 2 ITGA2B 3240 93% Thrombasthenia of Glanzmann and Naegeli, ITGA2B-Related ITGA2B 3240 93% Choriodal Dystrophy, Central Areolar 2 ITGA3 3416 94% . ITGA4 3211 100% . ITGA5 3270 100% . ITGA6 3488 100% Epidermolysis Bullosa with Pyloric Atresia ITGA6 3488 100% ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia ITGA6 3488 100% Choriodal Dystrophy, Central Areolar 2 ITGA7 3785 95% Congenital Muscular Dystrophy due to Integrin Alpha-7 Deficiency ITGA7 3785 95% Congenital Muscular Dystrophy ITGA7 3785 95% Choriodal Dystrophy, Central Areolar 2 ITGA8 3312 98% . ITGA9 3220 94% . ITGAD 3606 98% . ITGAE 3664 97% . ITGAL 3698 99% . ITGAM 3799 99% . ITGAV 3318 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 284

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ITGAX 3612 98% . ITGB1 2536 100% . ITGB1BP1 627 100% . ITGB1BP2 1088 98% . ITGB1BP3 721 86% . ITGB2 2370 99% Leukocyte Adhesion Deficiency, Type 1 ITGB2 2370 99% Choriodal Dystrophy, Central Areolar 2 ITGB3 2427 97% Thrombasthenia of Glanzmann and Naegeli, ITGB3-Related ITGB3 2427 97% Choriodal Dystrophy, Central Areolar 2 ITGB3BP 566 100% . ITGB4 5788 95% Epidermolysis Bullosa with Pyloric Atresia ITGB4 5788 95% ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia ITGB4 5788 95% Choriodal Dystrophy, Central Areolar 2 ITGB5 2460 97% . ITGB6 2427 100% . ITGB7 2453 95% . ITGB8 2366 100% . ITGBL1 1529 88% . ITIH1 3112 99% . ITIH2 2925 100% . ITIH3 2761 100% . ITIH4 2889 99% . ITIH5 3288 99% . ITIH6 3994 97% . ITK 1931 100% Lymphoproliferative Syndrome, EBV-Associated, Autosomal, 1 ITLN1 970 100% . ITLN2 1010 99% . ITM2A 816 98% . ITM2B 825 93% . ITM2C 828 92% . ITPA 687 100% . ITPK1 1333 88% . ITPKA 1414 63% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 285

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ITPKB 2869 100% . ITPKC 2080 92% . ITPR1 8702 100% Spinocerebellar Ataxia Type15 ITPR2 8334 100% . ITPR3 8248 98% . ITPRIP 1648 100% . ITPRIPL1 5102 100% . ITPRIPL2 1612 94% . ITSN1 5328 100% . ITSN2 5478 100% . IVD 1329 100% Isovaleric Acidemia IVD 1329 100% Choriodal Dystrophy, Central Areolar 2 IVL 1762 56% . IVNS1ABP 1981 100% . IWS1 2516 99% . IYD 1431 100% Congenital Hypothyroidism, IYD-Related IYD 1431 100% Congenital Hypothyroidism IZUMO1 1089 100% . IZUMO2 694 96% . IZUMO4 739 100% . JAG1 3761 98% JAG1-Related Alagille Syndrome JAG1 3761 98% Isolated Nonsyndromic Congenital Heart Disease/Defects JAG1 3761 98% Alagille Syndrome JAG1 3761 98% Choriodal Dystrophy, Central Areolar 2 JAG2 3821 78% . JAGN1 560 96% . JAK1 3561 100% . JAK2 3491 100% Budd-Chiari Syndrome JAK2 3491 100% JAK2-Related Budd-Chiari Syndrome JAK3 3467 84% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell -Positive, NK Cell-Negative, JAK3-Related JAKMIP1 2829 95% . JAKMIP2 2513 100% . JAKMIP3 2619 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 286

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) JAM2 937 94% . JAM3 1104 91% . JARID2 3813 99% . JAZF1 752 100% . JDP2 769 95% . JHDM1D 2906 100% . JKAMP 1060 100% . JMJD1C 8074 100% . JMJD4 1655 94% . JMJD5 1930 95% . JMJD6 1413 100% . JMJD7 983 98% . JMJD7-PLA2G4B 3355 99% . JMJD8 894 78% . JMY 3007 79% . JOSD1 625 100% . JOSD2 583 85% . JPH1 2006 100% . JPH2 2126 67% . JPH3 2267 84% Huntington Disease-Like 2 JPH3 2267 84% Choriodal Dystrophy, Central Areolar 2 JPH4 1907 59% . JRK 3520 59% . JRKL 1579 85% . JSRP1 1020 76% . JTB 461 100% . JUN 1000 100% . JUNB 1048 82% . JUND 1048 50% . JUP 2290 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy JUP 2290 97% Naxos Disease JUP 2290 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12 JUP 2290 97% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 287

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KAAG1 441 100% . KAL1 2099 93% Kallmann Syndrome 1 KAL1 2099 93% Kallmann Syndrome KAL1 2099 93% Choriodal Dystrophy, Central Areolar 2 KALRN 9357 99% . KANK1 6768 100% . KANK2 2755 99% . KANK3 2506 48% . KANK4 3024 100% . KANSL2 1515 100% . KANSL3 2892 98% . KARS 2000 100% KARS-Related Intermediate Charcot-Marie-Tooth Neuropathy KAT2A 2586 87% . KAT2B 2571 95% . KAT5 2057 86% . KAT6A 6079 100% . KAT6B 6286 100% KAT6B-Related Disorders KAT7 1896 100% . KAT8 1764 87% . KATNA1 1719 100% . KATNAL1 1513 100% . KATNAL2 1457 100% . KATNB1 2044 94% . KAZALD1 931 99% . KAZN 3012 91% . KBTBD10 1845 100% . KBTBD11 1876 15% . KBTBD12 1892 100% . KBTBD13 1381 42% Nemaline Myopathy KBTBD13 1381 42% KBTBD13-Related Nemaline Myopathy KBTBD2 1884 100% . KBTBD3 1847 100% . KBTBD4 2243 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 288

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KBTBD5 1890 99% . KBTBD6 2029 100% . KBTBD7 2059 100% . KBTBD8 1822 99% . KCMF1 1174 98% . KCNA1 1492 100% Episodic Ataxia Type 1 KCNA1 1492 100% Choriodal Dystrophy, Central Areolar 2 KCNA1 1492 100% Myokymia 1 with or without Hypomagnesemia KCNA10 1540 100% . KCNA2 3008 100% . KCNA3 1732 96% . KCNA4 1966 100% . KCNA5 1846 90% Familial Atrial Fibrillation KCNA5 1846 90% KCNA5-Related Familial Atrial Fibrillation KCNA6 1594 100% . KCNA7 1379 95% . KCNAB1 1787 100% . KCNAB2 1164 84% . KCNAB3 1271 87% . KCNB1 2585 97% . KCNB2 2744 100% . KCNC1 2776 90% . KCNC2 1999 100% . KCNC3 2290 66% Spinocerebellar Ataxia Type13 KCNC4 1990 98% . KCND1 1968 88% . KCND2 1917 100% . KCND3 1996 97% . KCNE1 394 100% Romano-Ward Syndrome KCNE1 394 100% Jervell and Lange-Nielsen Syndrome KCNE1 394 100% Long QT Syndrome 5 KCNE1L 433 75% . KCNE2 376 100% Romano-Ward Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 289

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KCNE2 376 100% Long QT Syndrome 6 KCNE2 376 100% Familial Atrial Fibrillation KCNE2 376 100% KCNE2-Related Familial Atrial Fibrillation KCNE3 316 100% Brugada Syndrome KCNE3 316 100% KCNE3-Related Hypokalemic Periodic Paralysis KCNE3 316 100% Brugada Syndrome 6 KCNE4 517 100% . KCNF1 1489 99% . KCNG1 1550 91% . KCNG2 1409 88% . KCNG3 1988 89% . KCNG4 1568 100% . KCNH1 3492 100% . KCNH2 4447 73% Romano-Ward Syndrome KCNH2 4447 73% Long QT Syndrome 2 KCNH2 4447 73% Short QT Syndrome KCNH2 4447 73% Short QT Syndrome 1 KCNH2 4447 73% Choriodal Dystrophy, Central Areolar 2 KCNH3 3312 98% . KCNH4 3118 93% . KCNH5 4125 100% . KCNH6 3849 100% . KCNH7 3991 100% . KCNH8 3388 100% . KCNIP1 812 100% . KCNIP2 1372 81% . KCNIP3 914 98% . KCNIP4 1182 100% . KCNJ1 2328 100% Antenatal Bartter Syndrome Type 2 KCNJ10 1144 100% Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome KCNJ10 1144 100% KCNJ10-Related Pendred Syndrome KCNJ10 1144 100% Pendred Syndrome/DFNB4 KCNJ11 2354 100% Familial Hyperinsulinism UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 290

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KCNJ11 2354 100% KCNJ11-Related Hyperinsulinism KCNJ11 2354 100% Permanent Neonatal Diabetes Mellitus KCNJ11 2354 100% Diabetes Mellitus, KCNJ11-Related Transient Neonatal KCNJ11 2354 100% KCNJ11-Related Permanent Neonatal Diabetes Mellitus KCNJ11 2354 100% KCNJ11-Related Susceptibility to Noninsulin-Dependent Diabetes Mellitus KCNJ11 2354 100% Choriodal Dystrophy, Central Areolar 2 KCNJ12 1306 100% . KCNJ13 2646 100% Leber Congenital Amaurosis KCNJ13 2646 100% KCNJ13-Related Leber Congenital Amaurosis KCNJ14 1319 71% . KCNJ15 1132 100% . KCNJ16 1261 100% . KCNJ18 1306 100% . KCNJ2 1288 100% Andersen Syndrome Type 1 KCNJ2 1288 100% Andersen-Tawil Syndrome KCNJ2 1288 100% Short QT Syndrome KCNJ2 1288 100% Short QT Syndrome 3 KCNJ2 1288 100% KCNJ2-Related Familial Atrial Fibrillation KCNJ2 1288 100% Choriodal Dystrophy, Central Areolar 2 KCNJ3 1518 100% . KCNJ4 1342 100% . KCNJ5 1268 100% Romano-Ward Syndrome KCNJ5 1268 100% Long QT Syndrome 13 KCNJ5 1268 100% Hyperaldosteronism, Familial, Type III KCNJ6 1284 100% . KCNJ8 1283 100% . KCNJ9 1190 80% . KCNK1 1023 99% . KCNK10 1757 100% . KCNK12 1301 63% . KCNK13 1235 78% . KCNK15 1001 88% . KCNK16 2001 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 291

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KCNK17 1151 75% . KCNK18 1167 100% . KCNK2 1352 100% . KCNK3 1193 88% . KCNK4 1206 83% . KCNK5 1520 97% . KCNK6 954 87% . KCNK7 1496 97% . KCNK9 1133 100% Birk-Barel Mental Retardation Dysmorphism Syndrome KCNMA1 4249 99% Generalized Epilepsy and Paroxysmal Dyskinesia KCNMB1 588 100% . KCNMB2 724 100% . KCNMB3 1309 100% . KCNMB4 645 100% . KCNN1 1668 97% . KCNN2 1918 100% . KCNN3 2250 100% . KCNN4 1316 100% . KCNQ1 2095 85% Romano-Ward Syndrome KCNQ1 2095 85% Jervell and Lange-Nielsen Syndrome KCNQ1 2095 85% Beckwith-Wiedemann Syndrome KCNQ1 2095 85% Long QT Syndrome 1 KCNQ1 2095 85% Familial Atrial Fibrillation KCNQ1 2095 85% Short QT Syndrome KCNQ1 2095 85% Short QT Syndrome 2 KCNQ1 2095 85% KCNQ1-Related Familial Atrial Fibrillation KCNQ1 2095 85% Choriodal Dystrophy, Central Areolar 2 KCNQ2 3252 87% Benign Familial Neonatal Seizures KCNQ2 3252 87% Benign Neonatal Epilepsy 1 KCNQ2 3252 87% Epileptic Encephalopathy, Early Infantile, 7 KCNQ3 2679 94% Benign Familial Neonatal Seizures KCNQ3 2679 94% Benign Neonatal Epilepsy 2 KCNQ4 2144 87% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 292

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KCNQ4 2144 87% DFNA 2 Nonsyndromic Hearing Loss KCNQ5 2916 93% . KCNRG 1174 91% . KCNS1 1593 77% . KCNS2 1438 100% . KCNS3 1480 100% . KCNT1 3832 86% . KCNT2 3520 100% . KCNU1 3558 100% . KCNV1 1515 92% . KCNV2 1646 99% Retinal Cone Dystrophy 3B KCP 5611 33% . KCTD1 2801 36% . KCTD10 970 100% . KCTD11 703 100% . KCTD12 982 85% . KCTD13 1014 99% . KCTD14 776 100% . KCTD15 888 72% . KCTD16 1295 100% . KCTD17 926 77% . KCTD18 1305 100% . KCTD19 2845 100% . KCTD2 816 82% . KCTD20 1288 100% . KCTD21 787 100% . KCTD3 2520 97% . KCTD4 784 100% . KCTD5 729 86% . KCTD6 722 100% . KCTD7 1272 94% Progressive Myoclonic Epilepsy 3 KCTD8 1430 99% . KCTD9 1218 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 293

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KDELC1 1549 100% . KDELC2 1556 88% . KDELR1 659 81% . KDELR2 1048 100% . KDELR3 1040 100% . KDM1A 2715 92% . KDM1B 1837 100% . KDM2A 3569 100% . KDM2B 4378 99% . KDM3A 4066 100% . KDM3B 5382 96% . KDM4A 3279 100% . KDM4B 3375 86% . KDM4C 3909 98% . KDM4D 1576 100% . KDM4DL 1525 63% . KDM5A 5185 100% . KDM5B 4743 100% . KDM5C 5172 95% X-Linked Syndromic Mental Retardation, Claes-Jensen Type KDM5D 4821 95% . KDM6A 4322 98% . KDM6B 5125 91% . KDR 4191 100% . KDSR 1039 100% . KEAP1 1895 97% . KEL 2275 99% . KERA 1067 100% . KHDC1 623 100% . KHDC1L 399 100% . KHDRBS1 1368 84% . KHDRBS2 1086 100% . KHDRBS3 1077 98% . KHK 1068 94% Fructosuria, Essential UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 294

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KHNYN 2065 99% . KHSRP 2216 77% . KIAA0020 2015 100% . KIAA0040 304 0% . KIAA0090 3074 100% . KIAA0100 6864 100% . KIAA0101 452 100% . KIAA0141 1596 99% . KIAA0146 2828 81% . KIAA0182 3922 94% . KIAA0195 4195 100% . KIAA0196 3592 100% Spastic Paraplegia 8 KIAA0226 3206 98% . KIAA0226L 2041 100% . KIAA0232 4220 100% . KIAA0240 3284 100% . KIAA0247 932 100% . KIAA0284 4963 83% . KIAA0317 2544 100% . KIAA0319 4442 99% . KIAA0319L 3230 100% . KIAA0355 3265 99% . KIAA0368 6258 96% . KIAA0391 1780 100% . KIAA0408 2105 100% . KIAA0415 2492 90% . KIAA0430 6197 100% . KIAA0494 1532 100% . KIAA0513 1284 99% . KIAA0528 3099 100% . KIAA0556 4969 99% . KIAA0564 6062 97% . KIAA0586 5355 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 295

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KIAA0664 4030 93% . KIAA0748 1602 100% . KIAA0753 2976 98% . KIAA0754 4288 96% . KIAA0825 4588 90% . KIAA0889 6692 82% . KIAA0895 2604 100% . KIAA0895L 1440 84% . KIAA0907 1901 100% . KIAA0913 6315 99% . KIAA0922 5074 96% . KIAA0930 1338 92% . KIAA0947 6877 99% . KIAA1009 4316 100% . KIAA1024 2763 100% . KIAA1033 3654 98% . KIAA1045 1231 99% . KIAA1107 4097 100% . KIAA1109 15354 100% . KIAA1143 477 100% . KIAA1147 1404 81% . KIAA1161 2149 100% . KIAA1191 1129 100% . KIAA1199 4198 99% . KIAA1210 5186 100% . KIAA1211 3734 87% . KIAA1217 6204 100% . KIAA1239 5257 99% . KIAA1244 6670 99% . KIAA1257 1258 100% . KIAA1267 3503 99% . KIAA1274 2647 97% . KIAA1279 1894 100% Goldberg-Shprintzen Megacolon Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 296

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KIAA1324 3130 99% . KIAA1324L 3303 91% . KIAA1328 1774 97% . KIAA1377 3398 100% . KIAA1383 3148 100% . KIAA1407 2879 100% . KIAA1429 6192 100% . KIAA1430 1615 100% . KIAA1432 4574 100% . KIAA1456 2418 100% . KIAA1462 4092 100% . KIAA1467 1921 98% . KIAA1468 3767 97% . KIAA1522 3375 91% . KIAA1524 2802 100% . KIAA1530 2182 98% . KIAA1549 6192 97% . KIAA1586 2380 91% . KIAA1598 2191 100% . KIAA1609 1399 100% . KIAA1614 3609 94% . KIAA1644 616 100% . KIAA1671 5461 18% . KIAA1683 10452 100% . KIAA1704 1055 100% . KIAA1715 1335 100% . KIAA1731 7922 100% . KIAA1737 1212 100% . KIAA1751 2357 100% . KIAA1755 3659 99% . KIAA1797 5578 100% . KIAA1804 3151 82% . KIAA1826 1046 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 297

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KIAA1841 2337 100% . KIAA1919 1573 98% . KIAA1958 2163 100% . KIAA1967 2852 95% . KIAA1984 1661 83% . KIAA2013 1917 77% . KIAA2018 6758 100% . KIAA2022 4563 100% KIAA2022-Related X-Linked Mental Retardation KIAA2026 6344 100% . KIDINS220 5432 100% . KIF11 3259 100% . KIF12 1598 87% . KIF13A 6440 100% . KIF13B 5641 92% . KIF14 5063 100% . KIF15 4307 100% . KIF16B 4058 100% . KIF17 3225 97% . KIF18A 2761 100% . KIF18B 2628 100% . KIF19 3077 93% . KIF1A 5257 94% Hereditary Sensory and Autonomic Neuropathy Type II KIF1A 5257 94% Hereditary Sensory and Autonomic Neuropathy Type IIC KIF1A 5257 94% Mental Retardation, Autosomal Dominant 9 KIF1A 5257 94% Spastic Paraplegia 30 KIF1B 6986 100% Charcot-Marie-Tooth Neuropathy Type 2 KIF1B 6986 100% Charcot-Marie-Tooth Neuropathy Type 2A1 KIF1B 6986 100% Charcot-Marie-Tooth Neuropathy Type 2A KIF1B 6986 100% Neuroblastoma, Susceptibility KIF1B 6986 100% KIF1B-Related Neuroblastoma, Susceptibility KIF1B 6986 100% KIF1B-Related Pheochromocytoma KIF1C 3396 97% . KIF20A 2745 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 298

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KIF20B 5471 100% . KIF21A 5177 99% Congenital Fibrosis of the Extraocular Muscles KIF21A 5177 99% KIF21A-Related Congenital Fibrosis of the Extraocular Muscles KIF21B 5011 99% . KIF22 2254 98% . KIF23 2975 100% . KIF24 4155 100% . KIF25 1187 85% . KIF26A 5709 72% . KIF26B 6387 91% . KIF27 4274 100% . KIF2A 2446 97% . KIF2B 2026 100% . KIF2C 2262 100% . KIF3A 2168 100% . KIF3B 2276 100% . KIF3C 2414 100% . KIF4A 3819 99% . KIF4B 3709 100% . KIF5A 3211 100% Spastic Paraplegia 10 KIF5B 2992 100% . KIF5C 2974 97% . KIF6 2537 98% . KIF7 4104 82% Joubert Syndrome and Related Disorders KIF7 4104 82% KIF7-Related Joubert Syndrome KIF7 4104 82% Acrocallosal Syndrome KIF9 2453 100% . KIFAP3 2595 100% . KIFC1 2066 100% . KIFC2 2585 81% . KIFC3 2731 89% . KIN 1234 100% . KIR2DL1 1079 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 299

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KIR2DL3 1058 90% . KIR2DL4 1222 66% . KIR2DS4 925 77% . KIR3DL1 1371 91% . KIR3DL2 1404 76% . KIR3DL3 1265 53% . KIRREL 2334 98% . KIRREL2 2999 97% . KIRREL3 2731 98% . KISS1 425 81% . KISS1R 1217 40% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency KISS1R 1217 40% KISS1R-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency KISS1R 1217 40% Central Precocious Puberty KIT 3213 100% Gastrointestinal Stromal Tumor KIT 3213 100% Piebald Trait, KIT-Related KIT 3213 100% Mast Cell Disease KIT 3213 100% Choriodal Dystrophy, Central Areolar 2 KITLG 858 100% . KL 3059 95% Hyperphosphatemic Familial Tumoral Calcinosis, KL-Related KLB 3155 100% . KLC1 2031 98% . KLC2 1929 100% . KLC3 1563 69% . KLC4 2495 100% . KLF1 1101 54% . KLF10 1466 100% . KLF11 1829 97% Maturity-Onset Diabetes of the Young Type 7 KLF12 1237 100% . KLF13 875 48% . KLF14 976 51% . KLF15 1259 88% . KLF16 767 27% . KLF17 1182 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 300

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KLF2 1080 33% . KLF3 1058 100% . KLF4 1460 90% . KLF5 1390 81% . KLF6 1502 100% . KLF7 925 100% . KLF8 1290 99% . KLF9 743 99% . KLHDC1 1273 99% . KLHDC10 1369 89% . KLHDC2 1273 99% . KLHDC3 1189 100% . KLHDC4 1607 95% . KLHDC5 1530 93% . KLHDC7A 2338 100% . KLHDC7B 1789 82% . KLHDC8A 1073 100% . KLHDC8B 1085 98% . KLHDC9 1307 93% . KLHL1 2291 100% . KLHL10 1847 100% . KLHL11 2135 99% . KLHL12 1751 95% . KLHL13 2395 89% . KLHL14 1919 100% . KLHL15 1823 100% . KLHL17 1977 85% . KLHL18 1765 95% . KLHL2 2010 96% . KLHL20 1874 100% . KLHL21 1810 64% . KLHL22 1929 100% . KLHL23 1689 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 301

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KLHL24 1827 100% . KLHL25 1774 100% . KLHL26 1860 95% . KLHL28 1732 100% . KLHL29 2676 92% . KLHL3 1824 100% Pseudohypoaldosteronism Type IID KLHL30 1765 92% . KLHL31 1913 100% . KLHL32 1903 100% . KLHL33 1614 95% . KLHL34 1939 65% . KLHL35 1776 48% . KLHL36 1867 95% . KLHL38 1758 100% . KLHL4 2271 100% . KLHL5 3024 100% . KLHL6 1894 100% . KLHL7 1975 100% Retinitis Pigmentosa, Autosomal Dominant KLHL7 1975 100% Retinitis Pigmentosa KLHL7 1975 100% KLHL7-Related Retinitis Pigmentosa KLHL8 1899 100% . KLHL9 1858 100% . KLK1 809 100% . KLK10 851 79% . KLK11 1533 92% . KLK12 1149 94% . KLK13 854 93% . KLK14 828 75% . KLK15 1236 96% . KLK2 1472 99% . KLK3 1360 100% . KLK4 785 92% Amelogenesis Imperfecta, Hypomaturation Type, IIA1 KLK5 902 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 302

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KLK6 1007 100% . KLK7 1011 85% . KLK8 1397 98% . KLK9 773 95% . KLKB1 1973 100% . KLLN 541 0% . KLRB1 702 100% . KLRC1 726 100% . KLRC2 720 100% . KLRC3 1038 86% . KLRC4 493 100% . KLRC4-KLRK1 679 100% . KLRD1 564 100% . KLRF1 723 100% . KLRF2 648 0% . KLRG1 590 100% . KLRG2 1250 63% . KLRK1 679 100% . KMO 1521 100% . KNCN 318 82% . KNDC1 5370 84% . KNG1 2874 100% . KNTC1 6882 99% . KPNA1 1669 100% . KPNA2 1630 100% . KPNA3 1634 100% . KPNA4 1634 100% . KPNA5 1676 100% . KPNA6 1667 100% . KPNA7 1591 100% . KPNB1 2719 99% . KPRP 1744 100% . KPTN 1359 85% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 303

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KRAS 707 100% Cardiofaciocutaneous Syndrome KRAS 707 100% Noonan Syndrome KRAS 707 100% KRAS-Related Noonan Syndrome KRAS 707 100% KRAS-Related Cardiofaciocutaneous Syndrome KRBA1 3156 97% . KRBA2 1487 100% . KRCC1 784 100% . KREMEN1 1918 95% . KREMEN2 1798 47% . KRI1 2206 93% . KRIT1 2275 100% Familial Cerebral Cavernous Malformation KRIT1 2275 100% Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas KRIT1 2275 100% Familial Cerebral Cavernous Malformation 1 KRIT1 2275 100% Choriodal Dystrophy, Central Areolar 2 KRR1 1186 100% . KRT1 1971 100% KRT1-Related Epidermolytic Hyperkeratosis KRT1 1971 100% Nonepidermolytic Palmoplantar Hyperkeratosis KRT1 1971 100% Choriodal Dystrophy, Central Areolar 2 KRT10 1787 96% KRT10-Related Epidermolytic Hyperkeratosis KRT10 1787 96% Choriodal Dystrophy, Central Areolar 2 KRT12 1517 100% . KRT13 1520 87% White Sponge Nevus of Cannon, KRT13-Related KRT13 1520 87% Choriodal Dystrophy, Central Areolar 2 KRT14 1451 93% Epidermolysis Bullosa Simplex, Dowling-Meara Type KRT14 1451 93% Epidermolysis Bullosa Simplex, Other Generalized KRT14 1451 93% Epidermolysis Bullosa Simplex, Localized KRT14 1451 93% Epidermolysis Bullosa Simplex KRT14 1451 93% Choriodal Dystrophy, Central Areolar 2 KRT15 1403 100% . KRT16 1454 100% Pachyonychia Congenita Type 1 KRT16 1454 100% Nonepidermolytic Palmoplantar Hyperkeratosis KRT16 1454 100% Pachyonychia Congenita KRT16 1454 100% KRT16-Related Pachyonychia Congenita UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 304

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KRT16 1454 100% Choriodal Dystrophy, Central Areolar 2 KRT17 1331 100% Steatocystoma Multiplex KRT17 1331 100% Pachyonychia Congenita Type 2 KRT17 1331 100% Pachyonychia Congenita KRT17 1331 100% KRT17-Related Pachyonychia Congenita KRT17 1331 100% Choriodal Dystrophy, Central Areolar 2 KRT18 1321 99% . KRT19 1227 100% . KRT2 1956 100% Ichthyosis Bullosa of Siemens KRT2 1956 100% Choriodal Dystrophy, Central Areolar 2 KRT20 1307 100% . KRT222 912 100% . KRT23 1301 100% . KRT24 1610 100% . KRT25 1385 100% . KRT26 1439 100% . KRT27 1412 100% . KRT28 1427 100% . KRT3 1923 85% . KRT31 1279 100% . KRT32 1375 100% . KRT33A 1243 100% . KRT33B 1243 100% . KRT34 1339 100% . KRT35 1396 100% . KRT36 1432 100% . KRT37 1378 100% . KRT38 1399 99% . KRT39 1504 100% . KRT4 1821 100% White Sponge Nevus of Cannon, KRT4-Related KRT4 1821 100% Choriodal Dystrophy, Central Areolar 2 KRT40 1324 100% . KRT5 1809 100% Epidermolysis Bullosa Simplex, Dowling-Meara Type UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 305

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KRT5 1809 100% Epidermolysis Bullosa Simplex, Other Generalized KRT5 1809 100% Epidermolysis Bullosa Simplex, Localized KRT5 1809 100% Epidermolysis Bullosa Simplex with Mottled Pigmentation KRT5 1809 100% Epidermolysis Bullosa Simplex KRT5 1809 100% Epidermolysis Bullosa Simplex with Migratory Circinate Erythema KRT5 1809 100% Choriodal Dystrophy, Central Areolar 2 KRT6A 1731 100% Pachyonychia Congenita Type 1 KRT6A 1731 100% Pachyonychia Congenita KRT6A 1731 100% KRT6A-Related Pachyonychia Congenita KRT6A 1731 100% Choriodal Dystrophy, Central Areolar 2 KRT6B 1731 100% Pachyonychia Congenita Type 2 KRT6B 1731 100% Pachyonychia Congenita KRT6B 1731 100% KRT6B-Related Pachyonychia Congenita KRT6B 1731 100% Choriodal Dystrophy, Central Areolar 2 KRT6C 1731 99% . KRT7 1446 100% . KRT71 1608 100% . KRT72 1572 92% . KRT73 1659 100% . KRT74 1626 100% . KRT75 1692 100% . KRT76 1953 96% . KRT77 1773 99% . KRT78 1599 100% . KRT79 1644 100% . KRT8 1812 100% . KRT80 1594 96% . KRT81 1554 61% Monilethrix KRT82 1578 100% . KRT83 1518 98% Monilethrix KRT84 1839 88% . KRT85 1560 100% . KRT86 1497 77% Monilethrix UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 306

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KRT9 1900 96% Epidermolytic Palmoplantar Keratoderma KRT9 1900 96% Choriodal Dystrophy, Central Areolar 2 KRTAP10-1 853 100% . KRTAP10-10 760 100% . KRTAP10-11 901 100% . KRTAP10-12 742 100% . KRTAP10-2 772 100% . KRTAP10-3 670 100% . KRTAP10-4 1210 100% . KRTAP10-5 820 100% . KRTAP10-6 1102 100% . KRTAP10-7 1121 100% . KRTAP10-8 784 100% . KRTAP10-9 883 100% . KRTAP1-1 538 100% . KRTAP11-1 496 100% . KRTAP12-1 295 100% . KRTAP12-2 445 100% . KRTAP12-3 295 100% . KRTAP12-4 343 94% . KRTAP1-3 508 100% . KRTAP13-1 523 100% . KRTAP13-2 532 100% . KRTAP13-3 523 100% . KRTAP13-4 487 100% . KRTAP1-5 529 100% . KRTAP15-1 418 100% . KRTAP16-1 1558 99% . KRTAP17-1 322 98% . KRTAP19-1 277 100% . KRTAP19-2 163 100% . KRTAP19-3 250 100% . KRTAP19-4 259 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 307

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KRTAP19-5 223 100% . KRTAP19-6 181 100% . KRTAP19-7 196 100% . KRTAP19-8 196 100% . KRTAP20-1 175 100% . KRTAP20-2 202 100% . KRTAP20-3 139 100% . KRTAP2-1 391 11% . KRTAP21-1 244 100% . KRTAP21-2 256 100% . KRTAP21-3 181 100% . KRTAP2-2 376 1% . KRTAP22-1 151 100% . KRTAP22-2 142 100% . KRTAP23-1 202 100% . KRTAP2-4 391 8% . KRTAP24-1 769 100% . KRTAP25-1 313 100% . KRTAP26-1 637 100% . KRTAP27-1 628 100% . KRTAP3-1 301 100% . KRTAP3-2 301 100% . KRTAP3-3 301 100% . KRTAP4-1 392 100% . KRTAP4-11 592 100% . KRTAP4-12 610 100% . KRTAP4-2 415 100% . KRTAP4-3 592 100% . KRTAP4-4 505 100% . KRTAP4-5 550 100% . KRTAP4-7 472 100% . KRTAP4-8 562 100% . KRTAP4-9 637 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 308

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) KRTAP5-1 841 100% . KRTAP5-10 613 100% . KRTAP5-11 475 100% . KRTAP5-2 538 100% . KRTAP5-3 721 100% . KRTAP5-4 691 100% . KRTAP5-5 718 100% . KRTAP5-6 394 100% . KRTAP5-7 502 100% . KRTAP5-8 568 100% . KRTAP5-9 514 100% . KRTAP6-1 220 100% . KRTAP6-2 193 100% . KRTAP6-3 337 100% . KRTAP7-1 538 0% . KRTAP8-1 196 100% . KRTAP9-1 757 100% . KRTAP9-2 529 100% . KRTAP9-3 484 100% . KRTAP9-4 469 100% . KRTAP9-8 484 100% . KRTAP9-9 514 100% . KRTCAP2 509 99% . KRTCAP3 747 95% . KRTDAP 324 100% . KSR1 2361 100% . KSR2 2846 100% . KTI12 1069 100% . KTN1 4255 100% . KXD1 547 99% . KY 2030 100% . KYNU 1476 100% . L1CAM 3886 99% L1 Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 309

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) L1CAM 3886 99% Choriodal Dystrophy, Central Areolar 2 L1TD1 2606 65% . L2HGDH 1432 98% L-2-Hydroxyglutaric Aciduria L3MBTL1 2933 92% . L3MBTL2 2186 100% . L3MBTL3 2427 98% . L3MBTL4 1944 100% . LACC1 1313 100% . LACE1 1498 100% . LACRT 437 100% . LACTB 1846 82% . LACTB2 895 99% . LAD1 1594 97% . LAG3 1610 84% . LAGE3 444 69% . LAIR1 904 100% . LAIR2 479 100% . LALBA 445 98% . LAMA1 9480 100% . LAMA2 9629 99% LAMA2-Related Muscular Dystrophy LAMA2 9629 99% Congenital Muscular Dystrophy LAMA2 9629 99% Choriodal Dystrophy, Central Areolar 2 LAMA3 10477 97% LAMA3-Related Junctional Epidermolysis Bullosa LAMA3 10477 97% Junctional Epidermolysis Bullosa LAMA3 10477 97% Laryngoonychocutaneous Syndrome LAMA3 10477 97% Choriodal Dystrophy, Central Areolar 2 LAMA4 6259 100% . LAMA5 11408 83% . LAMB1 5493 100% . LAMB2 5525 100% Pierson Syndrome LAMB2 5525 100% Nephrotic Syndrome, Type 5, with or without Ocular Abnormalities LAMB3 3607 99% LAMB3-Related Junctional Epidermolysis Bullosa LAMB3 3607 99% Junctional Epidermolysis Bullosa UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 310

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LAMB3 3607 99% Choriodal Dystrophy, Central Areolar 2 LAMB4 5418 100% . LAMC1 4942 99% . LAMC2 3794 100% LAMC2-Related Junctional Epidermolysis Bullosa LAMC2 3794 100% Junctional Epidermolysis Bullosa LAMC2 3794 100% Choriodal Dystrophy, Central Areolar 2 LAMC3 4840 89% . LAMP1 1290 95% . LAMP2 1560 100% Danon Disease LAMP2 1560 100% LAMP2-Related Familial Hypertrophic Cardiomyopathy LAMP3 1275 96% . LAMP5 867 100% . LAMTOR1 506 75% . LAMTOR2 394 100% . LAMTOR3 537 100% . LANCL1 1236 100% . LANCL2 1389 88% . LANCL3 1351 77% . LAP3 1612 97% . LAPTM4A 730 100% . LAPTM4B 982 93% . LAPTM5 821 99% . LARGE 2327 100% Congenital Muscular Dystrophy LARGE 2327 100% LARGE-Related Muscle Diseases LARGE 2327 100% LARGE-Related Walker-Warburg Syndrome LARP1 3136 100% . LARP1B 3631 100% . LARP4 2616 100% . LARP4B 2285 100% . LARP6 1574 87% . LARP7 1797 100% . LARS 3659 100% . LARS2 2792 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 311

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LAS1L 2261 89% . LASP1 814 86% . LAT 1514 95% . LAT2 776 93% . LATS1 3421 100% . LATS2 3295 90% . LAX1 1262 100% . LAYN 1153 92% . LBH 330 100% . LBP 1506 100% . LBR 1900 100% Greenberg Dysplasia LBX1 854 90% . LBX2 593 100% . LCA5 2122 100% Leber Congenital Amaurosis LCA5 2122 100% LCA5-Related Leber Congenital Amaurosis LCA5L 2041 100% . LCAT 1347 88% Lecithin Cholesterol Acyltransferase Deficiency LCAT 1347 88% Choriodal Dystrophy, Central Areolar 2 LCE1A 337 100% . LCE1B 361 100% . LCE1C 361 100% . LCE1D 349 94% . LCE1E 361 100% . LCE1F 361 100% . LCE2A 325 100% . LCE2B 337 100% . LCE2C 337 100% . LCE2D 337 100% . LCE3A 274 100% . LCE3B 292 56% . LCE3C 289 56% . LCE3D 283 100% . LCE3E 283 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 312

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LCE4A 304 100% . LCE5A 361 100% . LCE6A 247 100% . LCK 1578 97% . LCLAT1 1442 100% . LCMT1 1049 100% . LCMT2 2065 100% . LCN1 806 100% . LCN10 627 97% . LCN12 603 90% . LCN15 579 83% . LCN2 621 100% . LCN6 512 100% . LCN8 487 97% . LCN9 548 94% . LCNL1 507 56% . LCOR 2299 100% . LCORL 2022 93% . LCP1 1944 100% . LCP2 1686 94% . LCT 5852 100% Lactose Intolerance, Adult Type LCT 5852 100% Lactase Deficiency, Congenital LCT 5852 100% Congenital Lactase Deficiency LCTL 1756 100% . LDB1 1387 98% . LDB2 1263 100% . LDB3 2572 100% Dilated Cardiomyopathy LDB3 2572 100% Myofibrillar Myopathy LDB3 2572 100% Zaspopathy LDB3 2572 100% LDB3-Related Dilated Cardiomyopathy LDHA 2017 97% Glycogen Storage Disease XI LDHA 2017 97% Choriodal Dystrophy, Central Areolar 2 LDHAL6A 1027 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 313

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LDHAL6B 1150 100% . LDHB 1033 100% Lactate Dehydrogenase B Deficiency LDHB 1033 100% Choriodal Dystrophy, Central Areolar 2 LDHC 1027 100% . LDHD 1841 92% . LDLR 3207 100% Familial Hypercholesterolemia LDLR 3207 100% Choriodal Dystrophy, Central Areolar 2 LDLRAD1 642 81% . LDLRAD2 839 89% . LDLRAD3 1062 95% . LDLRAP1 963 90% Familial Hypercholesterolemia, Autosomal Recessive LDOC1 445 100% . LDOC1L 724 100% . LEAP2 246 100% . LECT1 1253 100% . LECT2 472 100% . LEF1 1341 99% . LEFTY1 1117 87% . LEFTY2 1619 94% Heterotaxy Syndrome LEFTY2 1619 94% LEFTY2-Related Visceral Heterotaxy LEKR1 2147 56% . LELP1 301 100% . LEMD1 769 100% . LEMD2 1629 78% . LEMD3 2830 85% Buschke-Ollendorff Syndrome LENEP 190 100% . LENG1 811 98% . LENG8 2463 94% . LENG9 1510 76% . LEO1 2049 100% . LEP 512 100% Leptin Deficiency LEP 512 100% Monogenic Non-Syndromic Obesity, Autosomal Recessive LEPR 3852 95% Leptin Receptor Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 314

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LEPR 3852 95% Monogenic Non-Syndromic Obesity, Autosomal Recessive LEPRE1 2778 99% LEPRE1-Related Osteogenesis Imperfecta LEPREL1 2344 85% . LEPREL2 2270 77% . LEPREL4 1346 86% . LEPROT 485 81% . LEPROTL1 647 61% . LETM1 2276 96% . LETM2 1519 100% . LETMD1 1239 100% . LEUTX 515 95% . LFNG 1465 81% LFNG-Related Spondylocostal Dysostosis, Autosomal Recessive LFNG 1465 81% Spondylocostal Dysostosis LFNG 1465 81% Spondylocostal Dysostosis, Autosomal Recessive LGALS1 424 97% . LGALS12 1364 100% . LGALS13 436 100% . LGALS14 542 100% . LGALS16 445 98% . LGALS2 415 100% . LGALS3 1030 100% . LGALS3BP 1778 97% . LGALS4 1012 100% . LGALS7 427 27% . LGALS7B 427 48% . LGALS8 1120 100% . LGALS9 1112 100% . LGALS9B 1112 81% . LGALS9C 1115 88% . LGALSL 539 95% . LGI1 1706 100% Autosomal Dominant Partial Epilepsy with Auditory Features LGI2 1670 90% . LGI3 1679 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 315

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LGI4 1650 52% . LGMN 1354 100% . LGR4 2928 94% . LGR5 2796 100% . LGR6 3123 96% . LGSN 3954 100% . LHB 438 100% . LHCGR 2144 92% Male-Limited Precocious Puberty LHCGR 2144 92% Leydig Cell Hypoplasia/Agenesis LHCGR 2144 92% LH Receptor Defects LHCGR 2144 92% Hypergonadotropic Hypogonadism LHCGR 2144 92% Choriodal Dystrophy, Central Areolar 2 LHFP 615 100% . LHFPL1 675 100% . LHFPL2 695 100% . LHFPL3 723 100% . LHFPL4 756 100% . LHFPL5 672 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive LHFPL5 672 100% DFNB67 Nonsyndromic Hearing Loss and Deafness LHPP 942 82% . LHX1 1241 90% . LHX2 1241 89% . LHX3 1316 77% LHX3-Related Combined Pituitary Hormone Deficiency LHX4 1197 100% LHX4-Related Combined Pituitary Hormone Deficiency LHX5 1229 69% . LHX6 1663 71% . LHX8 1198 85% . LHX9 1424 100% . LIAS 1220 100% . LIF 621 96% . LIFR 3370 100% Stuve-Wiedemann Syndrome LIG1 2868 92% . LIG3 3164 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 316

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LIG4 2740 100% LIG4 Syndrome LIG4 2740 100% Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation LILRA1 1506 100% . LILRA2 1484 100% . LILRA3 1655 100% . LILRA4 1532 100% . LILRA5 1407 100% . LILRA6 1478 95% . LILRB1 2233 99% . LILRB2 1904 94% . LILRB3 2114 78% . LILRB4 1558 100% . LILRB5 1883 97% . LIM2 969 100% Cataract, Cortical Pulverulent, Late-onset LIMA1 3021 100% . LIMCH1 3476 98% . LIMD1 2063 100% . LIMD2 400 98% . LIME1 908 72% . LIMK1 2008 89% . LIMK2 2394 100% . LIMS1 1527 96% . LIMS2 1387 80% . LIMS3 732 0% . LIMS3L 732 0% . LIN28A 646 99% . LIN28B 769 100% . LIN37 777 100% . LIN52 375 100% . LIN54 2986 100% . LIN7A 722 100% . LIN7B 648 74% . LIN7C 614 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 317

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LIN9 1737 100% . LINGO1 1871 99% . LINGO2 1825 100% . LINGO3 1783 85% . LINGO4 1786 98% . LINS 2298 100% . LIPA 1236 100% Wolman Disease LIPA 1236 100% Lysosomal Acid Lipase Deficiency/Cholesterol Ester Storage Disease LIPA 1236 100% Choriodal Dystrophy, Central Areolar 2 LIPC 1536 100% Hepatic Lipase Deficiency LIPE 3271 89% . LIPF 1590 99% . LIPG 1543 100% . LIPH 1396 100% . LIPI 1486 100% . LIPJ 1137 100% . LIPK 1236 100% . LIPM 1308 100% . LIPN 1233 100% . LIPT1 1126 100% . LIPT2 704 33% . LITAF 584 85% Charcot-Marie-Tooth Neuropathy Type 1 LITAF 584 85% Charcot-Marie-Tooth Neuropathy Type 1C LIX1 873 100% . LIX1L 1038 76% . LLGL1 3283 95% . LLGL2 3460 95% . LLPH 398 100% . LMAN1 1585 100% Factor V and Factor VIII, Combined Deficiency of LMAN1L 1637 86% . LMAN2 1103 100% . LMAN2L 1116 100% . LMBR1 1541 99% Triphalangeal Thumb-Polysyndactyly Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 318

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LMBR1L 1538 100% . LMBRD1 1687 100% Disorders of Intracellular Cobalamin Metabolism LMBRD1 1687 100% cblF LMBRD2 2156 100% . LMCD1 1122 100% . LMF1 1748 96% . LMF2 2180 81% . LMLN 2147 100% . LMNA 2179 86% Charcot-Marie-Tooth Neuropathy Type 2 LMNA 2179 86% Dilated Cardiomyopathy LMNA 2179 86% Familial Partial Lipodystrophy Type 2 LMNA 2179 86% Mandibuloacral Dysplasia LMNA 2179 86% Limb-Girdle Muscular Dystrophies, Autosomal Dominant LMNA 2179 86% Congenital Muscular Dystrophy LMNA 2179 86% Progeroid Laminopathies LMNA 2179 86% LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal LMNA 2179 86% Emery-Dreifuss Muscular Dystrophy LMNA 2179 86% Lethal Restrictive Dermopathy, LMNA-Related LMNA 2179 86% Charcot-Marie-Tooth Neuropathy Type 2B1 LMNA 2179 86% LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant LMNA 2179 86% LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive LMNA 2179 86% LMNA-Related Dilated Cardiomyopathy LMNA 2179 86% Dilated Cardiomyopathy with Quadriceps Myopathy LMNA 2179 86% Atypical Werner Syndrome LMNA 2179 86% Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules LMNA 2179 86% Hutchinson-Gilford Progeria Syndrome LMNA 2179 86% LMNA-Related Muscle Diseases LMNA 2179 86% Choriodal Dystrophy, Central Areolar 2 LMNB1 1935 82% Leukodystrophy, Adult-Onset, Autosomal Dominant LMNB2 1851 98% . LMO1 487 100% . LMO2 945 47% . LMO3 870 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 319

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LMO4 514 100% . LMO7 5604 100% . LMOD1 1815 100% . LMOD2 1656 100% . LMOD3 1695 100% . LMTK2 4568 98% . LMTK3 4534 59% . LMX1A 1181 100% . LMX1B 1547 82% Nail-Patella Syndrome LMX1B 1547 82% Choriodal Dystrophy, Central Areolar 2 LNP1 549 100% . LNPEP 3995 99% . LNX1 2323 100% . LNX2 2109 100% . LOC100127983 374 0% . LOC100128071 396 0% . LOC100129480 688 0% . LOC100129520 2986 0% . LOC100129636 426 21% . LOC100130705 539 0% . LOC100130890 306 0% . LOC100132146 282 0% . LOC100132247 3430 49% . LOC100132396 923 22% . LOC100133267 496 15% . LOC100287177 223 0% . LOC100287482 206 0% . LOC100287718 685 0% . LOC100288255 853 10% . LOC100288524 714 18% . LOC100288814 649 0% . LOC100289187 682 0% . LOC100293534 10798 20% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 320

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LOC100329135 340 100% . LOC100500938 223 0% . LOC100505478 379 0% . LOC100505841 378 0% . LOC100506888 3290 38% . LOC100507003 1569 0% . LOC100507050 1153 0% . LOC100507055 500 57% . LOC100507096 662 0% . LOC100507203 332 0% . LOC100507421 901 37% . LOC100507588 971 0% . LOC147646 569 0% . LOC147670 369 0% . LOC154872 289 0% . LOC200726 554 98% . LOC285033 374 99% . LOC286238 347 100% . LOC347411 415 0% . LOC375190 1010 100% . LOC388588 245 0% . LOC388630 1582 32% . LOC388946 671 100% . LOC389493 298 0% . LOC390940 864 69% . LOC391322 380 74% . LOC399939 2766 7% . LOC401052 365 100% . LOC402160 2001 0% . LOC440563 886 100% . LOC643037 397 0% . LOC644100 471 0% . LOC646498 631 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 321

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LOC646508 1396 100% . LOC646627 244 0% . LOC646851 1777 100% . LOC646862 994 10% . LOC647589 1172 2% . LOC649330 886 100% . LOC650293 655 100% . LOC653486 300 100% . LOC728369 6388 3% . LOC728373 6388 3% . LOC728379 6388 3% . LOC728392 364 0% . LOC728393 6388 3% . LOC728400 6388 3% . LOC728405 6388 3% . LOC728819 952 100% . LOC729020 691 100% . LOC730159 542 0% . LOC730755 391 4% . LOC81691 2401 97% . LOH12CR1 607 100% . LONP1 2952 95% . LONP2 2619 97% . LONRF1 2370 69% . LONRF2 2313 77% . LONRF3 2324 82% . LOR 943 29% . LOX 1395 97% . LOXHD1 8310 96% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive LOXHD1 8310 96% DFNB77 Nonsyndromic Hearing Loss and Deafness LOXL1 1753 63% . LOXL2 2377 100% . LOXL3 2314 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 322

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LOXL4 2327 99% . LPA 6279 73% . LPAR1 1107 100% . LPAR2 1064 100% . LPAR3 1070 100% . LPAR4 1117 100% . LPAR5 1123 72% . LPAR6 1039 100% . LPCAT1 1661 92% . LPCAT2 1691 97% . LPCAT3 1512 99% . LPCAT4 1631 86% . LPGAT1 1141 100% . LPHN1 4517 91% . LPHN2 4288 100% . LPHN3 4502 100% . LPIN1 2749 100% Myoglobinuria, Acute Recurrent, Autosomal Recessive LPIN2 2767 100% Majeed Syndrome LPIN3 2632 100% . LPL 1468 99% Familial Lipoprotein Lipase Deficiency LPL 1468 99% Choriodal Dystrophy, Central Areolar 2 LPO 2187 99% . LPP 2563 100% . LPPR1 1006 100% . LPPR2 2059 81% . LPPR3 2265 51% . LPPR4 2320 90% . LPPR5 1129 100% . LPXN 1229 97% . LRAT 701 100% Retinitis Pigmentosa, Autosomal Recessive LRAT 701 100% Leber Congenital Amaurosis LRAT 701 100% Retinitis Pigmentosa LRAT 701 100% Retinal Dystrophy, Early-Onset, Severe UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 323

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LRAT 701 100% LRAT-Related Leber Congenital Amaurosis LRAT 701 100% LRAT-Related Retinitis Pigmentosa LRBA 8992 100% . LRCH1 2487 91% . LRCH2 2382 90% . LRCH3 2215 97% . LRCH4 2124 92% . LRFN1 2324 96% . LRFN2 2378 98% . LRFN3 1895 95% . LRFN4 1916 71% . LRFN5 2176 100% . LRG1 1052 100% . LRGUK 2558 100% . LRIF1 2603 100% . LRIG1 3358 95% . LRIG2 3270 100% . LRIG3 3496 93% . LRIT1 1888 87% . LRIT2 1665 100% . LRIT3 1917 100% . LRMP 1568 100% . LRP1 13991 99% . LRP10 2170 100% . LRP11 1531 67% . LRP12 2608 100% . LRP1B 14164 100% . LRP2 14284 99% Donnai-Barrow Syndrome LRP2BP 1076 100% . LRP3 2341 86% . LRP4 5870 98% LRP4-Related Bone Mineral Density Variation LRP5 4940 97% Familial Exudative Vitreoretinopathy, Autosomal Dominant LRP5 4940 97% Osteoporosis Pseudoglioma Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 324

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LRP5 4940 97% Familial Exudative Vitreoretinopathy LRP5 4940 97% Van Buchem Disease, Type 2 LRP5 4940 97% Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus LRP5 4940 97% LRP5-Related Bone Mineral Density Variation LRP5 4940 97% LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant LRP5 4940 97% LRP5-Related Autosomal Dominant Osteopetrosis LRP5 4940 97% LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Recessive LRP5L 775 100% . LRP6 4934 100% . LRP8 2968 83% Myocardial Infarction, Susceptibility to, 1 LRPAP1 1106 82% . LRPPRC 4337 97% Leigh Syndrome, French-Canadian Type LRPPRC 4337 97% Choriodal Dystrophy, Central Areolar 2 LRR1 1506 99% . LRRC1 1631 100% . LRRC10 838 100% . LRRC10B 883 9% . LRRC14 1494 100% . LRRC14B 1553 82% . LRRC15 3525 99% . LRRC16A 4481 100% . LRRC16B 4279 95% . LRRC17 1356 100% . LRRC18 794 100% . LRRC19 1129 100% . LRRC2 1148 100% . LRRC20 571 100% . LRRC23 1241 100% . LRRC24 1558 69% . LRRC25 926 100% . LRRC26 1013 24% . LRRC27 1966 95% . LRRC28 1140 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 325

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LRRC29 688 79% . LRRC3 778 100% . LRRC30 910 100% . LRRC31 1695 100% . LRRC32 1997 100% . LRRC33 2087 100% . LRRC34 1643 85% . LRRC36 2478 98% . LRRC37A 5159 36% . LRRC37A2 5159 51% . LRRC37A3 4953 92% . LRRC37B 2892 100% . LRRC38 893 89% . LRRC39 1040 100% . LRRC3B 784 100% . LRRC3C 835 69% . LRRC4 1966 100% . LRRC40 1869 100% . LRRC41 2479 96% . LRRC42 1315 100% . LRRC43 2163 97% . LRRC45 2081 62% . LRRC46 998 100% . LRRC47 1780 72% . LRRC48 1672 98% . LRRC49 2281 97% . LRRC4B 2150 92% . LRRC4C 1927 100% . LRRC52 950 100% . LRRC55 1034 100% . LRRC56 1673 87% . LRRC57 740 100% . LRRC58 1132 79% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 326

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LRRC59 952 100% . LRRC6 1449 100% . LRRC61 784 100% . LRRC66 2659 100% . LRRC69 1076 55% . LRRC7 4714 100% . LRRC70 1873 0% . LRRC71 1740 83% . LRRC72 900 99% . LRRC73 975 94% . LRRC8A 2441 100% . LRRC8B 2420 100% . LRRC8C 2420 100% . LRRC8D 2581 100% . LRRC8E 2399 100% . LRRCC1 3175 100% . LRRD1 2603 100% . LRRFIP1 3631 93% . LRRFIP2 2274 98% . LRRIQ1 5277 100% . LRRIQ3 1903 100% . LRRIQ4 1703 100% . LRRK1 6180 96% . LRRK2 7788 100% Parkinson Disease LRRK2 7788 100% LRRK2-Related Parkinson Disease LRRN1 2155 100% . LRRN2 2146 100% . LRRN3 2131 100% . LRRN4 2239 83% . LRRN4CL 721 90% . LRRTM1 1573 100% . LRRTM2 1559 100% . LRRTM3 1758 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 327

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LRRTM4 3348 100% . LRSAM1 2268 94% Charcot-Marie-Tooth Neuropathy Type 2 LRSAM1 2268 94% Charcot-Marie-Tooth Neuropathy Type 2P LRTM1 1050 100% . LRTM2 1125 94% . LRTOMT 1650 87% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive LRTOMT 1650 87% DFNB63 Nonsyndromic Hearing Loss and Deafness LRWD1 2004 79% . LSAMP 1045 100% . LSG1 2033 100% . LSM1 418 100% . LSM10 376 100% . LSM11 1099 88% . LSM12 608 81% . LSM14A 1460 98% . LSM14B 1190 100% . LSM2 308 100% . LSM3 325 100% . LSM4 440 78% . LSM5 396 100% . LSM6 255 100% . LSM7 328 79% . LSMD1 530 100% . LSP1 1202 84% . LSR 1990 98% . LSS 2543 96% . LST1 883 99% . LTA 630 100% . LTA4H 1912 100% . LTB 751 96% . LTB4R 1063 83% . LTB4R2 1081 100% . LTBP1 5816 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 328

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LTBP2 5610 95% LTBP2-Related Primary Congenital Glaucoma LTBP2 5610 95% Primary Congenital Glaucoma LTBP3 4358 76% . LTBP4 5458 89% Cutis Laxa with Severe Pulmonary, Gastrointestinal, and Urinary Abnormalities LTBR 1348 96% . LTC4S 473 56% . LTF 2369 100% . LTK 2875 91% . LTN1 5559 100% . LTV1 1472 100% . LUC7L 1336 96% . LUC7L2 1569 96% . LUC7L3 1339 100% . LUM 1025 100% . LUZP1 3239 100% . LUZP2 1175 100% . LUZP4 958 100% . LUZP6 181 0% . LXN 693 100% . LY6D 399 86% . LY6E 408 100% . LY6G5B 618 100% . LY6G5C 465 100% . LY6G6C 390 100% . LY6G6D 414 100% . LY6G6F 918 100% . LY6H 634 58% . LY6K 945 90% . LY75 5309 98% . LY75-CD302 5778 98% . LY86 509 100% . LY9 2140 100% . LY96 503 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 329

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LYAR 1172 100% . LYG1 605 100% . LYG2 659 100% . LYL1 855 46% . LYN 1723 100% . LYNX1 669 90% . LYPD1 580 100% . LYPD2 390 56% . LYPD3 1061 100% . LYPD4 757 100% . LYPD5 909 92% . LYPD6 532 100% . LYPD6B 648 100% . LYPLA1 729 95% . LYPLA2 732 100% . LYPLAL1 734 100% . LYRM1 381 100% . LYRM2 279 100% . LYRM4 566 35% . LYRM5 281 100% . LYRM7 335 95% . LYSMD1 736 95% . LYSMD2 660 59% . LYSMD3 929 100% . LYSMD4 910 100% . LYST 11610 100% Chediak-Higashi Syndrome LYVE1 993 100% . LYZ 463 100% Familial Visceral Amyloidosis LYZ 463 100% LYZ-Related Familial Visceral Amyloidosis LYZL1 605 100% . LYZL2 605 100% . LYZL4 457 87% . LYZL6 463 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 330

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) LZIC 597 100% . LZTFL1 940 100% . LZTR1 2607 90% . LZTS1 1803 98% . LZTS2 2026 90% . M6PR 858 100% . MAB21L1 1084 100% . MAB21L2 1084 100% . MAB21L3 1113 100% . MACC1 2575 100% . MACF1 16665 100% . MACROD1 1018 65% . MACROD2 1505 100% . MAD1L1 2225 94% . MAD2L1 638 100% . MAD2L1BP 987 80% . MAD2L2 668 100% . MADCAM1 1169 52% . MADD 5569 100% . MAEA 1227 100% . MAEL 1353 97% . MAF 2350 67% . MAF1 799 98% . MAFA 1066 55% . MAFB 976 99% . MAFF 966 50% . MAFG 497 97% . MAFK 479 61% . MAG 2327 94% . MAGEA1 934 100% . MAGEA10 1114 100% . MAGEA10-MAGEA5 379 100% . MAGEA11 1319 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 331

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MAGEA12 949 100% . MAGEA2 1898 0% . MAGEA2B 1898 0% . MAGEA3 949 93% . MAGEA4 958 100% . MAGEA5 379 100% . MAGEA6 949 94% . MAGEA8 961 100% . MAGEA9 1904 10% . MAGEA9B 1904 10% . MAGEB1 1048 100% . MAGEB10 1048 100% . MAGEB16 979 100% . MAGEB18 1036 100% . MAGEB2 964 100% . MAGEB3 1045 100% . MAGEB4 1045 100% . MAGEB6 1228 100% . MAGEC1 3437 100% . MAGEC2 1126 100% . MAGEC3 4699 98% . MAGED1 2553 99% . MAGED2 1865 92% . MAGED4 4528 3% . MAGED4B 5434 5% . MAGEE1 2878 97% . MAGEE2 1576 100% . MAGEF1 928 99% . MAGEH1 664 99% . MAGEL2 3754 48% . MAGI1 5875 100% . MAGI2 4456 92% . MAGI3 4584 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 332

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MAGIX 1758 80% . MAGOH 461 100% . MAGOHB 467 100% . MAGT1 1144 100% Congenital Disorders of Glycosylation MAGT1 1144 100% MAGT1-CDG MAGT1 1144 100% Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia MAGT1 1144 100% X-Linked Mental Retardation 95 MAK 1924 100% Retinitis Pigmentosa MAK 1924 100% MAK-Related Retinitis Pigmentosa MAK16 943 100% . MAL 478 84% . MAL2 685 60% . MALL 478 46% . MALT1 2543 92% . MAMDC2 2117 94% . MAMDC4 3522 91% . MAML1 3071 90% . MAML2 3491 91% . MAML3 3429 96% . MAMLD1 3556 70% . MAMSTR 1473 76% . MAN1A1 2010 99% . MAN1A2 1978 100% . MAN1B1 2152 90% Mental Retardation, Nonsyndromic MAN1C1 1941 97% . MAN2A1 3523 100% . MAN2A2 3541 99% . MAN2B1 3219 91% Alpha-Mannosidosis MAN2B1 3219 91% Choriodal Dystrophy, Central Areolar 2 MAN2B2 3106 96% . MAN2C1 3227 93% . MANBA 2708 94% Beta-Mannosidosis MANBA 2708 94% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 333

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MANBAL 266 100% . MANEA 1405 100% . MANEAL 2145 85% . MANF 565 83% . MANSC1 1308 100% . MANSC4 1035 100% . MAOA 1644 93% MAOA-Related Behavior Disorders MAOA 1644 93% Brunner Syndrome MAOB 1623 100% . MAP1A 8424 100% . MAP1B 7435 100% . MAP1LC3A 438 87% . MAP1LC3B 394 95% . MAP1LC3B2 382 100% . MAP1LC3C 460 100% . MAP1S 3208 73% . MAP2 5804 100% . MAP2K1 1226 95% Cardiofaciocutaneous Syndrome MAP2K1 1226 95% Noonan Syndrome MAP2K1 1226 95% MAP2K1-Related Cardiofaciocutaneous Syndrome MAP2K1 1226 95% MAP2K1-Related Noonan Syndrome MAP2K2 1247 82% Cardiofaciocutaneous Syndrome MAP2K2 1247 82% MAP2K2-Related Cardiofaciocutaneous Syndrome MAP2K3 1163 100% . MAP2K4 1244 90% . MAP2K5 1435 94% . MAP2K6 1053 100% . MAP2K7 1304 82% . MAP3K1 4619 90% . MAP3K10 2905 76% . MAP3K11 2584 90% . MAP3K12 3629 99% . MAP3K13 2953 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 334

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MAP3K14 2903 100% . MAP3K15 4058 87% . MAP3K2 1924 100% . MAP3K3 2042 100% . MAP3K4 4935 99% . MAP3K5 4245 99% . MAP3K6 3983 91% . MAP3K7 2074 100% . MAP3K8 1432 100% . MAP3K9 3409 92% . MAP4 3694 99% . MAP4K1 2766 89% . MAP4K2 2591 90% . MAP4K3 2821 100% . MAP4K4 4675 100% . MAP4K5 2665 100% . MAP6 2667 75% . MAP6D1 612 27% . MAP7 2784 91% . MAP7D1 2594 79% . MAP7D2 2633 98% . MAP7D3 2723 97% . MAP9 1996 100% . MAPK1 1115 90% . MAPK10 1917 100% Epileptic Encephalopathy, Lennox-Gastaut Type MAPK11 1143 79% . MAPK12 1152 77% . MAPK13 1146 100% . MAPK14 1582 100% . MAPK15 1691 94% . MAPK1IP1L 750 100% . MAPK3 1400 95% . MAPK4 1784 82% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 335

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MAPK6 2186 100% . MAPK7 3558 96% . MAPK8 1564 100% . MAPK8IP1 2184 78% . MAPK8IP2 2982 74% . MAPK8IP3 4345 96% . MAPK9 1710 100% . MAPKAP1 1808 100% . MAPKAPK2 1301 93% . MAPKAPK3 1189 96% . MAPKAPK5 1604 100% . MAPKBP1 4669 98% . MAPRE1 831 100% . MAPRE2 1364 93% . MAPRE3 870 100% . MAPT 2387 97% MAPT-Related Disorders MAPT 2387 97% Choriodal Dystrophy, Central Areolar 2 MARCKS 1007 63% . MARCKSL1 596 100% . MARCO 1631 97% . MARK1 2460 99% . MARK2 2813 98% . MARK3 2492 100% . MARK4 2208 87% . MARS 2787 100% . MARS2 1786 100% . MARVELD1 526 75% . MARVELD2 1701 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MARVELD2 1701 100% DFNB49 Nonsyndromic Hearing Loss and Deafness MARVELD3 1860 75% . MAS1 982 100% . MAS1L 1141 100% . MASP1 3109 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 336

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MASP2 2123 89% MASP2 Deficiency MAST1 4817 96% . MAST2 5513 96% . MAST3 4038 92% . MAST4 8118 97% . MASTL 2834 100% Thrombocytopenia 2 MAT1A 1224 99% Isolated Persistent Hypermethioninemia MAT1A 1224 99% Choriodal Dystrophy, Central Areolar 2 MAT2A 1224 100% . MAT2B 1067 94% . MATK 1719 94% . MATN1 1523 89% . MATN2 3082 100% . MATN3 1493 85% MATN3-Related Multiple Epiphyseal Dysplasia MATN3 1493 85% Multiple Epiphyseal Dysplasia, Dominant MATN3 1493 85% Choriodal Dystrophy, Central Areolar 2 MATN4 1782 96% . MATR3 2652 98% Distal Myopathy 2 MAU2 1918 100% . MAVS 1824 100% . MAX 1081 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes MAX 1081 100% MAX-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome MAZ 1661 80% . MB 477 100% . MB21D1 1589 85% . MB21D2 1484 100% . MBD1 2742 100% . MBD2 1471 76% . MBD3 900 98% . MBD3L1 589 100% . MBD3L2 635 44% . MBD3L3 635 95% . MBD3L4 635 12% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 337

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MBD3L5 635 26% . MBD4 1775 98% . MBD5 4525 100% Mental Retardation, Autosomal Dominant 1 MBD6 3056 100% . MBIP 1183 100% . MBL2 763 100% Mannose-Binding Protein Deficiency MBLAC1 805 79% . MBLAC2 848 91% . MBNL1 1368 100% . MBNL2 1381 100% . MBNL3 1513 100% . MBOAT1 1540 100% . MBOAT2 1615 95% . MBOAT4 1320 73% . MBOAT7 1770 77% . MBP 1965 96% . MBTD1 1947 100% . MBTPS1 3247 100% . MBTPS2 1604 96% Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome MC1R 958 100% Cutaneous Malignant Melanoma MC2R 898 100% Glucocorticoid Deficiency 1 MC2R 898 100% Choriodal Dystrophy, Central Areolar 2 MC3R 976 100% . MC4R 1003 100% Obesity, MC4R-Related MC4R 1003 100% Obesity MC4R 1003 100% Choriodal Dystrophy, Central Areolar 2 MC5R 982 100% . MCAM 2005 96% . MCART1 898 100% . MCART2 898 100% . MCART6 928 100% . MCAT 1637 90% . MCC 3197 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 338

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MCCC1 2254 98% 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 2254 98% MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC1 2254 98% Choriodal Dystrophy, Central Areolar 2 MCCC2 1760 92% 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2 1760 92% MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency MCCC2 1760 92% Choriodal Dystrophy, Central Areolar 2 MCCD1 368 83% . MCEE 543 99% Methylmalonic Acidemia MCEE 543 99% MCEE-Related Methylmalonic Acidemia MCF2 3266 100% . MCF2L 3415 96% . MCF2L2 3465 99% . MCFD2 805 77% Factor V and Factor VIII, Combined Deficiency of MCHR1 1277 100% . MCHR2 1043 100% . MCL1 2592 96% . MCM10 2849 100% . MCM2 2779 100% . MCM3 2495 99% . MCM3AP 6055 99% . MCM4 2656 100% . MCM5 2269 95% . MCM6 2534 100% Lactose Intolerance, Adult Type MCM7 2405 100% . MCM8 2795 100% . MCM9 3656 95% . MCMBP 2325 97% . MCOLN1 1799 98% Mucolipidosis IV MCOLN1 1799 98% Choriodal Dystrophy, Central Areolar 2 MCOLN2 1757 100% . MCOLN3 1710 100% . MCPH1 3739 100% Primary Autosomal Recessive Microcephaly Type 1 MCPH1 3739 100% Primary Autosomal Recessive Microcephaly UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 339

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MCRS1 1498 96% . MCTP1 3153 87% . MCTP2 2936 100% . MCTS1 588 100% . MCU 1088 88% . MDC1 6326 100% . MDFI 757 90% . MDFIC 1335 84% . MDGA1 2936 90% . MDGA2 3283 99% . MDH1 1282 100% . MDH1B 1605 100% . MDH2 1053 93% . MDK 448 99% . MDM1 2912 100% . MDM2 1538 100% . MDM4 2087 100% . MDN1 17199 100% . MDP1 889 100% . ME1 1775 97% . ME2 1987 100% . ME3 1871 100% . MEA1 574 99% . MEAF6 638 98% . MECOM 4066 100% . MECP2 1539 98% MECP2-Related Disorders MECP2 1539 98% MECP2 Duplication Syndrome MECP2 1539 98% X-Linked Mental Retardation, Syndromic, 13 (319665) MECP2 1539 98% MECP2-Related Angelman-like Syndrome MECP2 1539 98% X-Linked Syndromic Mental Retardation 13 MECP2 1539 98% Choriodal Dystrophy, Central Areolar 2 MECR 1264 96% . MED1 4814 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 340

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MED10 424 100% . MED11 366 100% . MED12 6714 96% FG Syndrome Type 1 MED12 6714 96% Lujan Syndrome MED12 6714 96% MED12-Related Disorders MED12L 6610 100% . MED13 6645 100% . MED13L 6757 100% . MED14 4489 93% . MED15 2439 99% . MED16 2694 83% . MED17 2004 93% . MED18 635 100% . MED19 601 63% . MED20 655 100% . MED21 451 100% . MED22 852 100% . MED23 4424 100% . MED24 3070 95% . MED25 2316 95% Charcot-Marie-Tooth Neuropathy Type 2 MED25 2316 95% Charcot-Marie-Tooth Neuropathy Type 2B2 MED26 1815 96% . MED27 968 99% . MED28 553 100% . MED29 682 100% . MED30 553 99% . MED31 412 100% . MED4 841 100% . MED6 773 100% . MED7 706 100% . MED8 1011 100% . MED9 449 100% . MEF2A 1700 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 341

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MEF2B 1242 59% . MEF2BNB 503 0% . MEF2BNB-MEF2B 1126 65% . MEF2C 2078 100% Mental Retardation, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations MEF2D 1610 87% . MEFV 3331 99% Familial Mediterranean Fever MEFV 3331 99% Choriodal Dystrophy, Central Areolar 2 MEGF10 3519 100% Myopathy, Early-Onset, Areflexia, Respiratory Distress, and Dysphagia MEGF11 3223 89% . MEGF6 4774 78% . MEGF8 8501 93% . MEGF9 1833 88% . MEI1 3949 99% . MEIG1 275 100% . MEIS1 1221 100% . MEIS2 2280 100% . MEIS3 1687 92% . MELK 2024 100% . MEMO1 930 93% . MEN1 2348 92% Multiple Endocrine Neoplasia Type 1 MEN1 2348 92% Hyperparathyroidism 1 MEN1 2348 92% Choriodal Dystrophy, Central Areolar 2 MEOX1 1377 94% . MEOX2 927 99% . MEP1A 2297 100% . MEP1B 2166 100% . MEPCE 3761 82% . MEPE 3064 100% . MERTK 3076 99% Retinitis Pigmentosa, Autosomal Recessive MERTK 3076 99% Retinitis Pigmentosa MERTK 3076 99% MERTK-Related Retinitis Pigmentosa MESDC1 1093 79% . MESDC2 717 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 342

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MESP1 815 53% . MESP2 1202 78% MESP2-Related Spondylocostal Dysostosis, Autosomal Recessive MESP2 1202 78% Spondylocostal Dysostosis MESP2 1202 78% Spondylocostal Dysostosis, Autosomal Recessive MESP2 1202 78% Spondylothoracic Dysostosis MEST 1374 98% . MET 4465 100% Papillary Renal Carcinoma MET 4465 100% Choriodal Dystrophy, Central Areolar 2 METAP1 1205 99% . METAP1D 1048 96% . METAP2 1481 100% . METRN 898 28% . METRNL 952 80% . METTL1 961 100% . METTL10 904 62% . METTL11A 684 100% . METTL11B 868 100% . METTL12 731 100% . METTL13 3864 100% . METTL14 1415 100% . METTL15 1292 100% . METTL16 1725 100% . METTL17 2232 100% . METTL18 1123 100% . METTL19 2318 87% . METTL20 801 100% . METTL21A 669 100% . METTL21B 1232 100% . METTL21C 811 100% . METTL21D 714 100% . METTL22 1255 100% . METTL23 831 100% . METTL2A 1173 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 343

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) METTL2B 1173 100% . METTL3 1787 100% . METTL4 1451 100% . METTL5 658 100% . METTL6 875 100% . METTL7A 743 100% . METTL7B 743 100% . METTL8 1260 100% . METTL9 1187 90% . MEX3A 1571 93% . MEX3B 1718 97% . MEX3C 1988 68% . MEX3D 3392 51% . MFAP1 1356 100% . MFAP2 678 80% . MFAP3 1895 100% . MFAP3L 2174 100% . MFAP4 874 92% . MFAP5 558 100% . MFF 1065 100% . MFGE8 1196 94% . MFHAS1 3171 91% . MFI2 2482 89% . MFN1 2294 100% . MFN2 2342 100% Charcot-Marie-Tooth Neuropathy Type 2 MFN2 2342 100% Charcot-Marie-Tooth Neuropathy Type 2A2 MFN2 2342 100% Charcot-Marie-Tooth Neuropathy Type 2A MFN2 2342 100% Hereditary Motor and Sensory Neuropathy VI MFNG 1271 100% . MFRP 1792 100% . MFSD1 1666 96% . MFSD10 1416 85% . MFSD11 1402 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 344

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MFSD12 1690 84% . MFSD2A 1856 98% . MFSD2B 1546 93% . MFSD3 1259 56% . MFSD4 1585 91% . MFSD5 3057 97% . MFSD6 2400 100% . MFSD6L 1765 100% . MFSD7 1785 86% . MFSD8 1605 100% Neuronal Ceroid-Lipofuscinoses MFSD8 1605 100% MFSD8-Related Neuronal Ceroid-Lipofuscinosis MFSD9 1449 100% . MGA 9290 100% . MGAM 5762 100% . MGAT1 1342 95% . MGAT2 1348 100% Congenital Disorders of Glycosylation MGAT2 1348 100% MGAT2-CDG (CDG-IIa) MGAT2 1348 100% Choriodal Dystrophy, Central Areolar 2 MGAT3 1606 96% . MGAT4A 1770 95% . MGAT4B 2181 94% . MGAT4C 1449 100% . MGAT5 2290 100% . MGAT5B 2932 95% . MGEA5 2815 97% . MGLL 1123 92% . MGMT 737 96% . MGP 407 81% Keutel Syndrome MGRN1 1847 91% . MGST1 480 100% . MGST2 625 100% . MGST3 479 100% . MIA 412 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 345

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MIA2 1989 100% . MIA3 5836 98% . MIB1 3105 99% . MIB2 4278 62% . MICA 1460 95% . MICAL1 3300 100% . MICAL2 3475 100% . MICAL3 7207 95% . MICALCL 2120 95% . MICALL1 2656 80% . MICALL2 2783 72% . MICB 1176 95% . MICU1 1668 93% . MID1 3428 94% Opitz G/BBB Syndrome, X-Linked MID1IP1 556 100% . MID2 2486 100% . MIDN 1435 84% . MIEN1 364 75% . MIER1 2888 98% . MIER2 1694 88% . MIER3 1702 99% . MIF 360 49% . MIF4GD 901 100% . MIIP 1203 100% . MILR1 285 100% . MINA 1610 100% . MINK1 4420 91% . MINOS1 253 100% . MINPP1 1923 100% . MIOS 2668 100% . MIOX 898 99% . MIP 808 100% . MIPEP 2218 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 346

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MIPOL1 1373 100% . MIR205HG 321 98% . MIS12 622 100% . MIS18A 722 98% . MIS18BP1 3463 100% . MITD1 778 100% . MITF 2407 97% Waardenburg Syndrome Type II MITF 2407 97% Waardenburg Syndrome Type IIA MITF 2407 97% Tietz Syndrome MIXL1 707 64% . MKI67 9827 100% . MKI67IP 910 100% . MKKS 1729 100% Bardet-Biedl Syndrome MKKS 1729 100% McKusick-Kaufman Syndrome MKKS 1729 100% MKKS-Related Bardet-Biedl Syndrome MKKS 1729 100% Choriodal Dystrophy, Central Areolar 2 MKL1 2844 96% . MKL2 3210 100% . MKLN1 2313 99% . MKNK1 1680 92% . MKNK2 1545 71% . MKRN1 1708 89% . MKRN2 1283 98% . MKRN3 1528 100% . MKS1 1806 92% Bardet-Biedl Syndrome MKS1 1806 92% Meckel Syndrome MKS1 1806 92% MKS1-Related Meckel Syndrome MKS1 1806 92% MKS1-Related Bardet-Biedl Syndrome MKX 1083 93% . MLANA 373 100% . MLC1 1178 98% MLC1-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts MLC1 1178 98% Megalencephalic Leukoencephalopathy with Subcortical Cysts MLC1 1178 98% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 347

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MLEC 899 95% . MLF1 1135 91% . MLF1IP 1309 98% . MLF2 775 96% . MLH1 2567 100% Lynch Syndrome MLH1 2567 100% Turcot Syndrome MLH1 2567 100% MLH1-Related Lynch Syndrome MLH1 2567 100% MLH1-Related Muir-Torre Syndrome MLH1 2567 100% MLH1-Related Turcot Syndrome MLH1 2567 100% Choriodal Dystrophy, Central Areolar 2 MLH3 4410 100% Lynch Syndrome MLH3 4410 100% MLH3-Related Lynch Syndrome MLIP 1429 100% . MLKL 1572 100% . MLL 12190 99% . MLL2 16830 98% Kabuki Syndrome MLL3 14972 100% . MLL4 8296 92% . MLL5 5677 100% . MLLT1 1728 89% . MLLT10 4276 97% . MLLT11 277 100% . MLLT3 1751 100% . MLLT4 5462 98% . MLLT6 3362 88% . MLN 486 58% . MLNR 1247 89% . MLPH 1863 96% . MLST8 1069 100% . MLX 1137 68% . MLXIP 2828 94% . MLXIPL 2883 76% . MLYCD 1502 84% Malonyl-CoA Decarboxylase Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 348

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MLYCD 1502 84% Choriodal Dystrophy, Central Areolar 2 MMAA 1281 100% Methylmalonic Acidemia MMAA 1281 100% MMAA-Related Methylmalonic Acidemia MMAA 1281 100% Choriodal Dystrophy, Central Areolar 2 MMAB 789 85% Methylmalonic Acidemia MMAB 789 85% MMAB-Related Methylmalonic Acidemia MMACHC 865 100% cblC MMACHC 865 100% Disorders of Intracellular Cobalamin Metabolism MMADHC 919 100% Methylmalonic Acidemia MMADHC 919 100% Disorders of Intracellular Cobalamin Metabolism MMADHC 919 100% cblD MMADHC 919 100% cblD (variant 1) MMADHC 919 100% cblD (variant 2) MMADHC 919 100% MMADHC-Related Methylmalonic Acidemia MMD 745 100% . MMD2 987 88% . MME 2341 100% . MMEL1 2432 88% . MMGT1 412 80% . MMP1 1699 100% . MMP10 1471 100% . MMP11 1499 92% . MMP12 1452 100% . MMP13 1456 100% Spondyloepimetaphyseal Dysplasia, Missouri Type MMP13 1456 100% Metaphyseal Anadysplasia 1 MMP14 1789 99% . MMP15 2050 84% . MMP16 1864 100% . MMP17 1852 80% . MMP19 1563 99% . MMP2 2042 100% Winchester Syndrome MMP2 2042 100% Multicentric Osteolysis of Torg MMP2 2042 100% Multicentric Osteolysis, Nodulosis, and Arthropathy UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 349

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MMP20 1492 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA2 MMP21 1738 80% . MMP23B 1205 14% . MMP24 1974 87% . MMP25 1729 74% . MMP26 810 100% . MMP27 1582 100% . MMP28 1814 93% . MMP3 1474 100% . MMP7 828 100% . MMP8 1444 100% . MMP9 2176 78% . MMRN1 3719 100% . MMRN2 2878 96% . MMS19 3217 100% . MMS22L 3828 100% . MN1 3971 82% . MNAT1 962 100% . MND1 699 100% . MNDA 1248 100% . MNS1 1528 100% . MNT 1773 68% . MNX1 1277 49% Currarino Syndrome MOAP1 1060 100% . MOB1A 675 99% . MOB1B 813 100% . MOB2 852 80% . MOB3A 666 100% . MOB3B 663 100% . MOB3C 1295 100% . MOB4 777 94% . MOBP 254 100% . MOCOS 2727 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 350

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MOCS1 1575 93% Molybdenum Cofactor Deficiency MOCS2 931 98% Molybdenum Cofactor Deficiency MOCS3 1387 100% . MOG 861 100% . MOGAT1 1032 92% . MOGAT2 1029 100% . MOGAT3 1054 100% . MOGS 2886 80% Congenital Disorders of Glycosylation MOGS 2886 80% MOGS-CDG (CDG-IIb) MOK 1308 100% . MON1A 1983 93% . MON1B 1664 100% . MON2 5294 100% . MORC1 3067 100% . MORC2 3005 100% . MORC3 2888 99% . MORC4 3328 97% . MORF4L1 1141 96% . MORF4L2 871 100% . MORN1 1550 76% . MORN2 248 100% . MORN3 743 86% . MORN4 457 100% . MORN5 506 100% . MOS 1045 100% . MOSPD1 662 100% . MOSPD2 1777 100% . MOSPD3 962 100% . MOV10 3092 100% . MOV10L1 3911 96% . MOXD1 1890 94% . MPDU1 772 100% Congenital Disorders of Glycosylation MPDU1 772 100% MPDU1-CDG (CDG-If) UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 351

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MPDZ 6306 100% . MPEG1 2155 100% . MPG 1221 95% . MPHOSPH10 2090 100% . MPHOSPH6 503 100% . MPHOSPH8 2639 97% . MPHOSPH9 3176 100% . MPI 1304 100% Congenital Disorders of Glycosylation MPI 1304 100% MPI-CDG (CDG-Ib) MPI 1304 100% Choriodal Dystrophy, Central Areolar 2 MPL 1956 92% Amegakaryocytic Thrombocytopenia, Congenital MPL 1956 92% MPL-Related Essential Thrombocythemia MPL 1956 92% Choriodal Dystrophy, Central Areolar 2 MPND 1558 74% . MPO 2286 98% . MPP1 1814 97% . MPP2 1707 100% . MPP3 1830 96% . MPP4 1998 100% Retinitis Pigmentosa, Autosomal Recessive MPP5 2080 100% . MPP6 1667 100% . MPP7 1795 100% . MPPE1 1227 100% . MPPED1 1005 88% . MPPED2 981 100% . MPRIP 3246 100% . MPST 1589 71% . MPV17 559 100% MPV17- Related Hepatocerebral Mitochondrial DNA Depletion Syndrome MPV17 559 100% Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form MPV17L 791 63% . MPV17L2 641 75% . MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 1 MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 352

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MPZ 771 95% Congenital Hypomyelination MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 1B MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 2I/2J MPZ 771 95% Charcot-Marie-Tooth Neuropathy Type 2J MPZ 771 95% MPZ-Related Intermediate Charcot-Marie-Tooth Neuropathy MPZ 771 95% Choriodal Dystrophy, Central Areolar 2 MPZL1 940 90% . MPZL2 668 100% . MPZL3 732 100% . MR1 1330 100% . MRAP 638 100% Glucocorticoid Deficiency 2 MRAP2 630 100% . MRAS 805 100% . MRC1 8982 34% . MRC2 4560 91% . MRE11A 2203 100% Ataxia-Telangiectasia-Like Disorder MREG 665 87% . MRFAP1 388 100% . MRFAP1L1 388 100% . MRGPRD 970 100% . MRGPRE 940 76% . MRGPRF 1040 52% . MRGPRG 874 29% . MRGPRX1 973 100% . MRGPRX2 997 100% . MRGPRX3 973 100% . MRGPRX4 973 100% . MRI1 1408 77% . MRM1 1082 100% . MRO 920 84% . MRP63 313 100% . MRPL1 1014 100% . MRPL10 892 84% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 353

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MRPL11 803 100% . MRPL12 617 87% . MRPL13 565 100% . MRPL14 446 100% . MRPL15 911 88% . MRPL16 772 100% . MRPL17 540 100% . MRPL18 559 100% . MRPL19 903 86% . MRPL2 946 90% . MRPL20 466 100% . MRPL21 814 100% . MRPL22 719 100% . MRPL23 482 95% . MRPL24 671 100% . MRPL27 463 100% . MRPL28 791 98% . MRPL3 1087 100% . MRPL30 506 100% . MRPL32 579 100% . MRPL33 416 100% . MRPL34 287 76% . MRPL35 781 100% . MRPL36 316 100% . MRPL37 1300 100% . MRPL38 1179 93% . MRPL39 1202 100% . MRPL4 1159 99% . MRPL40 637 91% . MRPL41 418 99% . MRPL42 449 100% . MRPL43 2845 92% . MRPL44 1015 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 354

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MRPL45 953 100% . MRPL46 856 99% . MRPL47 882 100% . MRPL48 671 99% . MRPL49 517 98% . MRPL50 485 100% . MRPL51 399 100% . MRPL52 680 99% . MRPL53 351 100% . MRPL54 429 100% . MRPL55 511 84% . MRPL9 853 97% . MRPS10 634 100% . MRPS11 609 100% . MRPS12 425 100% . MRPS14 399 100% . MRPS15 806 100% . MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency MRPS16 426 100% Combined Oxidative Phosphorylation Deficiency 2 MRPS17 401 100% . MRPS18A 764 95% . MRPS18B 805 100% . MRPS18C 453 100% . MRPS2 907 92% . MRPS21 272 100% . MRPS22 1115 100% Combined Oxidative Phosphorylation Deficiency 5 MRPS23 593 100% . MRPS24 520 78% . MRPS25 538 92% . MRPS26 634 68% . MRPS27 1289 100% . MRPS28 576 100% . MRPS30 1340 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 355

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MRPS31 1216 100% . MRPS33 329 100% . MRPS34 669 52% . MRPS35 1078 100% . MRPS36 328 100% . MRPS5 1341 95% . MRPS6 390 100% . MRPS7 749 99% . MRPS9 1235 100% . MRRF 895 100% . MRS2 1376 100% . MRTO4 752 98% . MRVI1 3773 99% . MS4A1 918 100% . MS4A10 832 100% . MS4A12 828 100% . MS4A13 479 100% . MS4A14 2060 100% . MS4A15 874 71% . MS4A2 763 100% . MS4A3 835 100% . MS4A4A 912 100% . MS4A5 623 100% . MS4A6A 1429 100% . MS4A6E 456 100% . MS4A7 747 100% . MS4A8B 777 100% . MSC 629 98% . MSGN1 586 100% . MSH2 2869 95% Lynch Syndrome MSH2 2869 95% MSH2-Related Muir-Torre Syndrome MSH2 2869 95% MSH2-Related Lynch Syndrome MSH2 2869 95% MSH2-Related Turcot Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 356

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MSH2 2869 95% Choriodal Dystrophy, Central Areolar 2 MSH3 3510 99% . MSH4 2891 100% . MSH5 3044 96% . MSH6 4123 100% Lynch Syndrome MSH6 4123 100% MSH6-Related Lynch Syndrome MSH6 4123 100% MSH6-Related Turcot Syndrome MSH6 4123 100% Choriodal Dystrophy, Central Areolar 2 MSI1 1145 76% . MSI2 1229 95% . MSL1 1088 100% . MSL2 3338 100% . MSL3 2242 97% . MSLN 2128 97% . MSLNL 3226 71% . MSMB 495 100% . MSMO1 1055 100% . MSMP 432 100% . MSN 1786 95% . MSR1 1440 100% . MSRA 822 98% . MSRB2 569 79% . MSRB3 683 96% . MST1 2250 100% . MST1R 4283 99% . MST4 1295 97% . MSTN 1140 100% Myostatin-Related Muscle Hypertrophy MSTO1 1769 88% . MSX1 920 74% Cleft Lip +/- Cleft Palate MSX1 920 74% Tooth Agenesis, Selective, 1 MSX1 920 74% Witkop Syndrome MSX1 920 74% Orofacial Cleft 5 MSX1 920 74% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 357

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MSX2 812 66% MSX2-Related Craniosynostosis MSX2 812 66% Parietal Foramina 1 MSX2 812 66% Enlarged Parietal Foramina/Cranium Bifidum MSX2 812 66% Choriodal Dystrophy, Central Areolar 2 MT1A 198 100% . MT1B 198 100% . MT1E 198 100% . MT1F 198 100% . MT1G 198 100% . MT1H 198 100% . MT1M 198 100% . MT1X 198 100% . MT2A 198 100% . MT3 219 100% . MT4 201 100% . MTA1 2388 92% . MTA2 2079 100% . MTA3 1604 98% . MTAP 884 100% . MTBP 2803 100% . MTCH1 1167 71% . MTCH2 964 98% . MTCP1 336 100% . MTCP1NB 215 100% . MTDH 1797 99% . MTERF 1208 100% . MTERFD1 1282 100% . MTERFD2 1162 98% . MTERFD3 1162 100% . MTF1 2302 100% . MTF2 1942 100% . MTFMT 1206 82% . MTFP1 874 92% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 358

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MTFR1 1431 100% . MTG1 1049 84% . MTHFD1 2916 100% . MTHFD1L 3186 92% . MTHFD2 1085 100% . MTHFD2L 1076 86% . MTHFR 2015 100% MTHFR Deficiency MTHFR 2015 100% MTHFR Thermolabile Variant MTHFR 2015 100% Neural Tube Defects, Folate-Sensitive MTHFR 2015 100% Choriodal Dystrophy, Central Areolar 2 MTHFS 890 86% . MTHFSD 1524 86% . MTIF2 2236 100% . MTIF3 849 100% . MTL5 1664 94% . MTM1 1868 100% X-Linked Centronuclear Myopathy MTM1 1868 100% Choriodal Dystrophy, Central Areolar 2 MTMR1 2058 93% . MTMR10 2398 93% . MTMR11 2636 97% . MTMR12 2308 100% . MTMR14 2029 95% . MTMR2 2072 96% Charcot-Marie-Tooth Neuropathy Type 4 MTMR2 2072 96% Charcot-Marie-Tooth Neuropathy Type 4B1 MTMR3 3700 100% . MTMR4 3660 100% . MTMR6 1922 100% . MTMR7 2039 99% . MTMR8 2171 100% . MTMR9 1690 100% . MTNR1A 1061 87% . MTNR1B 1097 100% . MTO1 2330 92% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 359

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MTOR 7878 100% . MTPAP 1785 100% . MTPN 373 100% . MTR 3930 99% Disorders of Intracellular Cobalamin Metabolism MTR 3930 99% cblG MTRF1 1374 100% . MTRF1L 1376 97% . MTRNR2L1 79 0% . MTRNR2L10 79 0% . MTRNR2L2 91 0% . MTRNR2L3 79 0% . MTRNR2L4 91 0% . MTRNR2L5 79 0% . MTRNR2L6 79 0% . MTRNR2L7 79 0% . MTRNR2L8 79 0% . MTRR 2396 100% cblE MTRR 2396 100% Disorders of Intracellular Cobalamin Metabolism MTSS1 2324 99% . MTSS1L 2304 78% . MTTP 2757 100% Abetalipoproteinemia MTUS1 4327 100% . MTUS2 4254 95% . MTX1 1433 56% . MTX2 832 98% . MTX3 1171 92% . MUC1 2130 98% . MUC12 16056 84% . MUC13 1580 100% . MUC15 1838 97% . MUC16 43860 100% . MUC17 13534 100% . MUC2 8642 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 360

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MUC20 2246 85% . MUC21 1713 100% . MUC22 5338 0% . MUC4 16339 94% . MUC5B 17485 95% . MUC6 7452 92% . MUC7 1142 100% . MUCL1 289 100% . MUDENG 1505 100% . MUL1 1075 93% . MUM1 2188 74% . MUM1L1 2095 100% . MURC 1103 100% . MUS81 1720 94% . MUSK 2884 100% Congenital Myasthenic Syndromes MUSK 2884 100% MUSK-Related Congenital Myasthenic Syndrome MUSTN1 261 100% . MUT 2301 100% Methylmalonic Acidemia MUT 2301 100% MUT-Related Methylmalonic Acidemia MUT 2301 100% Choriodal Dystrophy, Central Areolar 2 MUTED 775 99% . MUTYH 2474 100% MUTYH-Associated Polyposis MUTYH 2474 100% Choriodal Dystrophy, Central Areolar 2 MVD 1243 73% . MVK 1231 100% Mevalonicaciduria MVK 1231 100% Hyper IgD Syndrome MVK 1231 100% Choriodal Dystrophy, Central Areolar 2 MVP 2738 97% . MX1 2041 100% . MX2 2200 100% . MXD1 882 91% . MXD3 726 72% . MXD4 654 81% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 361

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MXI1 1126 91% . MXRA5 8511 98% . MXRA7 686 50% . MXRA8 1369 72% . MYADM 973 100% . MYADML2 928 73% . MYB 2718 99% . MYBBP1A 4688 95% . MYBL1 2323 100% . MYBL2 2159 99% . MYBPC1 3726 100% Arthrogryposis, Distal, Type 1B MYBPC2 3538 100% . MYBPC3 4016 97% Familial Hypertrophic Cardiomyopathy MYBPC3 4016 97% Dilated Cardiomyopathy MYBPC3 4016 97% MYBPC3-Related Dilated Cardiomyopathy MYBPC3 4016 97% MYBPC3-Related Familial Hypertrophic Cardiomyopathy MYBPC3 4016 97% Choriodal Dystrophy, Central Areolar 2 MYBPH 1474 97% . MYBPHL 1097 100% . MYC 1377 100% . MYCBP 332 91% . MYCBP2 14369 99% . MYCBPAP 3031 99% . MYCL1 2590 71% . MYCN 1403 93% Feingold Syndrome 1 MYCT1 716 100% . MYD88 1342 100% . MYEF2 1871 96% . MYEOV 950 98% . MYEOV2 985 92% . MYF5 780 100% . MYF6 741 100% Centronuclear Myopathy 3 MYH1 5972 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 362

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MYH10 6091 100% . MYH11 6139 100% Thoracic Aortic Aneurysms and Aortic Dissections MYH11 6139 100% MYH11-Related Thoracic Aortic Aneurysms and Aortic Dissections MYH13 5973 99% . MYH14 6279 85% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYH14 6279 85% DFNA 4 Nonsyndromic Hearing Loss and Deafness MYH15 6009 100% . MYH2 5978 100% Inclusion Body Myopathy 3 MYH3 5979 100% Freeman-Sheldon Syndrome MYH3 5979 100% Arthrogryposis Multiplex Congenita, Distal, Type 2B MYH3 5979 100% MYH3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B MYH3 5979 100% Arthrogryposis, Distal, Type 2A MYH4 5972 100% . MYH6 5968 100% Familial Hypertrophic Cardiomyopathy MYH6 5968 100% Dilated Cardiomyopathy MYH6 5968 100% MYH6-Related Familial Hypertrophic Cardiomyopathy MYH6 5968 100% MYH6-Related Dilated Cardiomyopathy MYH6 5968 100% Atrial Septal Defect 3 MYH7 5960 100% Familial Hypertrophic Cardiomyopathy MYH7 5960 100% Dilated Cardiomyopathy MYH7 5960 100% Laing Distal Myopathy MYH7 5960 100% MYH7-Related Dilated Cardiomyopathy MYH7 5960 100% MYH7-Related Familial Hypertrophic Cardiomyopathy MYH7 5960 100% MYH7-Related Myosin Storage Myopathy MYH7 5960 100% Scapuloperoneal Myopathy, MYH7-Related MYH7 5960 100% Left Ventricular Noncompaction 5 MYH7 5960 100% Hypertrophic Cardiomyopathy, Midventricular, Digenic MYH7 5960 100% Choriodal Dystrophy, Central Areolar 2 MYH7B 6124 93% . MYH8 5966 100% Trismus-Pseudocamptodactyly Syndrome MYH9 6043 100% May-Hegglin Anomaly MYH9 6043 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYH9 6043 100% Sebastian Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 363

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MYH9 6043 100% Fechtner Syndrome MYH9 6043 100% Epstein Syndrome MYH9 6043 100% MYH9-Related Disorders MYH9 6043 100% DFNA17 Nonsyndromic Hearing Loss and Deafness MYH9 6043 100% Choriodal Dystrophy, Central Areolar 2 MYL1 645 99% . MYL10 713 74% . MYL12A 528 100% . MYL12B 531 100% . MYL2 529 100% Familial Hypertrophic Cardiomyopathy MYL2 529 100% MYL2-Related Familial Hypertrophic Cardiomyopathy MYL3 612 100% Familial Hypertrophic Cardiomyopathy MYL3 612 100% MYL3-Related Familial Hypertrophic Cardiomyopathy MYL4 618 100% . MYL5 932 79% . MYL6 513 100% . MYL6B 651 100% . MYL7 556 100% . MYL9 531 100% . MYLIP 1366 95% . MYLK 6139 97% Thoracic Aortic Aneurysms and Aortic Dissections MYLK 6139 97% MYLK-Related Thoracic Aortic Aneurysms and Aortic Dissections MYLK2 1839 97% Familial Hypertrophic Cardiomyopathy MYLK2 1839 97% Hypertrophic Cardiomyopathy, Midventricular, Digenic MYLK3 2512 100% . MYLK4 1211 100% . MYLPF 538 100% . MYNN 1861 100% . MYO10 6341 100% . MYO15A 10849 89% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MYO15A 10849 89% DFNB 3 Nonsyndromic Hearing Loss and Deafness MYO16 6051 94% . MYO18A 6329 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 364

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MYO18B 7872 99% . MYO19 3411 100% . MYO1A 3240 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYO1A 3240 100% DFNA48 Nonsyndromic Hearing Loss and Deafness MYO1B 3531 100% . MYO1C 3502 93% . MYO1D 3109 98% . MYO1E 3439 99% . MYO1F 3409 95% . MYO1G 3145 87% . MYO1H 3193 100% . MYO3A 4983 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MYO3A 4983 100% DFNB30 Nonsyndromic Hearing Loss and Deafness MYO3B 4166 100% . MYO5A 5732 99% . MYO5B 5707 99% Diarrhea with Microvillus Atrophy 2 MYO5C 5393 99% . MYO6 3994 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYO6 3994 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MYO6 3994 100% DFNA22 Nonsyndromic Hearing Loss and Deafness MYO6 3994 100% DFNB37 Nonsyndromic Hearing Loss and Deafness MYO7A 7449 91% Usher Syndrome Type 1 MYO7A 7449 91% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant MYO7A 7449 91% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive MYO7A 7449 91% Usher Syndrome Type 1B MYO7A 7449 91% DFNA11 Nonsyndromic Hearing Loss and Deafness MYO7A 7449 91% DFNB 2 Nonsyndromic Hearing Loss and Deafness MYO7B 6535 95% . MYO9A 7811 100% . MYO9B 6784 95% . MYOC 1527 100% Glaucoma 1, Open Angle, A MYOC 1527 100% Primary Open Angle Glaucoma (Adult Onset) MYOC 1527 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 365

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) MYOCD 3340 100% . MYOD1 975 99% . MYOF 6402 100% . MYOG 687 88% . MYOM1 5206 100% . MYOM2 4542 100% . MYOM3 4458 95% . MYOT 1639 100% Limb-Girdle Muscular Dystrophies, Autosomal Dominant MYOT 1639 100% Limb-Girdle Muscular Dystrophy Type 1A MYOT 1639 100% Myofibrillar Myopathy MYOT 1639 100% Myotilinopathy MYOT 1639 100% Spheroid Body Myopathy MYOT 1639 100% Choriodal Dystrophy, Central Areolar 2 MYOZ1 920 100% . MYOZ2 815 100% MYOZ2-Related Familial Hypertrophic Cardiomyopathy MYOZ3 780 94% . MYPN 4039 100% . MYPOP 1208 45% . MYRIP 2644 100% . MYSM1 2567 100% . MYT1 3450 99% . MYT1L 3635 93% . MYZAP 1453 95% . MZB1 586 88% . MZF1 2225 92% . MZT1 261 98% . MZT2A 489 54% . MZT2B 489 50% . N4BP1 2719 93% . N4BP2 5377 100% . N4BP2L1 1088 96% . N4BP2L2 5231 100% . N4BP3 1651 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 366

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) N6AMT1 669 100% . N6AMT2 661 100% . NAA10 803 95% Ogden Syndrome NAA11 694 100% . NAA15 2681 100% . NAA16 2992 100% . NAA20 672 100% . NAA25 3015 98% . NAA30 1105 100% . NAA35 2266 100% . NAA38 307 89% . NAA40 746 100% . NAA50 530 100% . NAA60 749 100% . NAAA 1127 96% . NAALAD2 2299 100% . NAALADL1 2295 91% . NAALADL2 2444 100% . NAB1 1492 100% . NAB2 1606 86% . NACA 17455 99% . NACA2 652 100% . NACAD 4721 71% . NACC1 1604 80% . NACC2 1784 48% . NADK 2366 92% . NADKD1 1463 88% . NADSYN1 2205 94% . NAE1 1800 98% . NAF1 1658 89% . NAGA 1272 97% Schindler Disease NAGA 1272 97% Kanzaki disease NAGA 1272 97% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 367

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NAGK 1213 85% . NAGLU 2256 83% Mucopolysaccharidosis Type IIIB NAGLU 2256 83% Choriodal Dystrophy, Central Areolar 2 NAGPA 1588 82% . NAGS 1633 72% N-Acetylglutamate Synthase Deficiency NAIF1 992 100% . NAIP 4458 17% . NALCN 5389 100% . NAMPT 1520 96% . NANOG 934 100% . NANOGNB 583 90% . NANOS1 883 37% . NANOS2 421 100% . NANOS3 587 99% . NANP 755 100% . NANS 1104 99% . NAP1L1 1232 100% . NAP1L2 1387 100% . NAP1L3 1525 100% . NAP1L4 1184 100% . NAP1L5 553 100% . NAPA 932 100% . NAPB 941 93% . NAPEPLD 1198 100% . NAPG 987 100% . NAPRT1 1669 80% . NAPSA 1299 100% . NARF 1705 91% . NARFL 1475 88% . NARG2 3133 100% . NARS 1703 100% . NARS2 1589 98% . NASP 2427 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 368

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NAT1 1954 90% . NAT10 3366 100% . NAT14 629 29% . NAT16 1122 92% . NAT2 877 100% . NAT6 1864 100% . NAT8 688 100% . NAT8B 688 100% . NAT8L 921 57% . NAT9 648 100% . NAV1 6142 99% . NAV2 7866 99% . NAV3 7248 100% . NBAS 7324 100% . NBEA 9195 100% . NBEAL1 8301 100% . NBEAL2 8481 99% Gray Platelet Syndrome NBL1 860 86% . NBN 2329 100% Nijmegen Breakage Syndrome NBN 2329 100% Choriodal Dystrophy, Central Areolar 2 NBPF1 3517 100% . NBPF10 10998 49% . NBPF11 5688 14% . NBPF14 2854 80% . NBPF15 2073 74% . NBPF16 4146 54% . NBPF24 5426 14% . NBPF3 2126 98% . NBPF4 1973 33% . NBPF6 2064 36% . NBPF7 1298 100% . NBPF9 2907 93% . NBR1 2981 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 369

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NCALD 594 100% . NCAM1 2912 100% . NCAM2 2586 100% . NCAN 4022 96% . NCAPD2 4330 100% . NCAPD3 4637 100% . NCAPG 3132 97% . NCAPG2 3540 100% . NCAPH 2298 96% . NCAPH2 2190 89% . NCBP1 2465 99% . NCBP2 816 100% . NCCRP1 852 61% . NCDN 2363 94% . NCEH1 1698 100% . NCF1 1217 59% Chronic Granulomatous Disease (3292) NCF1 1217 59% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type I NCF1 1217 59% Chronic Granulomatous Disease NCF1 1217 59% Choriodal Dystrophy, Central Areolar 2 NCF2 1641 100% Chronic Granulomatous Disease (3292) NCF2 1641 100% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type II NCF2 1641 100% Chronic Granulomatous Disease NCF2 1641 100% Choriodal Dystrophy, Central Areolar 2 NCF4 2193 98% Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type III NCF4 2193 98% Chronic Granulomatous Disease NCK1 1184 97% . NCK2 1354 100% . NCKAP1 3533 100% . NCKAP1L 3623 100% . NCKAP5 5802 100% . NCKAP5L 4049 98% . NCKIPSD 2337 86% . NCL 2189 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 370

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NCLN 1752 77% . NCOA1 4626 100% . NCOA2 4479 100% . NCOA3 5229 100% . NCOA4 2162 95% . NCOA5 1768 100% . NCOA6 6244 100% . NCOA7 4099 100% . NCOR1 8825 100% . NCOR2 8253 78% . NCR1 998 100% . NCR2 1343 99% . NCR3 745 100% . NCS1 615 89% . NCSTN 2198 100% . NDC80 1993 100% . NDE1 1228 100% Lissencephaly 4 NDEL1 1207 100% . NDFIP1 694 90% . NDFIP2 1168 72% . NDN 970 100% . NDNF 1719 100% . NDNL2 919 99% . NDOR1 2397 97% . NDP 410 68% NDP-Related Retinopathies NDP 410 68% Familial Exudative Vitreoretinopathy NDP 410 68% Choriodal Dystrophy, Central Areolar 2 NDRG1 1245 81% Charcot-Marie-Tooth Neuropathy Type 4 NDRG1 1245 81% Charcot-Marie-Tooth Neuropathy Type 4D NDRG2 1176 100% . NDRG3 1188 100% . NDRG4 1449 83% . NDST1 2705 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 371

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NDST2 2704 99% . NDST3 2674 100% . NDST4 2671 100% . NDUFA1 225 100% Leigh Syndrome (nuclear DNA mutation) NDUFA1 225 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFA10 1108 93% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFA11 820 62% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFA12 454 100% . NDUFA13 455 84% . NDUFA2 339 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFA3 271 98% . NDUFA4 262 100% . NDUFA4L2 280 74% . NDUFA5 371 100% . NDUFA6 477 100% . NDUFA7 358 86% . NDUFA8 535 100% . NDUFA9 1178 98% . NDUFAB1 487 100% . NDUFAF1 1000 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFAF2 526 100% Leigh Syndrome (nuclear DNA mutation) NDUFAF2 526 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFAF3 772 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFAF4 540 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFB1 330 100% . NDUFB10 535 86% . NDUFB11 669 77% . NDUFB2 330 87% . NDUFB3 305 100% . NDUFB4 625 100% . NDUFB5 719 100% . NDUFB6 403 100% . NDUFB7 426 49% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 372

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NDUFB8 581 100% . NDUFB9 556 100% . NDUFC1 243 78% . NDUFC2 668 89% . NDUFC2-KCTD14 1000 93% . NDUFS1 2498 100% Leigh Syndrome (nuclear DNA mutation) NDUFS1 2498 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS1 2498 100% Choriodal Dystrophy, Central Areolar 2 NDUFS2 1550 98% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS3 823 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS4 548 100% Leigh Syndrome (nuclear DNA mutation) NDUFS4 548 100% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS4 548 100% Choriodal Dystrophy, Central Areolar 2 NDUFS5 329 100% . NDUFS6 391 89% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS7 674 79% Leigh Syndrome (nuclear DNA mutation) NDUFS7 674 79% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS7 674 79% Choriodal Dystrophy, Central Areolar 2 NDUFS8 657 99% Leigh Syndrome (nuclear DNA mutation) NDUFS8 657 99% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFS8 657 99% Choriodal Dystrophy, Central Areolar 2 NDUFV1 1511 95% Leigh Syndrome (nuclear DNA mutation) NDUFV1 1511 95% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFV1 1511 95% Choriodal Dystrophy, Central Areolar 2 NDUFV2 782 97% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NDUFV3 1438 96% . NEB 26615 87% Nemaline Myopathy NEB 26615 87% NEB-Related Nemaline Myopathy NEB 26615 87% Choriodal Dystrophy, Central Areolar 2 NEBL 3711 100% . NECAB1 1108 95% . NECAB2 1213 83% . NECAB3 1719 71% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 373

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NECAP1 860 100% . NECAP2 1185 99% . NEDD1 2333 99% . NEDD4 4371 100% . NEDD4L 3146 99% . NEDD8 262 100% . NEDD8-MDP1 610 100% . NEDD9 2619 100% . NEFH 3079 74% . NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 1 NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 2 NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 2E/1F NEFL 1974 99% Charcot-Marie-Tooth Neuropathy Type 1F/2E NEFM 2892 99% . NEGR1 1093 100% . NEIL1 1209 100% . NEIL2 1524 100% . NEIL3 1858 100% . NEK1 3997 100% Short Rib Polydactyly Syndrome, Majewski Type NEK10 2231 98% . NEK11 2244 100% . NEK2 1500 100% . NEK3 1581 100% . NEK4 2590 91% . NEK5 2207 96% . NEK6 1286 94% . NEK7 945 100% . NEK8 2139 98% Nephronophthisis 9 NEK9 3028 93% . NELF 1667 75% NELF-Related Hypogonadotropic Hypogonadism NELL1 2513 100% . NELL2 2873 94% . NEMF 3363 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 374

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NENF 535 66% . NEO1 4502 97% . NES 4882 97% . NET1 1936 93% . NETO1 1680 100% . NETO2 1663 98% . NEU1 1272 100% Mucolipidosis I NEU2 1151 100% . NEU3 1398 93% . NEU4 1932 93% . NEURL 1749 80% . NEURL1B 1688 26% . NEURL2 866 93% . NEURL4 4985 98% . NEUROD1 1075 100% Maturity-Onset Diabetes of the Young Type 6 NEUROD2 1153 96% . NEUROD4 1000 100% . NEUROD6 1018 100% . NEUROG1 718 99% . NEUROG2 823 99% . NEUROG3 649 100% . NEXN 2076 100% Dilated Cardiomyopathy NEXN 2076 100% NEXN-Related Dilated Cardiomyopathy NEXN 2076 100% NEXN-Related Familial Hypertrophic Cardiomyopathy NF1 8958 99% Neurofibromatosis 1 NF1 8958 99% Neurofibromatosis-Noonan Syndrome NF1 8958 99% Watson Syndrome NF1 8958 99% Familial Spinal Neurofibromatosis NF1 8958 99% Choriodal Dystrophy, Central Areolar 2 NF2 1892 92% Neurofibromatosis 2 NF2 1892 92% Choriodal Dystrophy, Central Areolar 2 NFAM1 837 91% . NFASC 4406 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 375

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NFAT5 5357 100% . NFATC1 4174 95% . NFATC2 2940 97% . NFATC2IP 1292 70% . NFATC3 3624 97% . NFATC4 5548 94% . NFE2 1130 100% . NFE2L1 2339 100% . NFE2L2 2305 98% . NFE2L3 2101 80% . NFIA 1922 88% . NFIB 1641 100% . NFIC 1668 94% . NFIL3 1393 100% . NFIX 1362 95% . NFKB1 3047 100% . NFKB2 2920 83% . NFKBIA 978 98% Ectodermal Dysplasia, Anhidrotic, with T-cell Immunodeficiency NFKBIB 1253 91% . NFKBID 978 96% . NFKBIE 1527 55% . NFKBIL1 1669 83% . NFKBIZ 2349 90% . NFRKB 4395 100% . NFS1 1426 93% . NFU1 1024 99% Multiple Mitochondrial Dysfunctions Syndrome 1 NFX1 3684 98% . NFXL1 2824 92% . NFYA 1080 100% . NFYB 652 100% . NFYC 1392 100% . NGB 472 70% . NGDN 1070 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 376

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NGEF 2300 95% . NGF 730 100% Hereditary Sensory and Autonomic Neuropathy Type V NGFR 1308 92% . NGFRAP1 680 100% . NGLY1 2298 98% . NGRN 888 100% . NHEJ1 928 100% . NHLH1 406 100% . NHLH2 412 97% . NHLRC1 1192 100% Progressive Myoclonus Epilepsy, Lafora Type NHLRC1 1192 100% NHLRC1-Related Lafora Disease NHLRC2 2225 92% . NHLRC3 1072 100% . NHLRC4 376 100% . NHP2 608 100% Dyskeratosis Congenita NHP2 608 100% NHP2-Related Dyskeratosis Congenita NHP2L1 406 100% . NHS 5030 90% Nance-Horan Syndrome NHS 5030 90% Cataract, Congenital, X-linked NHSL1 5059 97% . NHSL2 3710 55% . NICN1 666 97% . NID1 3824 98% . NID2 4216 100% . NIF3L1 1787 100% . NIM1 1323 100% . NIN 6865 97% . NINJ1 471 83% . NINJ2 579 100% . NINL 4241 100% . NIP7 563 100% . NIPA1 1062 93% Spastic Paraplegia 6 NIPA2 1103 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 377

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NIPAL1 1257 97% . NIPAL2 1155 88% . NIPAL3 1265 100% . NIPAL4 1425 86% Autosomal Recessive Congenital Ichthyosis NIPAL4 1425 86% NIPAL4-Related Autosomal Recessive Congenital Ichthyosis NIPBL 8882 99% Cornelia de Lange Syndrome NIPBL 8882 99% NIPBL-Related Cornelia de Lange Syndrome NIPSNAP1 997 73% . NIPSNAP3A 768 100% . NIPSNAP3B 768 98% . NISCH 4599 99% . NIT1 1657 100% . NIT2 871 100% . NKAIN1 652 83% . NKAIN2 655 100% . NKAIN3 618 91% . NKAIN4 655 58% . NKAP 1284 100% . NKAPL 1213 100% . NKD1 1453 88% . NKD2 1396 72% . NKG7 514 100% . NKIRAS1 591 100% . NKIRAS2 1324 100% . NKPD1 2515 57% . NKRF 2265 99% . NKTR 4453 99% . NKX1-2 941 1% . NKX2-1 1608 78% Benign Hereditary Chorea NKX2-1 1608 78% Choreoathetosis, Hypothyroidism, and Neonatal Respiratory Distress NKX2-2 830 96% . NKX2-3 1103 68% . NKX2-4 1073 60% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 378

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NKX2-5 1118 88% Heterotaxy Syndrome NKX2-5 1118 88% Isolated Nonsyndromic Congenital Heart Disease/Defects NKX2-5 1118 88% Choriodal Dystrophy, Central Areolar 2 NKX2-6 668 51% . NKX2-8 728 71% . NKX3-1 1293 64% . NKX3-2 1010 84% Spondylo-Megaepiphyseal-Metaphyseal Dysplasia NKX6-1 1116 63% . NKX6-2 846 70% . NKX6-3 416 98% . NLE1 1650 97% . NLGN1 2492 100% . NLGN2 2536 84% . NLGN3 2575 97% Autistic Disorder NLGN3 2575 97% Autism Spectrum Disorders NLGN4X 2471 100% Autistic Disorder NLGN4X 2471 100% Autism Spectrum Disorders NLGN4X 2471 100% NLGN4-Related X-Linked Mental Retardation NLGN4Y 2782 100% . NLK 1628 100% . NLN 2167 99% . NLRC3 3356 94% . NLRC4 3107 100% . NLRC5 5789 98% . NLRP1 4662 94% . NLRP10 1976 100% . NLRP11 3138 100% . NLRP12 3322 97% Familial Cold Autoinflammatory Syndrome 2 NLRP13 3176 100% . NLRP14 3326 100% . NLRP2 3805 100% . NLRP3 3434 100% Chronic Infantile Neurological Cutaneous and Articular Syndrome NLRP3 3434 100% Familial Cold Autoinflammatory Syndrome 1 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 379

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NLRP3 3434 100% Muckle-Wells Syndrome NLRP3 3434 100% Choriodal Dystrophy, Central Areolar 2 NLRP4 3021 100% . NLRP5 3663 100% . NLRP6 2711 77% . NLRP7 3356 100% Hydatidiform Mole, Recurrent NLRP8 3187 100% . NLRP9 3012 100% . NLRX1 3128 100% . NMB 626 91% . NMBR 1185 100% . NMD3 1572 100% . NME1 688 100% . NME1-NME2 836 100% . NME2 601 100% . NME3 530 74% . NME4 584 84% . NME5 659 100% . NME6 609 98% . NME7 1291 100% . NME9 828 100% . NMI 952 100% . NMNAT1 856 100% . NMNAT2 1042 97% . NMNAT3 660 100% . NMRAL1 920 100% . NMS 502 100% . NMT1 1539 100% . NMT2 1545 100% . NMU 561 80% . NMUR1 1293 99% . NMUR2 1264 100% . NNAT 258 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 380

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NNMT 807 100% . NNT 3345 100% . NOA1 2125 100% . NOB1 1275 99% . NOBOX 1716 89% . NOC2L 2326 95% . NOC3L 2487 100% . NOC4L 1611 76% . NOD1 2906 100% . NOD2 3171 98% Crohn Disease NOD2 3171 98% Blau Syndrome NOD2 3171 98% Choriodal Dystrophy, Central Areolar 2 NODAL 1056 84% Holoprosencephaly NODAL 1056 84% Heterotaxy Syndrome NODAL 1056 84% NODAL-Related Visceral Heterotaxy NODAL 1056 84% NODAL-Related Holoprosencephaly NOG 703 96% Multiple Synostoses Syndrome 1 NOG 703 96% Proximal Symphalangism NOG 703 96% Tarsal-Carpal Coalition Syndrome NOG 703 96% Stapes Ankylosis with Broad Thumb and Toes NOG 703 96% Brachydactyly, Type B2 NOG 703 96% Choriodal Dystrophy, Central Areolar 2 NOL10 2151 100% . NOL11 2232 100% . NOL12 666 95% . NOL3 1036 88% . NOL4 2295 98% . NOL6 3545 99% . NOL7 806 81% . NOL8 3651 100% . NOL9 2157 88% . NOLC1 2152 100% . NOM1 2627 85% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 381

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NOMO1 3793 93% . NOMO2 4072 49% . NOMO3 3793 50% . NONO 1654 96% . NOP10 203 100% Dyskeratosis Congenita NOP10 203 100% NOP10-Related Dyskeratosis Congenita NOP14 2646 96% . NOP16 557 100% . NOP2 2487 100% . NOP56 1833 99% . NOP58 1650 100% . NOS1 4567 99% . NOS1AP 1917 99% . NOS2 3566 93% . NOS3 3998 82% Cardiovascular Disease Risk Factor (Nitric-Oxide Synthase) NOSIP 938 94% . NOSTRIN 1827 100% . NOTCH1 7804 81% Left Ventricular Outflow Tract Obstruction (LVOTO) NOTCH2 7689 100% NOTCH2-Related Alagille Syndrome NOTCH2 7689 100% Alagille Syndrome NOTCH2 7689 100% Hajdu-Cheney Syndrome NOTCH2NL 727 100% . NOTCH3 7098 74% CADASIL NOTCH3 7098 74% Choriodal Dystrophy, Central Areolar 2 NOTCH4 6132 96% . NOTO 768 46% . NOTUM 1535 80% . NOV 1094 100% . NOVA1 1575 92% . NOVA2 1495 75% . NOX1 1747 100% . NOX3 1759 100% . NOX4 1909 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 382

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NOX5 2729 100% . NOXA1 1670 62% . NOXO1 1353 66% . NOXRED1 1175 100% . NPAS1 1817 66% . NPAS2 2555 100% . NPAS3 2992 90% . NPAS4 2441 100% . NPAT 4356 100% . NPB 386 35% . NPBWR1 991 98% . NPBWR2 1006 100% . NPC1 3937 98% Niemann-Pick Disease Type C1 NPC1 3937 98% Niemann-Pick Disease Type C NPC1 3937 98% Choriodal Dystrophy, Central Areolar 2 NPC1L1 4160 95% . NPC2 476 96% Niemann-Pick Disease Type C2 NPC2 476 96% Niemann-Pick Disease Type C NPC2 476 96% Choriodal Dystrophy, Central Areolar 2 NPDC1 1014 57% . NPEPL1 1620 77% . NPEPPS 2852 99% . NPFF 354 100% . NPFFR1 1309 71% . NPFFR2 1930 100% . NPHP1 2589 100% Nephronophthisis 1 NPHP1 2589 100% Joubert Syndrome and Related Disorders NPHP1 2589 100% Senior-Loken Syndrome NPHP1 2589 100% NPHP1-Related Joubert Syndrome NPHP1 2589 100% Senior-Loken Syndrome 1 NPHP1 2589 100% Choriodal Dystrophy, Central Areolar 2 NPHP3 4101 100% Meckel Syndrome NPHP3 4101 100% Nephronophthisis 3 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 383

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NPHP3 4101 100% Renal-Hepatic-Pancreatic Dysplasia NPHP3 4101 100% NPHP3-Related Meckel Syndrome NPHP4 4397 98% Nephronophthisis 4 NPHP4 4397 98% Senior-Loken Syndrome NPHP4 4397 98% Senior-Loken Syndrome 4 NPHP4 4397 98% Choriodal Dystrophy, Central Areolar 2 NPHS1 3842 95% Congenital Finnish Nephrosis NPHS1 3842 95% Choriodal Dystrophy, Central Areolar 2 NPHS2 1184 91% Steroid-Resistant Nephrotic Syndrome NPHS2 1184 91% Choriodal Dystrophy, Central Areolar 2 NPIP 1085 58% . NPIPL3 7816 38% . NPL 1007 100% . NPLOC4 1895 95% . NPM1 942 100% . NPM2 677 95% . NPM3 557 100% . NPNT 1895 88% . NPPA 468 100% . NPPB 417 100% . NPPC 389 70% . NPR1 3274 78% . NPR2 3299 100% Acromesomelic Dysplasia, Maroteaux Type NPR3 1744 92% . NPRL2 1187 99% . NPRL3 2053 89% . NPS 282 100% . NPSR1 1265 100% . NPTN 1255 100% . NPTX1 1319 88% . NPTX2 1316 67% . NPTXR 1523 62% . NPVF 603 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 384

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NPW 506 41% . NPY 306 100% . NPY1R 1163 100% . NPY2R 1150 100% . NPY5R 1342 100% . NQO1 849 100% . NQO2 720 100% . NR0B1 1421 93% X-Linked Adrenal Hypoplasia Congenita NR0B1 1421 93% Isolated X-Linked Adrenal Hypoplasia Congenita NR0B1 1421 93% Complex Glycerol Kinase Deficiency NR0B1 1421 93% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis NR0B1 1421 93% NR0B1-Related 46,XY DSD and 46,XY CGD NR0B1 1421 93% Choriodal Dystrophy, Central Areolar 2 NR0B2 782 100% . NR1D1 2040 100% . NR1D2 2043 99% . NR1H2 1415 87% . NR1H3 1573 99% . NR1H4 1600 100% . NR1I2 1960 100% . NR1I3 1483 100% . NR2C1 1942 100% . NR2C2 1904 100% . NR2C2AP 440 100% . NR2E1 1194 96% . NR2E3 1636 93% Retinitis Pigmentosa, Autosomal Recessive NR2E3 1636 93% Retinitis Pigmentosa NR2E3 1636 93% NR2E3-Related Retinitis Pigmentosa NR2E3 1636 93% Enhanced S-Cone Syndrome NR2F1 1284 89% . NR2F2 1836 93% . NR2F6 1231 60% . NR3C1 11046 100% Glucocorticoid Resistance UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 385

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NR3C2 2987 100% Pseudohypoaldosteronism Type 1, Dominant NR3C2 2987 100% Choriodal Dystrophy, Central Areolar 2 NR4A1 2701 100% . NR4A2 1821 100% Parkinson Disease NR4A3 3232 79% . NR5A1 1410 90% NR5A1-Related 46,XY DSD and 46,XY CGD NR5A1 1410 90% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis NR5A1 1410 90% Spermatogenic Failure 8 NR5A1 1410 90% Choriodal Dystrophy, Central Areolar 2 NR5A2 1658 100% . NR6A1 1962 92% . NRAP 5361 100% . NRARP 349 99% . NRAS 586 100% Noonan Syndrome NRAS 586 100% NRAS-Related Noonan Syndrome NRBF2 880 100% . NRBP1 1676 100% . NRBP2 1578 53% . NRCAM 4035 100% . NRD1 4085 100% . NREP 471 46% . NRF1 1552 100% . NRG1 4331 87% . NRG2 2684 61% . NRG3 2402 95% . NRG4 368 100% . NRGN 245 92% . NRIP1 3481 100% . NRIP2 870 100% . NRIP3 754 78% . NRK 4865 99% . NRL 722 68% Retinitis Pigmentosa, Autosomal Dominant NRL 722 68% Retinitis Pigmentosa UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 386

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NRL 722 68% NRL-Related Retinitis Pigmentosa NRM 805 87% . NRN1 441 100% . NRN1L 510 99% . NRP1 3311 98% . NRP2 3597 100% . NRSN1 596 100% . NRSN2 623 100% . NRTN 602 48% Hirschsprung Disease NRTN 602 48% NRTN-Related Hirschsprung Disease NRTN 602 48% Choriodal Dystrophy, Central Areolar 2 NRXN1 5048 99% Pitt-Hopkins-Like Syndrome 2 NRXN2 5545 76% . NRXN3 3692 100% . NSA2 807 100% . NSD1 10041 100% Sotos Syndrome NSD1 10041 100% Weaver Syndrome 1 NSDHL 1150 100% NSDHL-Related Disorders NSF 2319 56% . NSFL1C 1398 93% . NSL1 1031 91% . NSMAF 3034 93% . NSMCE1 829 100% . NSMCE2 768 100% . NSMCE4A 1277 78% . NSRP1 1705 99% . NSUN2 2380 96% Mental Retardation, Nonsyndromic NSUN3 1047 100% . NSUN4 1527 100% . NSUN5 1926 100% . NSUN6 1454 100% . NSUN7 2201 100% . NT5C 785 78% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 387

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NT5C1A 1131 100% . NT5C1B 2548 100% . NT5C1B-RDH14 3322 100% . NT5C2 1754 100% . NT5C3 1087 98% . NT5C3L 939 97% . NT5DC1 1416 100% . NT5DC2 1855 86% . NT5DC3 1703 88% . NT5E 1761 97% . NT5M 707 89% . NTAN1 973 91% . NTF3 1620 100% . NTF4 637 85% . NTHL1 963 96% . NTM 1547 100% . NTN1 1839 79% . NTN3 1767 71% . NTN4 1927 97% . NTN5 1494 70% . NTNG1 1782 99% . NTNG2 1621 89% . NTPCR 593 100% . NTRK1 2667 84% Hereditary Sensory and Autonomic Neuropathy Type IV NTRK1 2667 84% NTRK1-Related Familial Medullary Thyroid Carcinoma NTRK1 2667 84% Choriodal Dystrophy, Central Areolar 2 NTRK2 2664 100% . NTRK3 2854 100% . NTS 529 100% . NTSR1 1273 97% . NTSR2 1249 84% . NUAK1 2014 98% . NUAK2 1915 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 388

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NUB1 1971 100% . NUBP1 1007 95% . NUBP2 844 95% . NUBPL 1102 98% Mitochondrial Respiratory Chain Complex I Deficiency (nuclear genes) NUCB1 1434 100% . NUCB2 1311 100% . NUCKS1 760 100% . NUDC 1032 92% . NUDCD1 1827 98% . NUDCD2 490 100% . NUDCD3 1110 99% . NUDT1 724 91% . NUDT10 503 100% . NUDT11 503 100% . NUDT12 1413 100% . NUDT13 1091 100% . NUDT14 689 88% . NUDT15 507 72% . NUDT16 2097 85% . NUDT16L1 1279 81% . NUDT17 1019 77% . NUDT18 1322 61% . NUDT19 1140 85% . NUDT2 452 100% . NUDT21 712 100% . NUDT22 932 97% . NUDT3 539 100% . NUDT4 658 79% . NUDT5 696 100% . NUDT6 1030 100% . NUDT7 1106 100% . NUDT8 535 96% . NUDT9 1329 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 389

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NUF2 1447 100% . NUFIP1 1528 100% . NUFIP2 2104 100% . NUMA1 6448 100% . NUMB 1996 100% . NUMBL 1870 65% . NUP107 2890 100% . NUP133 3575 100% . NUP153 4516 100% . NUP155 4458 100% . NUP160 4455 100% . NUP188 5426 99% . NUP205 6211 100% . NUP210 5824 98% . NUP210L 5827 100% . NUP214 6417 100% . NUP35 1017 100% . NUP37 1017 100% . NUP43 1175 100% . NUP50 1523 100% . NUP54 1572 97% . NUP62 1573 100% . NUP62CL 579 100% . NUP85 2047 100% . NUP88 2294 100% . NUP93 2677 100% . NUP98 5936 100% . NUPL1 1864 100% . NUPL2 1300 100% . NUPR1 506 100% . NUS1 902 60% . NUSAP1 1854 100% . NUTF2 400 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 390

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) NVL 2862 100% . NWD1 4367 98% . NXF1 2168 100% . NXF2 3930 29% . NXF2B 3930 29% . NXF3 1672 100% . NXF5 1154 99% . NXN 1340 89% . NXNL1 647 70% . NXNL2 589 77% . NXPH1 824 100% . NXPH2 803 93% . NXPH3 767 93% . NXPH4 935 97% . NXT1 427 100% . NXT2 794 98% . NYAP1 2550 79% . NYAP2 1982 100% . NYNRIN 5729 99% . NYX 1454 41% Congenital Stationary Night Blindness, X-Linked NYX 1454 41% NYX-Related X-Linked Congenital Stationary Night Blindness O3FAR1 1150 93% . OAF 838 89% . OAS1 1948 100% . OAS2 2809 100% . OAS3 3328 99% . OASL 1721 100% . OAT 1585 100% Ornithine Aminotransferase Deficiency OAT 1585 100% Choriodal Dystrophy, Central Areolar 2 OAZ1 708 95% . OAZ2 591 96% . OAZ3 911 100% . OBFC1 1143 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 391

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OBFC2A 715 100% . OBFC2B 660 100% . OBP2A 537 98% . OBP2B 537 98% . OBSCN 25533 93% . OBSL1 6227 88% 3-M Syndrome OBSL1 6227 88% 3-M Syndrome, OBSL1-Related OC90 1486 100% . OCA2 2609 100% Oculocutaneous Albinism Type 2 OCA2 2609 100% Choriodal Dystrophy, Central Areolar 2 OCEL1 819 98% . OCIAD1 1064 99% . OCIAD2 575 100% . OCLM 139 100% . OCLN 1767 97% Band-Like Calcification with Simplified Gyration and Polymicrogyria OCM 346 100% . OCM2 346 100% . OCRL 2802 98% Lowe Syndrome OCRL 2802 98% Dent Disease OCRL 2802 98% Dent Disease 2 OCRL 2802 98% Choriodal Dystrophy, Central Areolar 2 ODAM 880 100% . ODC1 1426 100% . ODF1 761 100% . ODF2 3806 97% . ODF2L 2155 100% . ODF3 789 90% . ODF3B 786 57% . ODF3L1 841 100% . ODF3L2 886 42% . ODF4 786 100% . ODZ1 8484 100% . ODZ2 8414 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 392

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ODZ3 8208 100% . ODZ4 8430 92% . OFD1 3131 100% Oral-Facial-Digital Syndrome Type I OFD1 3131 100% Joubert Syndrome and Related Disorders OFD1 3131 100% OFD1-Related Joubert Syndrome OFD1 3131 100% Simpson-Golabi-Behmel Syndrome, Type 2 OFD1 3131 100% Choriodal Dystrophy, Central Areolar 2 OGDH 3595 100% . OGDHL 3280 100% . OGFOD1 1681 100% . OGFOD2 897 100% . OGFR 2062 68% . OGFRL1 1384 93% . OGG1 2628 99% . OGN 921 100% . OGT 3414 99% . OIP5 710 100% . OIT3 1674 100% . OLA1 1411 100% . OLAH 989 84% . OLFM1 1438 100% . OLFM2 1389 94% . OLFM3 1401 100% . OLFM4 1553 100% . OLFML1 1221 100% . OLFML2A 1991 93% . OLFML2B 2285 100% . OLFML3 1233 100% . OLIG1 820 32% . OLIG2 976 53% . OLIG3 823 97% . OLR1 992 100% . OMA1 1607 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 393

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OMD 1274 100% . OMG 1327 100% . OMP 496 100% . ONECUT1 1406 98% . ONECUT2 1523 85% . ONECUT3 1493 28% . OOEP 462 100% . OPA1 3168 99% Optic Atrophy Type 1 OPA1 3168 99% Optic Atrophy Type 1 and Deafness OPA1 3168 99% Choriodal Dystrophy, Central Areolar 2 OPA3 953 100% 3-Methylglutaconic Aciduria Type 3 OPA3 953 100% Optic Atrophy Type 3 OPA3 953 100% Choriodal Dystrophy, Central Areolar 2 OPALIN 463 100% . OPCML 1302 100% . OPHN1 2501 99% X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance OPLAH 4140 90% . OPN1LW 1119 86% Blue-Mono-Cone-Monochromatic Type Colorblindness OPN1LW 1119 86% Red-Green Color Vision Defects OPN1LW 1119 86% Choriodal Dystrophy, Central Areolar 2 OPN1MW 2238 34% Blue-Mono-Cone-Monochromatic Type Colorblindness OPN1MW 2238 34% Red-Green Color Vision Defects OPN1MW 2238 34% Choriodal Dystrophy, Central Areolar 2 OPN1MW2 2238 34% . OPN1SW 1067 100% . OPN3 1225 95% . OPN4 1514 90% . OPN5 1093 99% . OPRD1 1131 89% . OPRK1 1155 99% . OPRL1 1125 100% . OPRM1 3533 88% . OPTC 1023 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 394

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OPTN 1786 100% Primary Open Angle Glaucoma (Adult Onset) OPTN 1786 100% Amyotrophic Lateral Sclerosis OPTN 1786 100% OPTN-Related Amyotrophic Lateral Sclerosis OR10A2 916 100% . OR10A3 949 100% . OR10A4 952 100% . OR10A5 958 100% . OR10A6 949 100% . OR10A7 955 100% . OR10AD1 958 100% . OR10AG1 910 100% . OR10C1 943 100% . OR10G2 937 100% . OR10G3 946 100% . OR10G4 940 100% . OR10G7 940 100% . OR10G8 940 100% . OR10G9 940 100% . OR10H1 961 100% . OR10H2 952 100% . OR10H3 955 100% . OR10H4 955 100% . OR10H5 952 100% . OR10J1 967 100% . OR10J3 994 100% . OR10J5 934 100% . OR10K1 946 100% . OR10K2 943 100% . OR10P1 946 100% . OR10Q1 964 100% . OR10R2 1012 100% . OR10S1 1000 100% . OR10T2 949 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 395

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR10V1 934 100% . OR10W1 922 100% . OR10X1 985 100% . OR10Z1 946 100% . OR11A1 952 100% . OR11G2 1042 100% . OR11H1 985 100% . OR11H12 985 100% . OR11H2 985 100% . OR11H4 979 100% . OR11H6 997 100% . OR11L1 973 100% . OR12D2 928 100% . OR12D3 955 100% . OR13A1 991 100% . OR13C2 961 100% . OR13C3 1048 100% . OR13C4 961 100% . OR13C5 961 100% . OR13C8 967 100% . OR13C9 961 100% . OR13D1 1045 100% . OR13F1 964 100% . OR13G1 928 100% . OR13H1 931 100% . OR13J1 943 100% . OR14A16 934 100% . OR14C36 943 100% . OR14I1 940 100% . OR14J1 970 100% . OR1A1 934 100% . OR1A2 934 100% . OR1B1 961 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 396

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR1C1 949 100% . OR1D2 943 100% . OR1D5 943 98% . OR1E1 949 100% . OR1E2 976 100% . OR1F1 943 100% . OR1G1 946 100% . OR1I1 1072 99% . OR1J1 973 100% . OR1J2 946 100% . OR1J4 946 100% . OR1K1 955 100% . OR1L1 937 100% . OR1L3 979 100% . OR1L4 940 100% . OR1L6 940 100% . OR1L8 934 100% . OR1M1 946 100% . OR1N1 940 100% . OR1N2 997 100% . OR1Q1 949 100% . OR1S1 982 100% . OR1S2 982 100% . OR2A1 1874 67% . OR2A12 937 100% . OR2A14 937 100% . OR2A2 961 100% . OR2A25 937 100% . OR2A4 937 88% . OR2A42 1874 67% . OR2A5 940 100% . OR2A7 937 98% . OR2AE1 976 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 397

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR2AG1 955 100% . OR2AG2 955 100% . OR2AK2 1012 100% . OR2AT4 967 100% . OR2B11 958 100% . OR2B2 1078 100% . OR2B3 946 100% . OR2B6 946 100% . OR2C1 943 100% . OR2C3 967 100% . OR2D2 931 100% . OR2D3 997 100% . OR2F1 958 100% . OR2F2 958 100% . OR2G2 958 100% . OR2G3 934 100% . OR2G6 955 100% . OR2H1 955 100% . OR2H2 943 100% . OR2J2 943 100% . OR2J3 940 100% . OR2K2 955 100% . OR2L13 943 100% . OR2L2 943 100% . OR2L3 943 100% . OR2L8 943 100% . OR2M2 1048 100% . OR2M3 943 100% . OR2M4 940 100% . OR2M5 943 100% . OR2M7 943 100% . OR2S2 964 100% . OR2T1 1114 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 398

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR2T10 943 100% . OR2T11 955 100% . OR2T12 967 100% . OR2T2 979 99% . OR2T27 958 95% . OR2T29 934 34% . OR2T3 961 100% . OR2T33 967 100% . OR2T34 961 99% . OR2T35 976 76% . OR2T4 1051 100% . OR2T5 952 41% . OR2T6 931 100% . OR2T8 943 96% . OR2V2 952 100% . OR2W1 967 100% . OR2W3 949 100% . OR2W5 967 100% . OR2Y1 940 100% . OR2Z1 949 100% . OR3A1 952 100% . OR3A2 970 100% . OR3A3 970 100% . OR4A15 1039 100% . OR4A16 991 100% . OR4A47 934 100% . OR4A5 952 100% . OR4B1 934 100% . OR4C11 937 81% . OR4C12 934 100% . OR4C13 934 100% . OR4C15 1117 100% . OR4C16 937 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 399

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR4C3 994 100% . OR4C45 927 100% . OR4C46 934 100% . OR4C6 934 100% . OR4D1 937 100% . OR4D10 940 100% . OR4D11 940 100% . OR4D2 928 100% . OR4D5 961 100% . OR4D6 949 100% . OR4D9 949 100% . OR4E2 946 100% . OR4F15 943 100% . OR4F16 2829 0% . OR4F17 922 100% . OR4F21 943 82% . OR4F29 2829 0% . OR4F3 2829 0% . OR4F4 922 84% . OR4F5 922 40% . OR4F6 943 100% . OR4K1 940 100% . OR4K13 919 100% . OR4K14 937 100% . OR4K15 1051 100% . OR4K17 1036 100% . OR4K2 949 100% . OR4K5 976 100% . OR4L1 943 100% . OR4M1 946 100% . OR4M2 946 100% . OR4N2 928 100% . OR4N4 955 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 400

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR4N5 931 100% . OR4P4 943 81% . OR4Q3 946 100% . OR4S1 934 100% . OR4S2 940 81% . OR4X1 922 100% . OR4X2 916 100% . OR51A2 946 86% . OR51A4 946 100% . OR51A7 943 100% . OR51B2 943 100% . OR51B4 937 100% . OR51B5 943 100% . OR51B6 943 100% . OR51D1 979 100% . OR51E1 961 100% . OR51E2 967 100% . OR51F1 943 100% . OR51F2 1033 100% . OR51G1 970 100% . OR51G2 949 100% . OR51I1 949 100% . OR51I2 943 100% . OR51L1 952 100% . OR51M1 985 100% . OR51Q1 958 100% . OR51S1 976 100% . OR51T1 1069 100% . OR51V1 970 100% . OR52A1 943 100% . OR52A5 955 100% . OR52B2 976 100% . OR52B4 949 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 401

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR52B6 1012 100% . OR52D1 961 100% . OR52E2 982 100% . OR52E4 943 100% . OR52E6 946 100% . OR52E8 958 100% . OR52H1 967 100% . OR52I1 979 100% . OR52I2 1057 100% . OR52J3 940 100% . OR52K1 949 100% . OR52K2 949 100% . OR52L1 994 100% . OR52M1 958 100% . OR52N1 967 99% . OR52N2 970 100% . OR52N4 970 100% . OR52N5 979 94% . OR52R1 952 100% . OR52W1 967 100% . OR56A1 961 100% . OR56A3 952 100% . OR56A4 1102 100% . OR56A5 946 100% . OR56B1 979 100% . OR56B4 964 100% . OR5A1 952 100% . OR5A2 979 100% . OR5AC2 934 100% . OR5AK2 934 100% . OR5AN1 940 100% . OR5AP2 955 100% . OR5AR1 937 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 402

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR5AS1 979 100% . OR5AU1 1093 100% . OR5B12 949 100% . OR5B17 949 100% . OR5B2 934 100% . OR5B21 934 100% . OR5B3 949 100% . OR5C1 967 100% . OR5D13 949 100% . OR5D14 949 100% . OR5D16 991 100% . OR5D18 946 100% . OR5F1 949 100% . OR5H1 946 100% . OR5H14 937 100% . OR5H15 946 100% . OR5H2 949 100% . OR5H6 982 100% . OR5I1 949 100% . OR5J2 943 100% . OR5K1 931 100% . OR5K2 955 100% . OR5K3 970 100% . OR5K4 970 100% . OR5L1 940 100% . OR5L2 940 100% . OR5M1 952 100% . OR5M10 952 100% . OR5M11 922 100% . OR5M3 928 100% . OR5M8 940 100% . OR5M9 937 100% . OR5P2 973 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 403

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR5P3 940 100% . OR5R1 979 100% . OR5T1 985 100% . OR5T2 1084 100% . OR5T3 1027 100% . OR5V1 970 100% . OR5W2 937 100% . OR6A2 988 100% . OR6B1 940 100% . OR6B2 943 100% . OR6B3 1000 100% . OR6C1 943 100% . OR6C2 943 100% . OR6C3 940 100% . OR6C4 934 100% . OR6C6 949 100% . OR6C65 943 100% . OR6C68 958 100% . OR6C70 943 100% . OR6C74 943 100% . OR6C75 943 100% . OR6C76 943 100% . OR6F1 931 100% . OR6K2 979 100% . OR6K3 952 100% . OR6K6 1036 100% . OR6M1 946 100% . OR6N1 943 100% . OR6N2 958 100% . OR6P1 958 100% . OR6Q1 958 100% . OR6S1 1000 100% . OR6T1 976 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 404

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR6V1 946 100% . OR6X1 943 100% . OR6Y1 982 100% . OR7A10 934 100% . OR7A17 934 100% . OR7A5 964 100% . OR7C1 967 100% . OR7C2 964 100% . OR7D2 943 100% . OR7D4 943 100% . OR7E24 1024 100% . OR7G1 940 100% . OR7G2 1042 100% . OR7G3 943 100% . OR8A1 985 100% . OR8B12 937 100% . OR8B2 946 100% . OR8B3 946 100% . OR8B4 934 100% . OR8B8 940 100% . OR8D1 931 100% . OR8D2 940 100% . OR8D4 949 100% . OR8G1 1910 100% . OR8G2 919 100% . OR8G5 1045 100% . OR8H1 940 100% . OR8H2 943 100% . OR8H3 943 100% . OR8I2 937 100% . OR8J1 955 100% . OR8J3 952 100% . OR8K1 964 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 405

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OR8K3 943 100% . OR8K5 928 100% . OR8S1 1088 100% . OR8U1 934 100% . OR8U8 1925 100% . OR9A2 937 100% . OR9A4 949 100% . OR9G1 922 100% . OR9G4 988 100% . OR9G9 922 100% . OR9I1 949 100% . OR9K2 1012 100% . OR9Q1 937 100% . OR9Q2 949 100% . ORAI1 920 97% . ORAI2 773 96% . ORAI3 896 89% . ORAOV1 434 98% . ORC1 2850 100% Meier-Gorlin Syndrome 1 ORC2 1798 100% . ORC3 2459 100% . ORC4 1538 100% Meier-Gorlin Syndrome 2 ORC5 1617 100% . ORC6 787 97% Meier-Gorlin Syndrome 3 ORM1 630 100% . ORM2 630 100% . ORMDL1 474 100% . ORMDL2 474 100% . ORMDL3 474 100% . OS9 2344 98% . OSBP 2480 90% . OSBP2 2807 96% . OSBPL10 2343 90% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 406

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OSBPL11 2296 100% . OSBPL1A 3208 100% . OSBPL2 1644 100% . OSBPL3 2752 100% . OSBPL5 2724 82% . OSBPL6 3019 100% . OSBPL7 2617 94% . OSBPL8 2904 100% . OSBPL9 2466 100% . OSCAR 1502 34% . OSCP1 1340 100% . OSGEP 1052 100% . OSGEPL1 1273 100% . OSGIN1 1486 97% . OSGIN2 1833 97% . OSM 771 100% . OSMR 3240 100% . OSR1 809 99% . OSR2 1138 100% . OST4 118 0% . OSTalpha 1059 96% . OSTBETA 399 75% . OSTC 466 100% . OSTF1 685 100% . OSTM1 1029 86% OSTM1-Related Autosomal Recessive Osteopetrosis OSTN 414 100% . OTC 1105 100% Ornithine Transcarbamylase Deficiency OTC 1105 100% Choriodal Dystrophy, Central Areolar 2 OTOA 3578 81% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive OTOA 3578 81% DFNB22 Nonsyndromic Hearing Loss and Deafness OTOF 7140 98% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive OTOF 7140 98% OTOF-Related Deafness OTOGL 7267 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 407

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OTOL1 1450 100% . OTOP1 1863 92% . OTOP2 1713 98% . OTOP3 1819 94% . OTOR 403 100% . OTOS 282 99% . OTP 990 72% . OTUB1 844 88% . OTUB2 729 99% . OTUD1 1450 42% . OTUD3 1229 82% . OTUD4 3375 100% . OTUD5 2026 72% . OTUD6A 871 99% . OTUD6B 1000 100% . OTUD7A 2825 73% . OTUD7B 2576 100% . OTX1 1077 100% . OTX2 1086 100% Anophthalmia/Microphthalmia OTX2 1086 100% Syndromic Microphthalmia 5 OTX2 1086 100% OTX2-Related Combined Pituitary Hormone Deficiency OVCA2 692 82% . OVCH1 3517 100% . OVCH2 1755 100% . OVGP1 2081 100% . OVOL1 820 95% . OVOL2 844 71% . OXA1L 1528 100% . OXCT1 1631 100% Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency OXCT1 1631 100% Choriodal Dystrophy, Central Areolar 2 OXCT2 1558 67% . OXER1 1276 92% . OXGR1 1018 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 408

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) OXNAD1 967 100% . OXR1 2989 92% . OXSM 3350 100% . OXSR1 1656 100% . OXT 390 77% . OXTR 1178 92% . P2RX1 1248 97% . P2RX2 3719 98% . P2RX3 1242 93% . P2RX4 1215 98% . P2RX5 1464 100% . P2RX6 1542 98% . P2RX7 1840 97% . P2RY1 1126 100% . P2RY10 1024 100% . P2RY11 1133 100% . P2RY12 1033 100% . P2RY13 1073 100% . P2RY14 1021 100% . P2RY2 1138 100% . P2RY4 1102 99% . P2RY6 991 100% . P2RY8 2168 50% . P4HA1 1844 100% . P4HA2 1728 100% . P4HA3 1687 94% . P4HB 1571 90% . P4HTM 2196 89% . PA2G4 1237 100% . PAAF1 1227 96% . PABPC1 1967 100% . PABPC1L 1901 92% . PABPC1L2A 607 13% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 409

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PABPC1L2B 607 9% . PABPC3 1900 100% . PABPC4 2167 100% . PABPC4L 1291 33% . PABPC5 1153 100% . PABPN1 949 71% Oculopharyngeal Muscular Dystrophy PABPN1L 865 65% . PACRG 915 87% . PACRGL 694 100% . PACS1 2988 93% . PACS2 3104 82% . PACSIN1 1371 91% . PACSIN2 1501 100% . PACSIN3 1311 100% . PADI1 2056 99% . PADI2 2062 93% . PADI3 2059 100% . PADI4 2056 100% . PADI6 2267 93% . PAEP 567 67% . PAF1 1652 97% . PAFAH1B1 1273 100% LIS1-Associated Lissencephaly/Subcortical Band Heterotopia PAFAH1B1 1273 100% Choriodal Dystrophy, Central Areolar 2 PAFAH1B2 1130 74% . PAFAH1B3 716 89% . PAFAH2 1219 100% . PAG1 1323 100% . PAGE1 461 99% . PAGE2 352 94% . PAGE2B 352 94% . PAGE4 325 100% . PAGE5 506 90% . PAH 1411 100% Phenylalanine Hydroxylase Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 410

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PAH 1411 100% Choriodal Dystrophy, Central Areolar 2 PAICS 1339 98% . PAIP1 1927 72% . PAIP2 396 100% . PAIP2B 384 100% . PAK1 1838 100% . PAK1IP1 1219 100% . PAK2 1631 100% . PAK3 1807 100% X-Linked Mental Retardation 30 PAK4 1808 81% . PAK6 2078 100% . PAK7 2192 100% . PALB2 3613 100% Fanconi Anemia PALB2 3613 100% PALB2-Related Fanconi Anemia PALB2 3613 100% PALB2-Related Cancer Susceptibility PALB2 3613 100% Pancreatic Cancer Susceptibility 3 PALLD 4207 87% Pancreatic Cancer Susceptibility 1 PALM 1200 66% . PALM2 1324 99% . PALM2-AKAP2 3357 100% . PALM3 2046 59% . PALMD 1688 100% . PAM 3086 100% . PAM16 398 91% . PAMR1 2262 95% . PAN2 4015 100% . PAN3 2740 85% . PANK1 1857 92% . PANK2 2098 88% Pantothenate Kinase-Associated Neurodegeneration PANK2 2098 88% Choriodal Dystrophy, Central Areolar 2 PANK3 1141 100% . PANK4 2398 92% . PANX1 1301 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 411

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PANX2 2742 78% . PANX3 1195 100% . PAOX 1995 91% . PAPD4 1511 100% . PAPD5 2341 89% . PAPD7 2094 100% . PAPL 1365 100% . PAPLN 3856 92% . PAPOLA 2585 100% . PAPOLB 1918 100% . PAPOLG 2299 100% . PAPPA 4972 92% . PAPPA2 5868 100% . PAPSS1 1923 100% . PAPSS2 1912 99% . PAQR3 960 100% . PAQR4 834 99% . PAQR5 1021 100% . PAQR6 2385 90% . PAQR7 1045 100% . PAQR8 1069 100% . PAQR9 1138 90% . PARD3 4575 99% . PARD3B 3710 94% . PARD6A 1812 100% . PARD6B 1131 94% . PARD6G 1143 71% . PARG 3003 70% . PARK2 1446 99% Parkinson Disease PARK2 1446 99% Parkin Type of Juvenile Parkinson Disease PARK2 1446 99% Choriodal Dystrophy, Central Areolar 2 PARK7 594 100% Parkinson Disease PARK7 594 100% PARK7-Related Parkinson Disease UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 412

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PARL 1180 96% . PARM1 949 100% . PARN 2258 97% . PARP1 3137 100% . PARP10 3122 95% . PARP11 1049 98% . PARP12 2154 86% . PARP14 5474 100% . PARP15 2306 92% . PARP16 996 93% . PARP2 2015 99% . PARP3 1856 97% . PARP4 5307 100% . PARP6 1981 100% . PARP8 2669 100% . PARP9 3033 100% . PARPBP 1780 91% . PARS2 1432 100% . PARVA 1171 100% . PARVB 1460 92% . PARVG 1127 91% . PASD1 2382 100% . PASK 4457 100% . PATE1 401 100% . PATE2 358 100% . PATE3 309 0% . PATE4 309 0% . PATL1 2389 85% . PATL2 1692 1% . PATZ1 2932 100% . PAWR 1047 55% . PAX1 1625 78% . PAX2 1594 97% Renal Coloboma Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 413

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PAX2 1594 97% Anophthalmia/Microphthalmia PAX2 1594 97% Choriodal Dystrophy, Central Areolar 2 PAX3 2450 99% Waardenburg Syndrome Type I PAX3 2450 99% Waardenburg Syndrome Type III PAX3 2450 99% Craniofacial-Deafness-Hand Syndrome PAX3 2450 99% Choriodal Dystrophy, Central Areolar 2 PAX4 1068 98% Maturity-Onset Diabetes of the Young Type 9 PAX5 1216 97% . PAX6 1355 100% Aniridia PAX6 1355 100% Peters Anomaly PAX6 1355 100% Peters Anomaly with Cataract PAX6 1355 100% Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome PAX6 1355 100% Aniridia-Wilms Tumor Contiguous Gene Deletion Syndrome PAX6 1355 100% Isolated Aniridia PAX6 1355 100% PAX6-Related Anophthalmia PAX6 1355 100% Hereditary Keratitis PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome (280725) PAX6 1355 100% Aniridia, Cerebellar Ataxia, And Mental Retardation PAX6 1355 100% Foveal Hypoplasia and Presenile Cataract Syndrome PAX6 1355 100% Choriodal Dystrophy, Central Areolar 2 PAX7 2266 99% . PAX8 1590 92% Congenital Hypothyroidism, Nongoitrous 2 PAX8 1590 92% Congenital Hypothyroidism PAX9 1042 95% Tooth Agenesis, Selective, 3 PAXIP1 3294 89% . PBK 997 100% . PBLD 1148 100% . PBOV1 412 100% . PBRM1 5398 100% . PBX1 1423 86% . PBX2 1329 99% . PBX3 1419 99% . PBX4 1157 84% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 414

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PBXIP1 2236 100% . PC 3617 97% Pyruvate Carboxylase Deficiency PC 3617 97% Choriodal Dystrophy, Central Areolar 2 PCBD1 331 98% BH4-Deficient Hyperphenylalaninemia D PCBD1 331 98% Choriodal Dystrophy, Central Areolar 2 PCBD2 409 78% . PCBP1 1075 100% . PCBP2 1308 100% . PCBP3 1255 100% . PCBP4 1260 94% . PCCA 2283 93% Propionic Acidemia PCCA 2283 93% PCCA-Related Propionic Acidemia PCCA 2283 93% Choriodal Dystrophy, Central Areolar 2 PCCB 1744 89% Propionic Acidemia PCCB 1744 89% PCCB-Related Propionic Acidemia PCCB 1744 89% Choriodal Dystrophy, Central Areolar 2 PCDH1 6102 99% . PCDH10 5898 100% . PCDH11X 6752 99% . PCDH11Y 4741 100% . PCDH12 3571 100% . PCDH15 8962 100% Usher Syndrome Type 1 PCDH15 8962 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive PCDH15 8962 100% Usher Syndrome Type 1F PCDH15 8962 100% DFNB23 Nonsyndromic Hearing Loss and Deafness PCDH17 3496 100% . PCDH18 3424 100% . PCDH19 3648 99% Epileptic Encephalopathy, Early Infantile, 9 PCDH20 2864 98% . PCDH7 7309 93% . PCDH8 5860 79% . PCDH9 3730 100% . PCDHA1 7755 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 415

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PCDHA10 8088 96% . PCDHA11 5345 100% . PCDHA12 5237 100% . PCDHA13 5327 100% . PCDHA2 5429 100% . PCDHA3 5429 100% . PCDHA4 5273 100% . PCDHA5 5381 100% . PCDHA6 7719 100% . PCDHA7 5219 98% . PCDHA8 5369 100% . PCDHA9 5537 98% . PCDHAC1 5393 100% . PCDHAC2 5789 100% . PCDHB1 2461 100% . PCDHB10 2407 100% . PCDHB11 2398 100% . PCDHB12 2392 100% . PCDHB13 2401 100% . PCDHB14 2401 100% . PCDHB15 2368 100% . PCDHB16 2335 100% . PCDHB2 2401 100% . PCDHB3 2395 100% . PCDHB4 2392 100% . PCDHB5 2392 100% . PCDHB6 2389 100% . PCDHB7 2386 100% . PCDHB8 2410 100% . PCDHB9 2397 100% . PCDHGA1 5339 100% . PCDHGA10 5501 100% . PCDHGA11 7941 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 416

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PCDHGA12 5321 100% . PCDHGA2 5339 100% . PCDHGA3 5375 100% . PCDHGA4 5321 100% . PCDHGA5 5279 100% . PCDHGA6 5309 100% . PCDHGA7 5303 100% . PCDHGA8 5321 100% . PCDHGA9 5369 100% . PCDHGB1 5261 100% . PCDHGB2 5267 100% . PCDHGB3 5285 100% . PCDHGB4 5219 97% . PCDHGB5 5309 99% . PCDHGB6 5321 100% . PCDHGB7 5249 100% . PCDHGC3 8175 97% . PCDHGC4 5627 99% . PCDHGC5 5669 98% . PCDP1 1729 100% . PCF11 4732 100% . PCGF1 816 94% . PCGF2 1071 68% . PCGF3 761 89% . PCGF5 807 100% . PCGF6 1093 87% . PCID2 1256 99% . PCIF1 2175 97% . PCK1 1905 100% Phosphoenolpyruvate Carboxykinase Deficiency PCK2 2370 99% Phosphoenolpyruvate Carboxykinase Deficiency PCLO 15762 100% . PCM1 6223 100% . PCMT1 1070 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 417

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PCMTD1 1094 100% . PCMTD2 1234 100% . PCNA 810 97% . PCNP 557 88% . PCNT 10199 96% Microcephalic Osteodysplastic Primordial Dwarfism, Type II PCNT 10199 96% Seckel Syndrome PCNX 7170 100% . PCNXL2 6550 99% . PCNXL3 6245 90% . PCOLCE 1386 91% . PCOLCE2 1284 96% . PCP2 427 85% . PCP4 201 100% . PCP4L1 219 94% . PCSK1 2538 98% Proprotein Convertase-1 Deficiency PCSK1 2538 98% Monogenic Non-Syndromic Obesity, Autosomal Recessive PCSK1N 795 6% . PCSK2 2146 100% . PCSK4 2328 68% . PCSK5 5851 100% . PCSK6 4196 87% . PCSK7 2418 98% . PCSK9 2127 79% Familial Hypercholesterolemia, Autosomal Dominant, 3 PCTP 791 82% . PCYOX1 1542 99% . PCYOX1L 1509 94% . PCYT1A 1136 100% . PCYT1B 1463 94% . PCYT2 1705 89% . PDAP1 570 97% . PDC 909 100% . PDCD1 887 91% . PDCD10 667 100% Familial Cerebral Cavernous Malformation UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 418

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PDCD10 667 100% Familial Cerebral Cavernous Malformation 3 PDCD11 5756 99% . PDCD1LG2 846 100% . PDCD2 1839 81% . PDCD2L 1105 90% . PDCD4 1775 100% . PDCD5 402 85% . PDCD6 600 98% . PDCD6IP 2935 95% . PDCD7 1478 68% . PDCL 918 100% . PDCL2 750 100% . PDCL3 744 99% . PDDC1 695 81% . PDE10A 2458 99% . PDE11A 3211 100% . PDE12 1842 100% . PDE1A 1742 100% . PDE1B 1724 97% . PDE1C 2540 100% . PDE2A 3302 80% . PDE3A 3490 91% . PDE3B 3403 97% . PDE4A 3178 89% . PDE4B 2868 100% . PDE4C 2545 83% . PDE4D 3944 87% . PDE4DIP 9888 99% . PDE5A 3335 100% . PDE6A 2671 100% Retinitis Pigmentosa, Autosomal Recessive PDE6A 2671 100% Retinitis Pigmentosa PDE6A 2671 100% PDE6A-Related Retinitis Pigmentosa PDE6B 2864 98% Retinitis Pigmentosa, Autosomal Recessive UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 419

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PDE6B 2864 98% Retinitis Pigmentosa PDE6B 2864 98% PDE6B-Related Retinitis Pigmentosa PDE6B 2864 98% Congenital Stationary Night Blindness, Autosomal Dominant 2 PDE6B 2864 98% Choriodal Dystrophy, Central Areolar 2 PDE6C 2665 100% Achromatopsia PDE6C 2665 100% Cone-Rod Dystrophy 4 PDE6C 2665 100% Achromatopsia 5 PDE6D 473 100% . PDE6G 276 100% Retinitis Pigmentosa, Autosomal Recessive PDE6G 276 100% Retinitis Pigmentosa PDE6G 276 100% PDE6G-Related Retinitis Pigmentosa PDE6H 264 100% . PDE7A 1597 100% . PDE7B 1405 98% . PDE8A 2639 96% . PDE8B 2746 98% . PDE9A 2179 94% . PDF 740 29% . PDGFA 675 75% . PDGFB 772 94% . PDGFC 1062 100% . PDGFD 1350 100% . PDGFRA 3358 100% Gastrointestinal Stromal Tumor PDGFRA 3358 100% Hypereosinophilic Syndrome PDGFRB 3409 99% . PDGFRL 1152 100% . PDHA1 1508 97% Pyruvate Dehydrogenase E1-Alpha Deficiency PDHA1 1508 97% X-Linked Leigh Syndrome PDHA1 1508 97% Pyruvate Dehydrogenase Complex Deficiency PDHA1 1508 97% Choriodal Dystrophy, Central Areolar 2 PDHA2 1171 100% . PDHB 1700 99% Pyruvate Dehydrogenase E1-Beta Deficiency PDHB 1700 99% Pyruvate Dehydrogenase Complex Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 420

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PDHX 1669 91% E3-Binding Protein (Component X) Deficiency PDHX 1669 91% Pyruvate Dehydrogenase Complex Deficiency PDIA2 1622 92% . PDIA3 1570 100% . PDIA4 1978 95% . PDIA5 1628 97% . PDIA6 1375 97% . PDIK1L 1034 100% . PDILT 1799 100% . PDK1 1355 91% . PDK2 1603 98% . PDK3 1448 96% . PDK4 1280 100% . PDLIM1 1018 98% . PDLIM2 2436 61% . PDLIM3 1319 99% . PDLIM4 1230 92% . PDLIM5 3131 100% . PDLIM7 1544 76% . PDP1 3598 100% Pyruvate Dehydrogenase Phosphatase Deficiency PDP2 1594 100% . PDPK1 1727 54% . PDPN 995 100% . PDPR 2708 100% . PDRG1 422 94% . PDS5A 4352 99% . PDS5B 4480 100% . PDSS1 1296 87% Coenzyme Q10 Deficiency PDSS1 1296 87% PDSS1-Related Coenzyme Q10 Deficiency PDSS2 1232 100% Coenzyme Q10 Deficiency PDSS2 1232 100% PDSS2-Related Coenzyme Q10 Deficiency PDX1 860 67% Maturity-Onset Diabetes of the Young Type 4 PDX1 860 67% Permanent Neonatal Diabetes Mellitus UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 421

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PDX1 860 67% PDX1-Related Permanent Neonatal Diabetes Mellitus PDX1 860 67% Choriodal Dystrophy, Central Areolar 2 PDXDC1 2459 99% . PDXK 983 91% . PDXP 899 53% . PDYN 773 100% Spinocerebellar Ataxia Type23 PDZD11 447 98% . PDZD2 8616 100% . PDZD3 1703 77% . PDZD4 2342 89% . PDZD7 3202 63% . PDZD8 3485 99% . PDZD9 627 94% . PDZK1 1592 96% . PDZK1IP1 361 94% . PDZRN3 3241 86% . PDZRN4 3224 95% . PEA15 405 100% . PEAK1 5257 100% . PEAR1 3202 94% . PEBP1 580 76% . PEBP4 708 100% . PECAM1 62 100% . PECR 944 100% . PEF1 875 100% . PEG10 14127 94% . PEG3 5390 100% . PELI1 1281 100% . PELI2 1287 95% . PELI3 1862 100% . PELO 1166 100% . PELP1 3461 99% . PEMT 851 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 422

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PENK 812 100% . PEPD 1542 80% Prolidase Deficiency PER1 3961 96% . PER2 3856 98% . PER3 3690 100% . PERP 594 100% . PES1 1962 99% . PET112 1726 100% . PET117 254 0% . PEX1 3948 97% Zellweger Syndrome Spectrum PEX1 3948 97% Peroxisome Biogenesis Disorders (PBD) PEX1 3948 97% Choriodal Dystrophy, Central Areolar 2 PEX10 1305 86% Zellweger Syndrome Spectrum PEX10 1305 86% Peroxisome Biogenesis Disorders (PBD) PEX11A 756 92% . PEX11B 814 91% . PEX11G 746 53% . PEX12 1092 100% Zellweger Syndrome Spectrum PEX12 1092 100% Peroxisome Biogenesis Disorders (PBD) PEX13 1228 92% Zellweger Syndrome Spectrum PEX13 1228 92% Peroxisome Biogenesis Disorders (PBD) PEX13 1228 92% Choriodal Dystrophy, Central Areolar 2 PEX14 1170 99% Zellweger Syndrome Spectrum PEX14 1170 99% Peroxisome Biogenesis Disorders (PBD) PEX16 1148 91% Zellweger Syndrome Spectrum PEX16 1148 91% Peroxisome Biogenesis Disorders (PBD) PEX16 1148 91% Choriodal Dystrophy, Central Areolar 2 PEX19 1020 100% Zellweger Syndrome Spectrum PEX19 1020 100% Peroxisome Biogenesis Disorders (PBD) PEX19 1020 100% Choriodal Dystrophy, Central Areolar 2 PEX2 922 100% Zellweger Syndrome Spectrum PEX2 922 100% Peroxisome Biogenesis Disorders (PBD) PEX2 922 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 423

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PEX26 938 90% Zellweger Syndrome Spectrum PEX26 938 90% Peroxisome Biogenesis Disorders (PBD) PEX3 1170 100% Zellweger Syndrome Spectrum PEX3 1170 100% Peroxisome Biogenesis Disorders (PBD) PEX3 1170 100% Choriodal Dystrophy, Central Areolar 2 PEX5 2345 100% Zellweger Syndrome Spectrum PEX5 2345 100% Peroxisome Biogenesis Disorders (PBD) PEX5 2345 100% Choriodal Dystrophy, Central Areolar 2 PEX5L 1941 100% . PEX6 3011 85% Zellweger Syndrome Spectrum PEX6 3011 85% Peroxisome Biogenesis Disorders (PBD) PEX6 3011 85% Choriodal Dystrophy, Central Areolar 2 PEX7 1012 87% Refsum Disease PEX7 1012 87% Rhizomelic Chondrodysplasia Punctata Type 1 PEX7 1012 87% PEX7-Related Refsum Disease PEX7 1012 87% Choriodal Dystrophy, Central Areolar 2 PF4 318 70% . PF4V1 327 100% . PFAS 4125 100% . PFDN1 385 82% . PFDN2 481 100% . PFDN4 421 92% . PFDN5 489 100% . PFDN6 406 100% . PFKFB1 1472 96% . PFKFB2 1644 100% . PFKFB3 1643 97% . PFKFB4 1466 100% . PFKL 2431 91% . PFKM 2749 100% Glycogen Storage Disease Type VII PFKM 2749 100% Choriodal Dystrophy, Central Areolar 2 PFKP 2443 91% . PFN1 435 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 424

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PFN2 537 75% . PFN3 418 89% . PFN4 406 100% . PGA3 1203 37% . PGA4 1203 1% . PGA5 1203 46% . PGAM1 781 100% . PGAM2 774 100% Glycogen Storage Disease Type X PGAM2 774 100% Choriodal Dystrophy, Central Areolar 2 PGAM4 769 100% . PGAM5 1085 67% . PGAP1 2877 100% . PGAP2 1955 96% . PGAP3 995 77% . PGBD1 2454 100% . PGBD2 3553 100% . PGBD3 1786 100% . PGBD4 1762 100% . PGBD5 1396 100% . PGC 1512 80% . PGCP 1447 100% . PGD 1504 100% . PGF 541 85% . PGGT1B 1170 100% . PGK1 1298 100% Phosphoglycerate Kinase 1 Deficiency PGK1 1298 100% Choriodal Dystrophy, Central Areolar 2 PGK2 1258 100% . PGLS 797 59% . PGLYRP1 603 97% . PGLYRP2 1751 94% . PGLYRP3 1054 100% . PGLYRP4 1154 100% . PGM1 2167 100% Congenital Disorders of Glycosylation UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 425

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PGM1 2167 100% Glycogen Storage Disease Type XIV PGM1 2167 100% PGM1-CDG PGM2 1895 96% . PGM2L1 1925 100% . PGM3 2440 100% . PGM5 1748 97% . PGP 974 45% . PGPEP1 650 96% . PGPEP1L 838 97% . PGR 4475 83% . PGRMC1 600 97% . PGRMC2 756 61% . PGS1 1707 91% . PHACTR1 1795 100% . PHACTR2 2007 98% . PHACTR3 2011 88% . PHACTR4 2211 100% . PHAX 1205 100% . PHB 843 98% . PHB2 936 100% . PHC1 3071 92% . PHC2 2840 96% . PHC3 3048 100% . PHEX 2338 100% X-Linked Hypophosphatemia PHEX 2338 100% Choriodal Dystrophy, Central Areolar 2 PHF1 2247 100% . PHF10 1633 94% . PHF11 1162 92% . PHF12 3927 100% . PHF13 919 100% . PHF14 2735 100% . PHF15 2413 97% . PHF16 2512 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 426

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PHF17 3149 100% . PHF19 2222 87% . PHF2 3379 89% . PHF20 3107 100% . PHF20L1 3323 100% . PHF21A 2231 100% . PHF21B 1919 85% . PHF23 1232 98% . PHF3 6180 100% . PHF5A 349 100% . PHF6 1624 100% Borjeson-Forssman-Lehmann Syndrome PHF6 1624 100% Choriodal Dystrophy, Central Areolar 2 PHF7 1186 100% . PHF8 3866 94% Siderius X-Linked Mental Retardation Syndrome PHGDH 1650 100% Phosphoglycerate Dehydrogenase Deficiency PHGR1 257 0% . PHIP 5626 99% . PHKA1 3800 100% Phosphorylase Kinase Deficiency PHKA1 3800 100% Muscle Glycogenosis, X-Linked PHKA1 3800 100% PHKA1-Related Phosphorylase Kinase Deficiency PHKA2 3840 97% PHKA2-Related Phosphorylase Kinase Deficiency PHKA2 3840 97% Phosphorylase Kinase Deficiency PHKA2 3840 97% Choriodal Dystrophy, Central Areolar 2 PHKB 3560 100% PHKB-Related Phosphorylase Kinase Deficiency PHKB 3560 100% Phosphorylase Kinase Deficiency PHKB 3560 100% Choriodal Dystrophy, Central Areolar 2 PHKG1 1200 99% . PHKG2 1601 94% PHKG2-Related Phosphorylase Kinase Deficiency PHKG2 1601 94% Phosphorylase Kinase Deficiency PHLDA1 1210 85% . PHLDA2 463 84% . PHLDA3 388 99% . PHLDB1 4222 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 427

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PHLDB2 5316 100% . PHLDB3 1983 93% . PHLPP1 5222 79% . PHLPP2 4044 100% . PHOSPHO1 1815 57% . PHOSPHO2 730 100% . PHOSPHO2-KLHL23 1689 100% . PHOX2A 867 33% Congenital Fibrosis of the Extraocular Muscles PHOX2A 867 33% PHOX2A-Related Congenital Fibrosis of the Extraocular Muscles PHOX2B 957 98% Congenital Central Hypoventilation Syndrome PHOX2B 957 98% Neuroblastoma, Susceptibility PHOX2B 957 98% PHOX2B-Related Neuroblastoma, Susceptibility PHPT1 546 100% . PHRF1 5015 99% . PHTF1 2361 100% . PHTF2 2596 100% . PHYH 1226 94% Refsum Disease PHYH 1226 94% PHYH-Related Refsum Disease PHYH 1226 94% Choriodal Dystrophy, Central Areolar 2 PHYHD1 1050 92% . PHYHIP 1009 90% . PHYHIPL 1183 100% . PI15 797 100% . PI16 1416 92% . PI3 362 100% . PI4K2A 1476 92% . PI4K2B 1486 82% . PI4KA 6514 98% . PI4KB 3708 100% . PIAS1 2012 100% . PIAS2 1997 99% . PIAS3 1943 99% . PIAS4 1577 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 428

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PIBF1 2342 100% . PICALM 2368 100% . PICK1 1296 98% . PID1 793 80% . PIDD 2916 88% . PIEZO1 7770 54% . PIEZO2 8467 58% . PIF1 1974 83% . PIGA 1492 99% . PIGB 1713 100% . PIGC 898 100% . PIGF 759 100% . PIGG 3226 100% . PIGH 583 62% . PIGK 1232 100% . PIGL 787 100% . PIGM 1276 100% . PIGN 2908 100% . PIGO 6374 100% . PIGP 651 100% . PIGQ 3141 93% . PIGR 2335 98% . PIGS 1716 100% . PIGT 1967 95% . PIGU 1356 92% . PIGV 1494 100% Hyperphosphatasia with Mental Retardation Syndrome 1 PIGW 1519 100% . PIGX 859 86% . PIGY 573 67% . PIGZ 1748 96% . PIH1D1 909 100% . PIH1D2 1026 100% . PIK3AP1 2486 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 429

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PIK3C2A 5189 100% . PIK3C2B 5033 97% . PIK3C2G 4462 100% . PIK3C3 2764 100% . PIK3CA 3287 100% PI3K/AKT Pathway Megalencephaly Syndromes PIK3CA 3287 100% Megalencephaly-Capillary Malformation (MCAP) Syndrome PIK3CB 3436 100% . PIK3CD 3223 97% . PIK3CG 3349 100% . PIK3IP1 1025 86% . PIK3R1 2468 100% . PIK3R2 2247 80% PI3K/AKT Pathway Megalencephaly Syndromes PIK3R2 2247 80% Megalencephaly-Polymicrogyria- Polydactyly- Hydrocephalus (MPPH) Syndrome PIK3R3 1426 100% . PIK3R4 4153 100% . PIK3R5 3440 97% . PIK3R6 2340 98% . PIKFYVE 6655 100% Corneal Fleck Dystrophy PILRA 976 100% . PILRB 700 100% . PIM1 1052 100% . PIM2 960 86% . PIM3 1005 61% . PIN1 508 65% . PIN4 581 80% . PINK1 1778 79% Parkinson Disease PINK1 1778 79% PINK1 Type of Young-Onset Parkinson Disease PINX1 1015 100% . PION 2689 96% . PIP 457 100% . PIP4K2A 1261 100% . PIP4K2B 1291 100% . PIP4K2C 1509 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 430

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PIP5K1A 1792 100% . PIP5K1B 1675 100% . PIP5K1C 2079 92% . PIP5KL1 1285 59% . PIPOX 1205 100% . PIR 909 100% . PIRT 418 95% . PISD 1156 95% . PITHD1 660 69% . PITPNA 857 99% . PITPNB 860 79% . PITPNC1 1479 100% . PITPNM1 4002 92% . PITPNM2 4146 88% . PITPNM3 3005 97% Cone-Rod Dystrophy 5 PITRM1 3407 97% . PITX1 957 91% PITX1-Related Congenital Clubfoot PITX2 1179 87% Axenfeld-Rieger Syndrome PITX2 1179 87% Cataracts, Autosomal Dominant PITX2 1179 87% Anophthalmia/Microphthalmia PITX2 1179 87% Peters Anomaly PITX2 1179 87% Peters Anomaly with Cataract PITX2 1179 87% Iris Hypoplasia PITX2 1179 87% Anterior Segment Mesenchymal Dysgenesis PITX2 1179 87% Ring Dermoid of Cornea PITX2 1179 87% Choriodal Dystrophy, Central Areolar 2 PITX3 921 72% Cataracts, Autosomal Dominant PITX3 921 72% Anophthalmia/Microphthalmia PITX3 921 72% Peters Anomaly with Cataract PITX3 921 72% Anterior Segment Mesenchymal Dysgenesis PITX3 921 72% Choriodal Dystrophy, Central Areolar 2 PIWIL1 2860 100% . PIWIL2 3010 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 431

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PIWIL3 2958 100% . PIWIL4 2639 99% . PJA1 7744 100% . PJA2 2163 100% . PKD1 13153 84% Polycystic Kidney Disease, Autosomal Dominant PKD1 13153 84% Polycystic Kidney Disease 1, Autosomal Dominant PKD1 13153 84% Choriodal Dystrophy, Central Areolar 2 PKD1L1 8778 99% . PKD1L2 7621 100% . PKD1L3 5315 100% . PKD2 2967 80% Polycystic Kidney Disease, Autosomal Dominant PKD2 2967 80% Polycystic Kidney Disease 2, Autosomal Dominant PKD2 2967 80% Choriodal Dystrophy, Central Areolar 2 PKD2L1 2839 100% . PKD2L2 1898 100% . PKDCC 1510 66% . PKDREJ 6766 93% . PKHD1 12528 100% Polycystic Kidney Disease, Autosomal Recessive PKHD1L1 13044 100% . PKIA 239 100% . PKIB 245 100% . PKIG 239 100% . PKLR 1780 100% Pyruvate Kinase Deficiency PKLR 1780 100% Choriodal Dystrophy, Central Areolar 2 PKM2 2252 100% . PKMYT1 1806 81% . PKN1 2960 83% . PKN2 3043 99% . PKN3 2758 92% . PKNOX1 1351 100% . PKNOX2 1459 100% . PKP1 2300 99% Ectodermal Dysplasia/Skin Fragility Syndrome PKP1 2300 99% PKP1-Related Ectodermal Dysplasia/Skin Fragility Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 432

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PKP2 2702 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy PKP2 2702 97% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9 PKP3 2446 74% . PKP4 3663 100% . PLA1A 1710 100% . PLA2G10 514 29% . PLA2G12A 586 95% . PLA2G12B 604 99% . PLA2G15 1263 99% . PLA2G16 505 100% . PLA2G1B 463 100% . PLA2G2A 451 100% . PLA2G2C 465 100% . PLA2G2D 454 100% . PLA2G2E 445 90% . PLA2G2F 656 99% . PLA2G3 1558 97% . PLA2G4A 2318 100% . PLA2G4B 2426 100% . PLA2G4C 2078 98% . PLA2G4D 2537 88% . PLA2G4E 2423 100% . PLA2G4F 2630 97% . PLA2G5 433 100% . PLA2G6 2485 82% PLA2G6-Associated Neurodegeneration PLA2G7 1370 100% . PLA2R1 4778 98% . PLAA 2444 98% . PLAC1 643 100% . PLAC1L 493 100% . PLAC4 457 45% . PLAC8 360 100% . PLAC8L1 550 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 433

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PLAC9 310 78% . PLAG1 2776 100% . PLAGL1 2644 100% Diabetes Mellitus, 6q24-Related Transient Neonatal PLAGL2 1499 100% . PLAT 1741 100% . PLAU 2149 100% Quebec Platelet Disorder PLAUR 1132 92% . PLB1 4742 98% . PLBD1 1706 93% . PLBD2 1818 77% . PLCB1 3882 100% Epileptic Encephalopathy, Early Infantile, 12 PLCB2 3686 95% . PLCB3 3974 89% . PLCB4 3862 100% . PLCD1 2432 96% . PLCD3 2429 82% . PLCD4 2349 100% . PLCE1 7319 100% Nephrotic Syndrome Type 3 PLCG1 4196 97% . PLCG2 3926 100% . PLCH1 5340 100% . PLCH2 4339 88% . PLCL1 3312 93% . PLCL2 5893 94% . PLCXD1 1992 50% . PLCXD2 1053 100% . PLCXD3 978 100% . PLCZ1 1883 100% . PLD1 3329 100% . PLD2 3056 100% . PLD3 1517 94% . PLD4 1561 72% . PLD5 1790 89% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 434

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PLD6 767 53% . PLDN 539 84% . PLEC 14884 87% Epidermolysis Bullosa with Pyloric Atresia PLEC 14884 87% PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia PLEC 14884 87% Epidermolysis Bullosa Simplex with Muscular Dystrophy PLEC 14884 87% Epidermolysis Bullosa Simplex, Ogna Type PLEC 14884 87% Limb-Girdle Muscular Dystrophy Type 2Q PLEC 14884 87% Choriodal Dystrophy, Central Areolar 2 PLEK 1089 100% . PLEK2 1098 98% . PLEKHA1 1368 100% . PLEKHA2 1691 99% . PLEKHA3 935 100% . PLEKHA4 2533 93% . PLEKHA5 3641 99% . PLEKHA6 3227 89% . PLEKHA7 3458 96% . PLEKHA8 1665 96% . PLEKHB1 844 93% . PLEKHB2 810 100% . PLEKHD1 1573 55% . PLEKHF1 844 86% . PLEKHF2 754 100% . PLEKHG1 4218 100% . PLEKHG2 4233 95% . PLEKHG3 3548 98% . PLEKHG4 4163 100% . PLEKHG4B 3888 91% . PLEKHG5 3482 88% Distal Spinal Muscular Atrophy 4 PLEKHG6 2479 87% . PLEKHG7 1184 100% . PLEKHH1 4207 100% . PLEKHH2 4598 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 435

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PLEKHH3 2434 74% . PLEKHJ1 474 70% . PLEKHM1 3215 100% PLEKHM1-Related Autosomal Recessive Osteopetrosis PLEKHM2 3140 98% . PLEKHM3 2314 100% . PLEKHN1 2072 82% . PLEKHO1 1254 100% . PLEKHO2 1497 96% . PLG 2636 100% . PLGLB1 606 52% . PLGLB2 606 52% . PLIN1 1601 68% . PLIN2 1342 100% . PLIN3 1972 100% . PLIN4 4098 98% . PLIN5 1420 73% . PLK1 1852 97% . PLK1S1 2140 96% . PLK2 2662 100% . PLK3 2001 86% . PLK4 3077 100% . PLLP 565 87% . PLN 163 100% Familial Hypertrophic Cardiomyopathy PLN 163 100% Dilated Cardiomyopathy PLN 163 100% PLN-Related Dilated Cardiomyopathy PLN 163 100% PLN-Related Familial Hypertrophic Cardiomyopathy PLN 163 100% Choriodal Dystrophy, Central Areolar 2 PLOD1 2260 95% Ehlers-Danlos Syndrome, Kyphoscoliotic Form PLOD1 2260 95% Choriodal Dystrophy, Central Areolar 2 PLOD2 2357 97% Bruck Syndrome 2 PLOD3 2293 87% . PLP1 1128 100% PLP1-Related Disorders PLP1 1128 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 436

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PLP2 479 98% . PLRG1 1663 100% . PLS1 1950 100% . PLS3 2121 100% . PLSCR1 989 100% . PLSCR2 699 100% . PLSCR3 916 85% . PLSCR4 1137 100% . PLSCR5 844 90% . PLTP 1675 96% . PLVAP 1353 100% . PLXDC1 1559 92% . PLXDC2 1646 97% . PLXNA1 5815 98% . PLXNA2 5809 100% . PLXNA3 5744 91% . PLXNA4 6123 100% . PLXNB1 6552 91% . PLXNB2 5657 92% . PLXNB3 5988 78% . PLXNC1 4831 92% . PLXND1 5922 81% . PM20D1 1561 98% . PM20D2 1339 77% . PMAIP1 173 64% . PMCH 510 100% . PMEL 2122 100% . PMEPA1 1047 74% . PMF1 1012 100% . PMF1-BGLAP 1105 97% . PMFBP1 3693 100% . PML 4535 97% . PMM1 821 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 437

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PMM2 773 96% Congenital Disorders of Glycosylation PMM2 773 96% PMM2-CDG (CDG-Ia) PMM2 773 96% Choriodal Dystrophy, Central Areolar 2 PMP2 415 100% . PMP22 499 84% Charcot-Marie-Tooth Neuropathy Type 1 PMP22 499 84% Hereditary Neuropathy with Liability to Pressure Palsies PMP22 499 84% Charcot-Marie-Tooth Neuropathy Type 1A PMP22 499 84% Charcot-Marie-Tooth Neuropathy Type 1E PMP22 499 84% Choriodal Dystrophy, Central Areolar 2 PMPCA 1630 96% . PMPCB 1522 100% . PMS1 2847 100% Lynch Syndrome PMS1 2847 100% PMS1-Related Lynch Syndrome PMS1 2847 100% Choriodal Dystrophy, Central Areolar 2 PMS2 2649 100% Lynch Syndrome PMS2 2649 100% Turcot Syndrome PMS2 2649 100% PMS2-Related Lynch Syndrome PMS2 2649 100% PMS2-Related Turcot Syndrome PMS2 2649 100% Choriodal Dystrophy, Central Areolar 2 PMVK 599 100% . PNCK 1378 88% . PNISR 2458 100% . PNKD 1563 83% Familial Paroxysmal Nonkinesigenic Dyskinesia PNKP 1630 85% Epileptic Encephalopathy, Early Infantile, 10 PNLDC1 1635 100% . PNLIP 1446 100% . PNLIPRP1 1452 100% . PNLIPRP2 1464 94% . PNLIPRP3 1452 100% . PNMA1 1066 100% . PNMA2 1099 100% . PNMA3 1396 100% . PNMA5 1351 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 438

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PNMA6A 2408 0% . PNMA6C 1204 0% . PNMA6D 2408 0% . PNMAL1 2700 100% . PNMAL2 1912 94% . PNMT 861 92% . PNN 2190 100% . PNO1 787 100% . PNOC 539 100% . PNP 894 99% Purine Nucleoside Phosphorylase Deficiency PNP 894 99% Choriodal Dystrophy, Central Areolar 2 PNPLA1 2136 95% Autosomal Recessive Congenital Ichthyosis PNPLA1 2136 95% PNPLA1-Related Autosomal Recessive Congenital Ichthyosis PNPLA2 1551 64% Neutral Lipid Storage Disease with Myopathy PNPLA3 1482 99% PNPLA3-Related Susceptibility to Nonalchoholic Fatty Liver Disease PNPLA4 885 100% . PNPLA5 1544 85% . PNPLA6 4644 82% Spastic Paraplegia 39 PNPLA7 4169 87% . PNPLA8 3507 100% . PNPO 814 83% Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency PNPT1 2464 100% . PNRC1 992 85% . PNRC2 424 50% . POC1A 1444 98% . POC1B 1661 99% . POC1B-GALNT4 3609 99% . POC5 1785 100% . PODN 2062 93% . PODNL1 1593 57% . PODXL 1713 87% . PODXL2 1850 79% . POF1B 1834 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 439

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) POFUT1 1242 96% . POFUT2 1732 98% . POGK 1846 100% . POGLUT1 1223 96% . POGZ 4528 100% . POLA1 4537 99% . POLA2 1869 100% . POLB 1064 100% . POLD1 3428 81% . POLD2 1450 99% . POLD3 1449 100% . POLD4 340 81% . POLDIP2 1150 93% . POLDIP3 1302 100% . POLE 7057 99% . POLE2 1865 96% . POLE3 460 95% . POLE4 370 43% . POLG 3808 99% Alpers-Huttenlocher Syndrome POLG 3808 99% POLG-Related Ataxia Neuropathy Spectrum Disorders POLG 3808 99% Autosomal Recessive Progressive External Ophthalmoplegia POLG 3808 99% Autosomal Dominant Progressive External Ophthalmoplegia POLG 3808 99% POLG-Related Disorders POLG 3808 99% Childhood Myocerebrohepatopathy Spectrum Disorders POLG 3808 99% Myoclonic Epilepsy Myopathy Sensory Ataxia POLG 3808 99% Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related POLG2 1490 100% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 4 POLH 2182 100% Xeroderma Pigmentosum POLH 2182 100% POLH-Related Xeroderma Pigmentosum POLI 2263 95% . POLK 2669 100% . POLL 2082 100% . POLM 1529 84% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 440

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) POLN 2799 100% . POLQ 7893 100% . POLR1A 5299 100% . POLR1B 3468 100% . POLR1C 1077 100% POLR1C-Related Treacher Collins Syndrome POLR1C 1077 100% Treacher Collins Syndrome POLR1D 840 99% POLR1D-Related Treacher Collins Syndrome POLR1D 840 99% Treacher Collins Syndrome POLR1E 1308 95% . POLR2A 6029 99% . POLR2B 3625 100% . POLR2C 864 99% . POLR2D 445 100% . POLR2E 661 100% . POLR2F 404 95% . POLR2G 551 100% . POLR2H 473 100% . POLR2I 402 100% . POLR2J 370 100% . POLR2J2 364 24% . POLR2J3 364 41% . POLR2K 189 100% . POLR2L 212 100% . POLR2M 1772 97% . POLR3A 4297 99% Pol III-Related Leukodystrophies POLR3B 3583 100% Pol III-Related Leukodystrophies POLR3C 1661 100% . POLR3D 1229 98% . POLR3E 2207 99% . POLR3F 987 100% . POLR3G 700 100% . POLR3GL 685 99% . POLR3H 639 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 441

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) POLR3K 339 100% . POLRMT 3777 83% . POM121 3003 98% . POM121C 3012 82% . POM121L12 895 100% . POM121L2 3112 100% . POMC 812 88% Proopiomelanocortin Deficiency POMC 812 88% Monogenic Non-Syndromic Obesity, Autosomal Recessive POMGNT1 2273 100% POMGNT1-Related Muscle Diseases POMGNT1 2273 100% Congenital Muscular Dystrophy POMGNT1 2273 100% Limb-Girdle Muscular Dystrophy, Type 3C POMGNT1 2273 100% Choriodal Dystrophy, Central Areolar 2 POMP 450 98% . POMT1 2746 96% Congenital Muscular Dystrophy POMT1 2746 96% POMT1-Related Muscle Diseases POMT2 2337 89% Congenital Muscular Dystrophy POMT2 2337 89% POMT2-Related Muscle Diseases POMZP3 591 97% . PON1 1104 100% . PON2 1232 94% . PON3 1101 100% . POP1 3135 100% . POP4 691 100% . POP5 512 100% . POP7 427 100% . POPDC2 1111 100% . POPDC3 888 100% . POR 2103 95% Cytochrome P450 Oxidoreductase Deficiency PORCN 1442 91% Focal Dermal Hypoplasia POSTN 2603 100% . POT1 2260 100% . POTEA 1545 100% . POTEB 3358 22% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 442

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) POTEC 1673 100% . POTED 1799 41% . POTEE 3288 85% . POTEF 3288 89% . POTEG 1567 85% . POTEH 1678 79% . POTEM 1567 72% . POU1F1 1132 100% POU1F1-Related Combined Pituitary Hormone Deficiency POU1F1 1132 100% Choriodal Dystrophy, Central Areolar 2 POU2AF1 791 99% . POU2F1 2397 97% . POU2F2 1978 86% . POU2F3 1363 98% . POU3F1 1360 47% . POU3F2 1336 80% . POU3F3 1507 56% . POU3F4 1090 97% DFNX2 Nonsyndromic Hearing Loss and Deafness POU4F1 1268 70% . POU4F2 1238 100% . POU4F3 1025 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant POU4F3 1025 100% DFNA15 Nonsyndromic Hearing Loss and Deafness POU5F1 1228 100% . POU5F1B 1084 100% . POU5F2 991 100% . POU6F1 926 98% . POU6F2 2625 100% . PPA1 914 93% . PPA2 1053 100% . PPAN 1470 87% . PPAN-P2RY11 3915 95% . PPAP2A 1038 96% . PPAP2B 960 100% . PPAP2C 1166 90% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 443

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PPAPDC1A 844 93% . PPAPDC1B 1109 93% . PPAPDC2 892 91% . PPAPDC3 824 99% . PPARA 1431 100% . PPARD 1838 99% . PPARG 1778 100% Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension PPARG 1778 100% Cardiovascular Disease Risk Factor (Carotid Intimal Medial Thickness 1) PPARG 1778 100% Familial Partial Lipodystrophy Type 3 PPARG 1778 100% Obesity, PPARG-Related PPARG 1778 100% Choriodal Dystrophy, Central Areolar 2 PPARGC1A 2449 100% . PPARGC1B 3127 96% . PPAT 1598 100% . PPBP 399 100% . PPCDC 635 100% . PPCS 1056 100% . PPDPF 357 100% . PPEF1 2183 100% . PPEF2 2326 100% . PPFIA1 3899 100% . PPFIA2 4315 100% . PPFIA3 3697 89% . PPFIA4 2174 96% . PPFIBP1 3434 100% . PPFIBP2 2723 98% . PPHLN1 2409 100% . PPIA 518 100% . PPIAL4A 1497 16% . PPIAL4B 1497 16% . PPIAL4C 998 0% . PPIAL4D 998 3% . PPIAL4E 499 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 444

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PPIAL4F 998 3% . PPIAL4G 499 100% . PPIB 671 97% PPIB-Related Osteogenesis Imperfecta PPIC 659 94% . PPID 1153 100% . PPIE 1165 98% . PPIF 648 70% . PPIG 2313 100% . PPIH 570 100% . PPIL1 517 100% . PPIL2 1779 99% . PPIL3 620 82% . PPIL4 1531 99% . PPIL6 1050 79% . PPIP5K1 4673 36% . PPIP5K2 3785 100% . PPL 5359 98% . PPM1A 2418 100% . PPM1B 1811 100% . PPM1D 1842 92% . PPM1E 2296 88% . PPM1F 1393 90% . PPM1G 1681 92% . PPM1H 1585 99% . PPM1J 1558 90% . PPM1K 1143 100% . PPM1L 1099 100% . PPM1M 1046 89% . PPM1N 1313 77% . PPME1 1217 100% . PPOX 1482 100% Variegate Porphyria PPOX 1482 100% Choriodal Dystrophy, Central Areolar 2 PPP1CA 1223 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 445

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PPP1CB 1016 94% . PPP1CC 1094 99% . PPP1R10 2895 97% . PPP1R11 393 100% . PPP1R12A 3328 99% . PPP1R12B 4170 100% . PPP1R12C 2437 69% . PPP1R13B 3341 100% . PPP1R13L 2535 71% . PPP1R14A 460 51% . PPP1R14B 460 96% . PPP1R14C 514 91% . PPP1R14D 742 84% . PPP1R15A 2033 100% . PPP1R15B 2150 100% . PPP1R16A 1627 75% . PPP1R16B 1744 97% . PPP1R17 484 100% . PPP1R18 1854 95% . PPP1R1A 544 80% . PPP1R1B 708 98% . PPP1R1C 350 100% . PPP1R2 642 98% . PPP1R21 2431 100% . PPP1R26 3634 96% . PPP1R27 477 75% . PPP1R32 1326 100% . PPP1R35 778 81% . PPP1R36 1317 96% . PPP1R3A 3385 100% . PPP1R3B 862 100% . PPP1R3C 962 100% . PPP1R3D 904 74% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 446

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PPP1R3F 2563 67% . PPP1R3G 1081 23% . PPP1R42 707 100% . PPP1R7 1123 100% . PPP1R8 1378 96% . PPP1R9A 4851 100% . PPP1R9B 2490 81% . PPP2CA 958 100% . PPP2CB 958 99% . PPP2R1A 1830 96% . PPP2R1B 2089 100% . PPP2R2A 1425 97% . PPP2R2B 1506 99% Spinocerebellar Ataxia Type12 PPP2R2C 1380 99% . PPP2R2D 1292 100% . PPP2R3A 3912 100% . PPP2R3B 3560 45% . PPP2R3C 1414 100% . PPP2R4 1223 97% . PPP2R5A 1513 94% . PPP2R5B 1546 90% . PPP2R5C 2125 94% . PPP2R5D 2298 100% . PPP2R5E 1456 100% . PPP3CA 1622 100% . PPP3CB 1723 95% . PPP3CC 1595 97% . PPP3R1 537 99% . PPP3R2 526 100% . PPP4C 956 100% . PPP4R1 3073 98% . PPP4R2 1290 97% . PPP4R4 2795 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 447

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PPP5C 1552 97% . PPP6C 1222 97% . PPP6R1 2738 95% . PPP6R2 3215 93% . PPP6R3 2884 98% . PPPDE1 605 100% . PPPDE2 531 98% . PPRC1 5051 97% . PPT1 957 100% Neuronal Ceroid-Lipofuscinosis, Juvenile PPT1 957 100% Neuronal Ceroid-Lipofuscinosis, Classic Late Infantile PPT1 957 100% Neuronal Ceroid-Lipofuscinosis, Infantile PPT1 957 100% Neuronal Ceroid-Lipofuscinoses PPT1 957 100% PPT1-Related Neuronal Ceroid-Lipofuscinosis PPT2 1158 99% . PPTC7 939 78% . PPWD1 1985 100% . PPY 300 71% . PPYR1 1132 100% . PQBP1 1412 94% Renpenning Syndrome 1 PQLC1 1048 99% . PQLC2 1038 100% . PQLC3 637 77% . PRAC 182 43% . PRADC1 587 90% . PRAF2 549 75% . PRAM1 2053 98% . PRAME 1546 100% . PRAMEF1 1437 100% . PRAMEF10 1437 92% . PRAMEF11 1323 100% . PRAMEF12 1464 100% . PRAMEF13 1437 36% . PRAMEF14 2730 38% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 448

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRAMEF15 2898 6% . PRAMEF16 1437 28% . PRAMEF17 1437 62% . PRAMEF18 2904 34% . PRAMEF19 2904 34% . PRAMEF2 1437 100% . PRAMEF20 2880 11% . PRAMEF21 2880 11% . PRAMEF22 2916 23% . PRAMEF3 1458 6% . PRAMEF4 1449 100% . PRAMEF5 2886 34% . PRAMEF6 2886 45% . PRAMEF7 2874 25% . PRAMEF8 4311 17% . PRAMEF9 2898 6% . PRAP1 614 100% . PRB1 3708 100% . PRB2 1263 100% . PRB3 946 98% . PRB4 756 100% . PRC1 2180 100% . PRCC 1504 83% . PRCD 177 72% Retinitis Pigmentosa, Autosomal Recessive PRCD 177 72% Retinitis Pigmentosa PRCD 177 72% PRCD-Related Retinitis Pigmentosa PRCP 1594 100% . PRDM1 2519 100% . PRDM10 4014 100% . PRDM11 1564 100% . PRDM12 1124 83% . PRDM13 2140 79% . PRDM14 1744 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 449

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRDM15 4648 90% . PRDM16 4038 96% . PRDM2 5522 100% . PRDM4 2450 100% . PRDM5 1957 100% Brittle Cornea Syndrome 2 PRDM6 1816 71% . PRDM7 2045 100% . PRDM8 2082 68% . PRDM9 2725 100% . PRDX1 620 100% . PRDX2 1119 86% . PRDX3 1082 96% . PRDX4 844 95% . PRDX5 669 99% . PRDX6 695 100% . PREB 1290 100% . PRELID1 680 100% . PRELID2 660 88% . PRELP 1157 100% . PREP 2193 98% . PREPL 2367 100% . PREX1 5140 94% . PREX2 5210 99% . PRF1 1676 98% Familial Hemophagocytic Lymphohistiocytosis 2 PRF1 1676 98% Familial Hemophagocytic Lymphohistiocytosis PRG2 1001 93% . PRG3 698 100% . PRG4 4263 100% . PRH1 517 100% . PRH2 513 100% . PRHOXNB 530 50% . PRIC285 8860 77% . PRICKLE1 2524 100% PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 450

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRICKLE2 2563 100% Progressive Myoclonic Epilepsy 5 PRICKLE3 1884 83% . PRICKLE4 1179 100% . PRIM1 1315 100% . PRIM2 1582 100% . PRIMA1 478 70% . PRKAA1 1765 100% . PRKAA2 1695 97% . PRKAB1 841 100% . PRKAB2 847 89% . PRKACA 1122 96% . PRKACB 1300 100% . PRKACG 1060 100% . PRKAG1 1221 100% . PRKAG2 1924 99% Wolff-Parkinson-White Syndrome PRKAG2 1924 99% Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, PRKAG2-Related (268573) PRKAG2 1924 99% Glycogen Storage Disease of Heart, Lethal Congenital PRKAG2 1924 99% Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, PRKAG2-Related PRKAG3 1522 98% . PRKAR1A 1186 100% Carney Complex PRKAR1A 1186 100% Acrodysostosis with Hormone Resistance PRKAR1B 1186 89% . PRKAR2A 1259 89% . PRKAR2B 1301 78% . PRKCA 2087 100% . PRKCB 2247 100% . PRKCD 2099 99% . PRKCDBP 794 91% . PRKCE 2274 100% . PRKCG 2166 91% Spinocerebellar Ataxia Type14 PRKCH 2108 100% . PRKCI 1863 98% . PRKCQ 2189 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 451

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRKCSH 1957 91% Polycystic Liver Disease PRKCZ 1987 80% . PRKD1 2811 97% . PRKD2 2845 93% . PRKD3 2745 100% . PRKDC 12730 99% . PRKG1 2403 100% . PRKG2 2361 100% . PRKRA 1418 97% Dystonia 16 PRKRIP1 579 98% . PRKRIR 2306 96% . PRKX 1109 84% . PRL 704 99% . PRLH 272 69% . PRLHR 1117 98% . PRLR 3937 100% . PRM1 164 100% . PRM2 317 100% . PRM3 313 64% . PRMT1 1160 100% . PRMT10 2586 100% . PRMT2 1522 97% . PRMT3 1747 99% . PRMT5 2045 100% . PRMT6 1132 97% . PRMT7 2147 96% . PRMT8 1225 100% . PRND 535 100% . PRNP 766 100% Gerstmann-Straussler-Scheinker Disease PRNP 766 100% Familial Creutzfeldt-Jakob Disease PRNP 766 100% Fatal Familial Insomnia PRNP 766 100% Genetic Prion Diseases PRNP 766 100% Huntington Disease-Like 1 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 452

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRNP 766 100% Choriodal Dystrophy, Central Areolar 2 PROC 1418 90% Protein C Deficiency PROCA1 1027 100% . PROCR 733 98% . PRODH 2072 74% Schizophrenia PRODH 2072 74% Hyperprolinemia, Type I PRODH 2072 74% Schizophrenia 4 PRODH2 1655 90% . PROK1 330 100% . PROK2 406 75% Kallmann Syndrome PROK2 406 75% Kallmann Syndrome 4 PROKR1 1190 100% . PROKR2 1163 100% Kallmann Syndrome PROKR2 1163 100% Kallmann Syndrome 3 PROL1 755 100% . PROM1 2702 100% Retinitis Pigmentosa, Autosomal Recessive PROM1 2702 100% Retinitis Pigmentosa PROM1 2702 100% Cone-Rod Dystrophy 12 PROM1 2702 100% PROM1-Related Retinitis Pigmentosa PROM2 2597 95% . PROP1 693 100% PROP1-Related Combined Pituitary Hormone Deficiency PROP1 693 100% Choriodal Dystrophy, Central Areolar 2 PROS1 2091 100% Protein S Deficiency PROS1 2091 100% Choriodal Dystrophy, Central Areolar 2 ProSAPiP1 2034 87% . PROSC 860 89% . PROSER1 2887 100% . PROX1 2230 100% . PROX2 3106 100% . PROZ 1235 90% . PRPF18 1069 100% . PRPF19 1579 95% . PRPF3 2112 100% Retinitis Pigmentosa, Autosomal Dominant UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 453

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRPF3 2112 100% Retinitis Pigmentosa PRPF3 2112 100% PRPF 3-Related Retinitis Pigmentosa PRPF31 1552 78% Retinitis Pigmentosa, Autosomal Dominant PRPF31 1552 78% Retinitis Pigmentosa PRPF31 1552 78% PRPF31-Related Retinitis Pigmentosa PRPF38A 979 100% . PRPF38B 1665 100% . PRPF39 2062 100% . PRPF4 1810 100% . PRPF40A 2897 100% . PRPF40B 2837 100% . PRPF4B 3084 99% . PRPF6 2910 100% Retinitis Pigmentosa, Autosomal Dominant PRPF6 2910 100% Retinitis Pigmentosa PRPF6 2910 100% PRPF 6-Related Retinitis Pigmentosa PRPF8 7176 100% Retinitis Pigmentosa, Autosomal Dominant PRPF8 7176 100% Retinitis Pigmentosa PRPF8 7176 100% PRPF 8-Related Retinitis Pigmentosa PRPH 1449 87% . PRPH2 1053 100% Retinitis Pigmentosa, Autosomal Dominant PRPH2 1053 100% Retinitis Pigmentosa PRPH2 1053 100% Patterned Dystrophy of Retinal Pigment Epithelium PRPH2 1053 100% PRPH2-Related Retinitis Pigmentosa PRPH2 1053 100% PRPH2-Related Cone-Rod Dystrophy PRPH2 1053 100% PRPH2-Related Adult-Onset Vitelliform Macular Dystrophy PRPH2 1053 100% PRPH2-Related Fundus Albipunctatus PRPH2 1053 100% Choriodal Dystrophy, Central Areolar 2 PRPS1 1163 100% Charcot-Marie-Tooth Neuropathy X Type 5 PRPS1 1163 100% Charcot-Marie-Tooth Neuropathy X PRPS1 1163 100% PRPS1-Related Disorders PRPS1 1163 100% Arts Syndrome PRPS1 1163 100% Phosphoribosylpyrophosphate Synthetase Superactivity PRPS1 1163 100% PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 454

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRPS1 1163 100% DFNX1 (DFN2) Nonsyndromic Hearing Loss and Deafness PRPS1 1163 100% DFNX1 Nonsyndromic Hearing Loss and Deafness PRPS1L1 961 100% . PRPS2 1191 99% . PRPSAP1 1198 86% . PRPSAP2 1327 100% . PRR11 1119 100% . PRR12 6167 83% . PRR13 846 84% . PRR14 1802 100% . PRR14L 6488 100% . PRR15 394 90% . PRR15L 316 100% . PRR16 854 89% . PRR18 892 50% . PRR19 1079 100% . PRR20A 3370 0% . PRR20B 3370 0% . PRR20C 3370 0% . PRR20D 3370 0% . PRR20E 3370 0% . PRR21 1174 66% . PRR22 1281 67% . PRR23A 805 75% . PRR23B 802 88% . PRR23C 793 78% . PRR24 433 0% . PRR25 1221 71% . PRR3 583 100% . PRR4 726 100% . PRR5 1627 82% . PRR5-ARHGAP8 1755 94% . PRR5L 1544 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 455

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRR7 833 68% . PRR9 355 100% . PRRC1 1370 100% . PRRC2A 6594 100% . PRRC2B 6814 100% . PRRC2C 8586 97% . PRRG1 751 89% . PRRG2 633 69% . PRRG3 708 100% . PRRG4 701 100% . PRRT1 937 62% . PRRT2 2070 100% Familial Paroxysmal Kinesigenic Dyskinesia PRRT3 2958 70% . PRRT4 6370 25% . PRRX1 813 97% . PRRX2 778 63% . PRSS1 764 100% Hereditary Pancreatitis PRSS1 764 100% PRSS1-Related Hereditary Pancreatitis PRSS12 2680 93% Mental Retardation, Autosomal Recessive 1 PRSS16 1593 95% . PRSS2 416 90% . PRSS21 1425 83% . PRSS22 978 88% . PRSS23 1156 100% . PRSS27 897 91% . PRSS3 1088 79% . PRSS33 867 49% . PRSS35 1246 100% . PRSS36 2628 82% . PRSS37 986 100% . PRSS38 1001 100% . PRSS41 977 70% . PRSS42 902 79% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 456

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PRSS45 703 100% . PRSS48 1007 100% . PRSS50 1182 98% . PRSS53 1706 91% . PRSS54 1208 100% . PRSS55 1173 92% . PRSS56 1864 0% . PRSS57 872 60% . PRSS58 746 100% . PRSS8 1056 100% . PRTFDC1 714 98% . PRTG 3533 97% . PRTN3 791 72% . PRUNE 1394 100% . PRUNE2 9343 100% . PRX 4729 92% Charcot-Marie-Tooth Neuropathy Type 4 PRX 4729 92% Charcot-Marie-Tooth Neuropathy Type 4F PRY 912 0% . PRY2 912 0% . PSAP 1991 97% Metachromatic Leukodystrophy due to Saposin B Deficiency PSAP 1991 97% Combined Saposin Deficiency PSAP 1991 97% Krabbe Disease, Atypical, due to Saposin A Deficiency PSAP 1991 97% Gaucher Disease, Atypical, due to Saposin C Deficiency PSAPL1 1570 99% . PSAT1 1149 99% . PSCA 357 88% . PSD 3139 97% . PSD2 2372 100% . PSD3 3244 100% . PSD4 3235 95% . PSEN1 1535 100% Early-Onset Familial Alzheimer Disease PSEN1 1535 100% Dilated Cardiomyopathy PSEN1 1535 100% Alzheimer Disease Type 3 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 457

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PSEN1 1535 100% PSEN1-Related Dilated Cardiomyopathy PSEN1 1535 100% Choriodal Dystrophy, Central Areolar 2 PSEN2 1493 100% Early-Onset Familial Alzheimer Disease PSEN2 1493 100% Dilated Cardiomyopathy PSEN2 1493 100% Alzheimer Disease Type 4 PSEN2 1493 100% PSEN2-Related Dilated Cardiomyopathy PSEN2 1493 100% Choriodal Dystrophy, Central Areolar 2 PSENEN 318 100% . PSG1 1634 100% . PSG11 1028 100% . PSG2 1028 100% . PSG3 1311 100% . PSG4 1284 93% . PSG5 1028 100% . PSG6 1371 95% . PSG7 1284 100% . PSG8 1619 100% . PSG9 1305 94% . PSIP1 1682 100% . PSKH1 1283 100% . PSKH2 1170 99% . PSMA1 1050 100% . PSMA2 737 100% . PSMA3 889 100% . PSMA4 900 100% . PSMA5 893 100% . PSMA6 769 100% . PSMA7 775 90% . PSMA8 1077 100% . PSMB1 750 100% . PSMB10 854 93% . PSMB11 907 100% . PSMB2 892 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 458

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PSMB3 642 100% . PSMB4 823 100% . PSMB5 1495 100% . PSMB6 744 86% . PSMB7 866 100% . PSMB8 994 100% Autoinflammation, Lipodystrophy, and Dermatosis Syndrome PSMB9 684 91% . PSMC1 1367 100% . PSMC2 1486 100% . PSMC3 1368 88% . PSMC3IP 1046 100% . PSMC4 1492 100% . PSMC5 1269 95% . PSMC6 1268 100% . PSMD1 2958 99% . PSMD10 1030 100% . PSMD11 1321 100% . PSMD12 1415 100% . PSMD13 1624 100% . PSMD14 973 100% . PSMD2 2811 95% . PSMD3 1653 86% . PSMD4 1174 98% . PSMD5 1555 100% . PSMD6 1202 99% . PSMD7 1003 98% . PSMD8 1081 84% . PSMD9 696 84% . PSME1 1053 96% . PSME2 764 100% . PSME3 960 100% . PSME4 5716 97% . PSMF1 844 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 459

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PSMG1 895 98% . PSMG2 999 100% . PSMG3 377 100% . PSMG4 715 58% . PSORS1C1 475 100% . PSORS1C2 419 99% . PSPC1 1608 100% . PSPH 698 100% . PSPN 479 43% . PSRC1 1553 99% . PSTK 1071 98% . PSTPIP1 1311 95% Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne PSTPIP2 1061 97% . PTAFR 1033 100% . PTAR1 1241 96% . PTBP1 1816 99% . PTBP2 1652 99% . PTBP3 1995 100% . PTCD1 2157 100% . PTCD2 1207 100% . PTCD3 2166 100% . PTCH1 4839 98% Nevoid Basal Cell Carcinoma Syndrome PTCH1 4839 98% Holoprosencephaly PTCH1 4839 98% PTCH1-Related Holoprosencephaly PTCH1 4839 98% Choriodal Dystrophy, Central Areolar 2 PTCH2 3979 96% . PTCHD1 2679 99% Autism Spectrum Disorders PTCHD2 4259 100% . PTCHD3 2320 100% . PTCRA 1613 74% . PTDSS1 1474 100% . PTDSS2 1512 83% . PTEN 1248 100% Cowden Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 460

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PTEN 1248 100% Bannayan-Riley-Ruvalcaba Syndrome PTEN 1248 100% PTEN Hamartoma Tumor Syndrome (PHTS) PTEN 1248 100% Macrocephaly/Autism Syndrome PTEN 1248 100% VACTERL Association with Hydrocephalus PTEN 1248 100% Choriodal Dystrophy, Central Areolar 2 PTER 1066 100% . PTF1A 995 49% Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis PTGDR 1088 100% . PTGDR2 1192 44% . PTGDS 597 100% . PTGER1 1217 31% . PTGER2 1085 100% . PTGER3 1797 92% . PTGER4 1475 100% . PTGES 471 50% . PTGES2 1316 82% . PTGES3 515 100% . PTGFR 1449 100% . PTGFRN 2676 98% . PTGIR 1169 61% . PTGIS 1543 94% . PTGR1 1057 97% . PTGR2 1092 100% . PTGS1 2135 100% . PTGS2 1855 97% . PTH 356 100% PTH-Related Familial Isolated Hypoparathyroidism PTH 356 100% Familial Isolated Hypoparathyroidism PTH1R 1838 92% Chondrodysplasia, Blomstrand Type (3590) PTH1R 1838 92% Chondrodysplasia, Blomstrand Type PTH1R 1838 92% Metaphyseal Chondrodysplasia, Jansen Type PTH1R 1838 92% Choriodal Dystrophy, Central Areolar 2 PTH2 311 99% . PTH2R 1705 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 461

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PTHLH 981 100% . PTK2 3697 99% . PTK2B 3150 100% . PTK6 1546 84% . PTK7 3448 99% . PTMA 457 99% . PTMS 329 85% . PTN 523 100% . PTOV1 1299 84% . PTP4A1 542 100% . PTP4A2 524 100% . PTP4A3 542 85% . PTPDC1 4048 100% . PTPLA 895 71% . PTPLAD1 1133 100% . PTPLAD2 727 94% . PTPLB 793 80% . PTPMT1 1626 87% . PTPN1 1348 95% . PTPN11 1842 99% PTPN11-Related Noonan Syndrome PTPN11 1842 99% PTPN11-Related LEOPARD Syndrome PTPN11 1842 99% Noonan Syndrome PTPN11 1842 99% LEOPARD Syndrome PTPN11 1842 99% Metachondromatosis PTPN12 2558 100% . PTPN13 7812 100% . PTPN14 3636 100% . PTPN18 1443 81% . PTPN2 1522 97% . PTPN20A 3002 20% . PTPN20B 3002 20% . PTPN21 3597 99% . PTPN22 2643 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 462

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PTPN23 5011 98% . PTPN3 3068 100% . PTPN4 2885 100% . PTPN5 1866 94% . PTPN6 2271 100% . PTPN7 1722 100% . PTPN9 1834 96% . PTPRA 2493 100% . PTPRB 6842 99% . PTPRC 4096 100% . PTPRCAP 629 81% . PTPRD 6071 99% . PTPRE 2218 100% . PTPRF 5852 94% . PTPRG 4458 98% . PTPRH 3428 98% . PTPRJ 4123 98% . PTPRK 4465 99% . PTPRM 4530 100% . PTPRN 3150 97% . PTPRN2 3140 86% . PTPRO 3892 100% . PTPRQ 6552 9% . PTPRR 2145 100% . PTPRS 5995 89% . PTPRT 4511 97% . PTPRU 4751 95% . PTPRZ1 10628 100% . PTRF 1181 99% . PTRH1 665 69% . PTRH2 544 100% . PTRHD1 431 100% . PTS 462 83% 6-Pyruvoyltetrahydropterin Synthase Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 463

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PTS 462 83% Choriodal Dystrophy, Central Areolar 2 PTTG1 629 100% . PTTG1IP 567 81% . PTTG2 580 100% . PTX3 1158 78% . PTX4 1434 100% . PUF60 1828 93% . PUM1 3790 100% . PUM2 3275 100% . PURA 973 89% . PURB 943 99% . PURG 2205 95% . PUS1 1541 87% Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1 PUS1 1541 87% Congenital Sideroblastic Anemia PUS10 1658 100% . PUS3 1458 100% . PUS7 2046 100% . PUS7L 2138 100% . PUSL1 944 64% . PVALB 349 100% . PVR 1699 93% . PVRIG 1001 78% . PVRL1 2024 100% Cleft Lip +/- Cleft Palate PVRL2 2055 84% . PVRL3 2259 93% . PVRL4 1569 100% . PWP1 1566 100% . PWP2 2844 95% . PWWP2A 4106 73% . PWWP2B 3451 87% . PXDC1 716 89% . PXDN 4532 95% . PXDNL 4484 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 464

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) PXK 1809 94% . PXMP2 608 80% . PXMP4 923 100% . PXN 2140 93% . PXT1 417 59% . PYCARD 600 98% . PYCR1 1243 94% PYCR1-Related Cutis Laxa PYCR2 991 93% . PYCRL 885 83% . PYDC1 274 100% . PYDC2 298 100% . PYGB 2612 100% . PYGL 2624 100% Glycogen Storage Disease Type VI PYGL 2624 100% Choriodal Dystrophy, Central Areolar 2 PYGM 2717 99% Glycogen Storage Disease Type V PYGM 2717 99% Choriodal Dystrophy, Central Areolar 2 PYGO1 1272 100% . PYGO2 1233 91% . PYHIN1 1688 100% . PYROXD1 1551 97% . PYROXD2 1810 99% . PYY 306 100% . PZP 4593 100% . QARS 2424 100% . QDPR 763 100% BH4-Deficient Hyperphenylalaninemia C QDPR 763 100% Choriodal Dystrophy, Central Areolar 2 QKI 1492 100% . QPCT 1114 99% . QPCTL 1177 90% . QPRT 910 91% . QRFP 415 100% . QRFPR 1320 100% . QRICH1 2367 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 465

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) QRICH2 5068 100% . QRSL1 1631 99% . QSER1 5252 100% . QSOX1 3085 89% . QSOX2 2145 94% . QTRT1 1252 99% . QTRTD1 1280 100% . R3HCC1 782 57% . R3HDM1 3396 100% . R3HDM2 3019 99% . R3HDM4 839 79% . R3HDML 782 100% . RAB10 627 100% . RAB11A 900 100% . RAB11B 677 94% . RAB11FIP1 3876 98% . RAB11FIP2 1559 100% . RAB11FIP3 2346 71% . RAB11FIP4 1974 69% . RAB11FIP5 1982 98% . RAB12 759 91% . RAB13 644 100% . RAB14 676 100% . RAB15 655 99% . RAB17 659 100% . RAB18 889 92% Warburg Micro Syndrome 3 RAB19 666 100% . RAB1A 642 100% . RAB1B 630 94% . RAB20 713 100% . RAB21 706 96% . RAB22A 613 94% . RAB23 738 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 466

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RAB24 644 100% . RAB25 662 100% . RAB26 807 75% . RAB27A 686 100% Griscelli Syndrome, Type 2 RAB27B 677 100% . RAB28 834 91% . RAB2A 671 93% . RAB2B 755 100% . RAB30 628 100% . RAB31 616 100% . RAB32 690 99% . RAB33A 722 100% . RAB33B 698 100% . RAB34 1555 97% . RAB35 763 93% . RAB36 1046 95% . RAB37 1011 91% . RAB38 648 100% . RAB39A 662 100% . RAB39B 650 100% X-Linked Mental Retardation 72 RAB3A 679 100% . RAB3B 676 100% . RAB3C 704 100% . RAB3D 676 100% . RAB3GAP1 3067 100% Warburg Micro Syndrome 1 RAB3GAP2 4322 100% Warburg Micro Syndrome 2 RAB3GAP2 4322 100% Martsolf Syndrome RAB3IL1 1189 78% . RAB3IP 1911 100% . RAB40A 838 100% . RAB40AL 841 100% . RAB40B 861 100% . RAB40C 1097 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 467

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RAB41 698 100% . RAB42 1093 78% . RAB43 1047 100% . RAB4A 685 95% . RAB4B 670 97% . RAB5A 668 100% . RAB5B 668 100% . RAB5C 841 100% . RAB6A 832 100% . RAB6B 659 100% . RAB6C 769 100% . RAB7A 644 100% Charcot-Marie-Tooth Neuropathy Type 2 RAB7A 644 100% Charcot-Marie-Tooth Neuropathy Type 2B RAB7L1 818 100% . RAB8A 656 100% . RAB8B 656 100% . RAB9A 610 100% . RAB9B 610 100% . RABAC1 578 99% . RABEP1 2661 99% . RABEP2 1762 93% . RABEPK 1147 100% . RABGAP1 3310 100% . RABGAP1L 2643 100% . RABGEF1 1508 100% . RABGGTA 1768 100% . RABGGTB 1032 100% . RABIF 380 95% . RABL2A 719 100% . RABL2B 1016 99% . RABL3 743 100% . RABL5 785 99% . RAC1 664 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 468

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RAC2 603 89% . RAC3 603 93% . RACGAP1 1963 100% . RAD1 869 100% . RAD17 2284 100% . RAD18 1540 100% . RAD21 1948 100% . RAD21L1 1723 100% . RAD23A 1128 100% . RAD23B 1354 97% . RAD50 4039 100% . RAD51 1309 90% . RAD51AP1 1099 100% . RAD51AP2 3492 100% . RAD51B 1237 100% . RAD51C 1438 100% Fanconi Anemia RAD51C 1438 100% RAD51C-Related Familial Susceptibility to Breast-Ovarian Cancer RAD51C 1438 100% RAD51C-Related Fanconi Anemia RAD51D 1210 100% RAD51D-Related Familial Susceptibility to Breast-Ovarian Cancer RAD52 1301 100% . RAD54B 3075 100% . RAD54L 2316 100% . RAD54L2 4488 100% . RAD9A 1339 97% . RAD9B 1338 100% . RADIL 3284 76% . RAE1 1151 100% . RAET1E 1442 100% . RAET1G 1025 79% . RAET1L 757 100% . RAF1 2011 100% Noonan Syndrome RAF1 2011 100% RAF1-Related Noonan Syndrome RAF1 2011 100% LEOPARD Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 469

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RAF1 2011 100% RAF1-Related LEOPARD Syndrome RAG1 3136 100% Omenn Syndrome RAG1 3136 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related RAG2 1588 100% Omenn Syndrome RAG2 1588 100% Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, RAG1/RAG2-Related RAI1 5737 98% Smith-Magenis Syndrome RAI14 3076 98% . RAI2 4791 100% . RALA 637 100% . RALB 637 100% . RALBP1 2004 100% . RALGAPA1 6424 100% . RALGAPA2 5778 98% . RALGAPB 4601 100% . RALGDS 2839 84% . RALGPS1 2056 96% . RALGPS2 1828 100% . RALY 949 100% . RALYL 1234 97% . RAMP1 459 87% . RAMP2 544 81% . RAMP3 459 86% . RAN 675 96% . RANBP1 630 97% . RANBP10 1919 94% . RANBP17 3379 99% . RANBP2 9791 100% Acute Necrotizing Encephalopathy 1, Susceptibility to RANBP3 1904 97% . RANBP3L 1533 95% . RANBP6 16610 100% . RANBP9 2246 85% . RANGAP1 1824 93% . RANGRF 1734 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 470

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RAP1A 579 100% . RAP1B 579 100% . RAP1GAP 2510 82% . RAP1GAP2 2289 92% . RAP1GDS1 2146 100% . RAP2A 560 100% . RAP2B 556 97% . RAP2C 560 100% . RAPGEF1 3398 100% . RAPGEF2 4596 100% . RAPGEF3 3101 87% . RAPGEF4 3176 98% . RAPGEF5 2285 100% . RAPGEF6 5653 100% . RAPGEFL1 1423 96% . RAPH1 3976 99% . RAPSN 1271 78% Congenital Myasthenic Syndromes RAPSN 1271 78% RAPSN-Related Congenital Myasthenic Syndrome RAPSN 1271 78% RAPSN-Related Fetal Akinesia Deformation Sequence RAPSN 1271 78% Choriodal Dystrophy, Central Areolar 2 RARA 1588 97% . RARB 1525 100% . RARG 2006 86% . RARRES1 1080 74% . RARRES2 508 74% . RARRES3 511 100% . RARS 2043 98% . RARS2 1817 100% Pontocerebellar Hypoplasia Type 6 RASA1 3256 95% RASA1-Related Disorders RASA1 3256 95% Parkes Weber Syndrome, RASA1-Related RASA1 3256 95% Capillary Malformation-Arteriovenous Malformation Syndrome RASA1 3256 95% Hereditary Benign Telangiectasia RASA2 2646 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 471

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RASA3 2601 92% . RASA4 2496 17% . RASAL1 2969 86% . RASAL2 4157 97% . RASAL3 3104 70% . RASD1 1418 98% . RASD2 809 100% . RASEF 2291 91% . RASGEF1A 1494 94% . RASGEF1B 1474 100% . RASGEF1C 1453 93% . RASGRF1 4574 100% . RASGRF2 3822 100% . RASGRP1 2462 98% . RASGRP2 1890 88% . RASGRP3 2258 100% . RASGRP4 2706 89% . RASIP1 2936 55% . RASL10A 761 47% . RASL10B 624 98% . RASL11A 745 97% . RASL11B 763 100% . RASL12 821 93% . RASSF1 1442 81% . RASSF10 1528 89% . RASSF2 1021 100% . RASSF3 737 100% . RASSF4 1006 100% . RASSF5 1562 75% . RASSF6 1257 95% . RASSF7 1493 77% . RASSF8 1321 100% . RASSF9 1316 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 472

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RAVER1 2323 85% . RAVER2 2085 88% . RAX 1053 63% Anophthalmia/Microphthalmia RAX 1053 63% RAX-Related Anophthalmia/Microphthalmia RAX 1053 63% Choriodal Dystrophy, Central Areolar 2 RAX2 563 61% Age-Related Macular Degeneration RAX2 563 61% Age-Related Macular Degeneration 6 RAX2 563 61% Cone-Rod Dystrophy 11 RB1 2895 95% Retinoblastoma RB1 2895 95% Choriodal Dystrophy, Central Areolar 2 RB1CC1 5014 100% . RBAK 2161 100% . RBAK-LOC389458 250 100% . RBBP4 1630 99% . RBBP5 2069 96% . RBBP6 5600 99% . RBBP7 1478 100% . RBBP8 2882 100% . RBBP9 581 100% . RBCK1 1645 85% . RBFA 1446 100% . RBFOX1 1695 100% . RBFOX2 1812 92% . RBFOX3 983 31% . RBKS 1001 100% . RBL1 3482 99% . RBL2 3508 95% . RBM10 3071 93% TARP Syndrome RBM11 866 100% . RBM12 2803 100% . RBM12B 3010 100% . RBM14 3703 100% . RBM14-RBM4 1052 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 473

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RBM15 2942 100% . RBM15B 2677 87% . RBM17 1250 100% . RBM18 593 100% . RBM19 2979 100% . RBM20 3740 77% Dilated Cardiomyopathy RBM20 3740 77% RBM20-Related Dilated Cardiomyopathy RBM22 1307 100% . RBM23 1372 96% . RBM24 1082 100% . RBM25 2604 100% . RBM26 3027 100% . RBM27 3267 98% . RBM28 2356 100% . RBM3 494 85% . RBM33 3585 98% . RBM34 1443 100% . RBM38 1044 97% . RBM39 1712 100% . RBM4 1241 91% . RBM41 1450 100% . RBM42 1483 86% . RBM43 1090 100% . RBM44 3215 100% . RBM45 1461 100% . RBM46 1618 100% . RBM47 1798 97% . RBM48 1124 100% . RBM4B 1088 100% . RBM5 2544 100% . RBM6 3531 100% . RBM7 821 100% . RBM8A 549 100% Thrombocytopenia Absent Radius Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 474

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RBMS1 1393 100% . RBMS2 1276 100% . RBMS3 1734 100% . RBMX 1263 100% . RBMX2 993 99% . RBMXL1 1177 100% . RBMXL2 1183 84% . RBMXL3 3208 85% . RBMY1A1 4605 13% . RBMY1B 6140 16% . RBMY1D 6140 16% . RBMY1E 4605 8% . RBMY1F 3070 11% . RBMY1J 3070 11% . RBP1 678 69% . RBP2 421 100% . RBP3 3760 100% Retinitis Pigmentosa, Autosomal Recessive RBP3 3760 100% Retinitis Pigmentosa RBP3 3760 100% RBP3-Related Retinitis Pigmentosa RBP4 626 100% . RBP5 424 96% . RBP7 421 100% . RBPJ 1610 97% . RBPJL 1602 87% . RBPMS 912 93% . RBPMS2 658 85% . RBX1 347 100% . RC3H1 3478 100% . RC3H2 3951 100% . RCAN1 1044 77% Down Syndrome Critical Region RCAN2 610 100% . RCAN3 1283 100% . RCBTB1 1640 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 475

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RCBTB2 1704 100% . RCC1 1496 99% . RCC2 1617 94% . RCCD1 1159 57% . RCE1 1110 93% . RCHY1 947 100% . RCL1 1158 100% . RCN1 1020 92% . RCN2 982 85% . RCN3 1011 64% . RCOR1 1497 79% . RCOR2 1620 72% . RCOR3 2432 98% . RCSD1 1279 94% . RCVRN 615 99% . RD3 596 98% Leber Congenital Amaurosis RD3 596 98% RD3-Related Leber Congenital Amaurosis RDBP 1183 100% . RDH10 1050 73% . RDH11 985 100% . RDH12 979 100% Leber Congenital Amaurosis RDH12 979 100% Retinitis Pigmentosa RDH12 979 100% RDH12-Related Leber Congenital Amaurosis RDH12 979 100% LCA3-Related Leber Congenital Amaurosis RDH12 979 100% RDH12-Related Retinitis Pigmentosa RDH13 1184 93% . RDH14 1019 61% . RDH16 970 100% . RDH5 973 100% RDH5-Related Fundus Albipunctatus RDH8 960 100% . RDM1 1459 100% . RDX 1804 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive RDX 1804 100% DFNB24 Nonsyndromic Hearing Loss and Deafness UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 476

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) REC8 1717 100% . RECK 3000 97% . RECQL 2006 100% . RECQL4 3980 96% Rothmund-Thomson Syndrome RECQL4 3980 96% Baller-Gerold Syndrome RECQL4 3980 96% Rapadilino Syndrome RECQL4 3980 96% RECQL4-Related Disorders RECQL4 3980 96% Choriodal Dystrophy, Central Areolar 2 RECQL5 3227 97% . REEP1 864 92% Spastic Paraplegia 31 REEP2 791 100% . REEP3 800 97% . REEP4 806 99% . REEP5 590 100% . REEP6 575 78% . REG1A 521 100% . REG1B 521 100% . REG3A 548 100% . REG3G 548 100% . REG4 1079 100% . REL 1904 98% . RELA 3717 88% . RELB 1780 94% . RELL1 840 98% . RELL2 936 100% . RELN 10745 100% Lissencephaly 2 RELN 10745 100% Choriodal Dystrophy, Central Areolar 2 RELT 1333 96% . REM1 913 88% . REM2 1043 77% . REN 1261 98% Familial Juvenile Hyperuricemic Nephropathy Type 2 REN 1261 98% Renal Tubular Dysgenesis, REN-Related RENBP 1328 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 477

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) REP15 715 100% . REPIN1 3605 96% . REPS1 2548 100% . REPS2 2186 87% . RER1 615 100% . RERE 4993 85% . RERG 616 100% . RERGL 638 100% . RESP18 715 89% . REST 3306 100% . RET 3641 93% Multiple Endocrine Neoplasia Type 2 RET 3641 93% Hirschsprung Disease RET 3641 93% RET-Related Hirschsprung Disease RET 3641 93% RET-Related Pheochromocytoma RET 3641 93% RET-Related Renal Adysplasia RET 3641 93% Choriodal Dystrophy, Central Areolar 2 RETN 339 78% . RETNLB 348 100% . RETSAT 1877 100% . REV1 3957 100% . REV3L 9521 100% . REXO1 3730 75% . REXO1L1 4064 20% . REXO2 742 86% . REXO4 1301 100% . RFC1 3658 100% . RFC2 1109 95% . RFC3 1150 100% . RFC4 1132 100% . RFC5 1296 100% . RFESD 833 100% . RFFL 1116 100% . RFK 484 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 478

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RFNG 1028 70% . RFPL1 962 100% . RFPL2 1989 100% . RFPL3 1339 100% . RFPL4A 872 100% . RFPL4B 796 100% . RFT1 1678 96% Congenital Disorders of Glycosylation RFT1 1678 96% RFT1-CDG (CDG-In) RFTN1 1773 100% . RFTN2 1542 96% . RFWD2 2357 91% . RFWD3 2373 100% . RFX1 3020 80% . RFX2 2240 82% . RFX3 2784 100% . RFX4 2485 99% . RFX5 1887 100% Bare Lymphocyte Syndrome, Type II, Complementation Group E RFX6 2863 100% . RFX7 4419 97% . RFX8 1466 100% . RFXANK 903 100% MHC Class II Deficiency, Complementation Group B RFXAP 831 51% Bare Lymphocyte Syndrome, Type II, Complementation Group D RG9MTD1 1216 100% . RG9MTD2 1048 100% . RG9MTD3 983 100% . RGAG1 4175 100% . RGAG4 1714 100% . RGL1 2484 100% . RGL2 2585 96% . RGL3 2346 88% . RGL4 1466 99% . RGMA 1531 96% . RGMB 1453 82% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 479

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RGN 924 94% . RGNEF 5340 97% . RGP1 1208 100% . RGPD1 10678 28% . RGPD2 10726 29% . RGPD3 5369 88% . RGPD4 5369 86% . RGPD5 16404 19% . RGPD6 11014 0% . RGPD8 5390 59% . RGR 1054 100% Retinitis Pigmentosa, Autosomal Recessive RGR 1054 100% Retinitis Pigmentosa RGR 1054 100% RGR-Related Retinitis Pigmentosa RGS1 650 100% . RGS10 577 91% . RGS11 1472 71% . RGS12 5057 99% . RGS13 496 100% . RGS14 1761 96% . RGS16 629 92% . RGS17 649 100% . RGS18 728 100% . RGS19 674 92% . RGS2 656 100% . RGS20 1264 92% . RGS21 475 100% . RGS22 3903 99% . RGS3 4479 92% . RGS4 1567 92% . RGS5 908 100% . RGS6 1587 100% . RGS7 1532 100% . RGS7BP 798 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 480

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RGS8 651 100% . RGS9 2413 100% . RGS9BP 712 53% . RGSL1 3315 100% . RHAG 1270 100% . RHBDD1 972 100% . RHBDD2 1523 88% . RHBDD3 1181 64% . RHBDF1 2636 90% . RHBDF2 2852 91% . RHBDL1 1345 88% . RHBDL2 940 100% . RHBDL3 1251 91% . RHBG 1879 100% . RHCE 1372 98% . RHCG 1480 98% . RHD 1294 73% . RHEB 587 97% . RHEBL1 584 100% . RHO 1067 100% Retinitis Pigmentosa, Autosomal Dominant RHO 1067 100% Retinitis Pigmentosa, Autosomal Recessive RHO 1067 100% Retinitis Pigmentosa RHO 1067 100% RHO-Related Retinitis Pigmentosa RHO 1067 100% Congenital Stationary Night Blindness, Autosomal Dominant 1 RHO 1067 100% Choriodal Dystrophy, Central Areolar 2 RHOA 598 100% . RHOB 595 100% . RHOBTB1 2127 100% . RHOBTB2 2511 97% . RHOBTB3 1884 100% . RHOC 598 100% . RHOD 653 79% . RHOF 656 67% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 481

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RHOG 580 100% . RHOH 580 100% . RHOJ 665 100% . RHOQ 638 100% . RHOT1 2160 98% . RHOT2 1933 97% . RHOU 789 83% . RHOV 723 91% . RHOXF1 567 100% . RHOXF2 1766 45% . RHOXF2B 1766 45% . RHPN1 2073 93% . RHPN2 2121 97% . RIBC1 1583 100% . RIBC2 1161 78% . RIC3 1281 100% . RIC8A 1654 98% . RIC8B 1599 94% . RICTOR 5279 99% . RIF1 7559 100% . RIIAD1 295 0% . RILP 1238 62% . RILPL1 1240 95% . RILPL2 652 87% . RIMBP2 3227 96% . RIMBP3 4924 59% . RIMBP3B 9848 7% . RIMBP3C 9848 7% . RIMKLA 1196 86% . RIMKLB 1181 100% . RIMS1 5797 93% Cone-Rod Dystrophy 7 RIMS2 4342 100% . RIMS3 951 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 482

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RIMS4 977 92% . RIN1 2392 72% . RIN2 2793 100% Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis RIN3 2998 96% . RING1 1245 98% . RINL 1822 70% . RINT1 2439 99% . RIOK1 1860 96% . RIOK2 2284 100% . RIOK3 1612 100% . RIPK1 2056 100% . RIPK2 1667 98% . RIPK3 1597 100% . RIPK4 2387 100% . RIPPLY1 472 100% . RIPPLY2 403 76% . RIT1 680 100% . RIT2 674 100% . RLBP1 982 99% Retinitis Pigmentosa, Autosomal Recessive RLBP1 982 99% RLBP1-Related Fundus Albipunctatus RLBP1 982 99% Retinitis Pigmentosa RLBP1 982 99% Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type RLBP1 982 99% Newfoundland Rod-Cone Dystrophy RLBP1 982 99% Choriodal Dystrophy, Central Areolar 2 RLF 5777 100% . RLIM 1887 100% . RLN1 566 100% . RLN2 1022 90% . RLN3 437 100% . RLTPR 4460 90% . RMI1 1882 100% . RMI2 452 43% . RMND1 1394 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 483

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RMND5A 1212 96% . RMND5B 1218 99% . RNASE1 475 100% . RNASE10 655 100% . RNASE11 604 100% . RNASE12 448 100% . RNASE13 475 100% . RNASE2 490 100% . RNASE3 487 100% . RNASE4 448 100% . RNASE6 457 100% . RNASE7 475 100% . RNASE8 469 100% . RNASE9 1282 99% . RNASEH1 893 98% . RNASEH2A 932 89% Aicardi-Goutieres Syndrome RNASEH2A 932 89% RNASEH2A-Related Aicardi-Goutieres Syndrome RNASEH2B 1020 90% Aicardi-Goutieres Syndrome RNASEH2B 1020 90% RNASEH2B-Related Aicardi-Goutieres Syndrome RNASEH2C 511 84% Aicardi-Goutieres Syndrome RNASEH2C 511 84% RNASEH2C-Related Aicardi-Goutieres Syndrome RNASEK 309 100% . RNASEL 2250 100% Prostate Cancer RNASET2 807 89% Leukoencephalopathy, Cystic, without Megalencephaly RND1 719 100% . RND2 704 83% . RND3 755 100% . RNF10 2504 100% . RNF103 2362 98% . RNF103-CHMP3 788 100% . RNF11 477 100% . RNF111 3013 100% . RNF112 1952 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 484

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RNF113A 1036 100% . RNF113B 977 100% . RNF114 711 86% . RNF115 951 96% . RNF121 1020 92% . RNF122 492 96% . RNF123 4097 98% . RNF125 723 99% . RNF126 972 40% . RNF128 1725 93% . RNF13 1182 100% . RNF130 1296 91% . RNF133 1135 100% . RNF135 1922 77% . RNF138 1102 87% . RNF139 2003 100% . RNF14 1985 100% . RNF141 713 100% . RNF144A 907 100% . RNF144B 940 100% . RNF145 2425 98% . RNF146 2162 100% . RNF148 922 100% . RNF149 1231 100% . RNF150 1345 97% . RNF151 754 99% . RNF152 616 100% . RNF157 2116 99% . RNF165 1073 100% . RNF166 1131 58% . RNF167 1089 100% . RNF168 1740 100% RIDDLE Syndrome RNF169 2151 78% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 485

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RNF17 5119 100% . RNF170 1125 100% . RNF175 1023 93% . RNF180 1895 93% . RNF181 482 100% . RNF182 748 100% . RNF183 583 100% . RNF185 603 100% . RNF186 688 100% . RNF187 724 33% . RNF19A 2553 100% . RNF19B 2410 73% . RNF2 1035 100% . RNF20 3004 100% . RNF207 1973 67% . RNF208 790 81% . RNF212 1838 100% . RNF213 16355 84% . RNF214 2168 100% . RNF215 1170 72% . RNF216 3683 100% . RNF217 856 100% . RNF219 2205 100% . RNF220 1757 100% . RNF222 667 38% . RNF224 479 0% . RNF24 688 91% . RNF25 1420 100% . RNF26 1306 100% . RNF31 3303 98% . RNF32 1121 100% . RNF34 1156 100% . RNF38 1794 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 486

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RNF39 2449 68% . RNF4 755 100% . RNF40 3188 95% . RNF41 1250 100% . RNF43 2388 97% . RNF44 1339 60% . RNF5 567 100% . RNF6 2070 100% . RNF7 656 86% . RNF8 1699 94% . RNFT1 1344 99% . RNFT2 1442 97% . RNGTT 1858 100% . RNH1 1422 97% . RNLS 1133 100% . RNMT 1471 100% . RNMTL1 1279 100% . RNPC3 1610 26% . RNPEP 1997 78% . RNPEPL1 1521 90% . RNPS1 946 100% . ROBO1 5488 100% . ROBO2 4576 100% Vesicoureteral Reflux 2 ROBO3 4273 95% Familial Horizontal Gaze Palsy with Progressive Scoliosis ROBO4 3096 98% . ROCK1 4197 100% . ROCK2 4299 100% . ROGDI 908 68% . ROM1 1068 99% Retinitis Pigmentosa, Autosomal Dominant ROM1 1068 99% Retinitis Pigmentosa ROM1 1068 99% ROM1-Related Retinitis Pigmentosa ROM1 1068 99% Choriodal Dystrophy, Central Areolar 2 ROMO1 248 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 487

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ROPN1 659 100% . ROPN1B 659 100% . ROPN1L 713 100% . ROR1 3116 97% . ROR2 2868 96% Brachydactyly, Type B1 ROR2 2868 96% ROR2-Related Robinow Syndrome ROR2 2868 96% ROR2-Related Disorders RORA 2096 91% . RORB 1420 100% . RORC 1612 98% . ROS1 7216 100% . RP1 6483 100% Retinitis Pigmentosa, Autosomal Dominant RP1 6483 100% Retinitis Pigmentosa RP1 6483 100% RP1-Related Retinitis Pigmentosa RP1L1 7215 100% Occult Macular Dystrophy RP2 1073 90% Retinitis Pigmentosa RP2 1073 90% RP2-Related Retinitis Pigmentosa RP2 1073 90% Retinitis Pigmentosa, X-Linked RP9 690 78% Retinitis Pigmentosa, Autosomal Dominant RP9 690 78% Retinitis Pigmentosa RP9 690 78% RP9-Related Retinitis Pigmentosa RPA1 1919 95% . RPA2 849 100% . RPA3 382 100% . RPA4 790 100% . RPAIN 1244 100% . RPAP1 4278 100% . RPAP2 1891 96% . RPAP3 2194 100% . RPE 913 100% . RPE65 1658 100% Retinitis Pigmentosa, Autosomal Recessive RPE65 1658 100% Leber Congenital Amaurosis RPE65 1658 100% Retinitis Pigmentosa UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 488

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RPE65 1658 100% RPE65-Related Leber Congenital Amaurosis RPE65 1658 100% RPE65-Related Retinitis Pigmentosa RPF1 1086 100% . RPF2 961 100% . RPGR 5788 71% RPGR-Related Retinitis Pigmentosa RPGR 5788 71% Retinitis Pigmentosa RPGR 5788 71% Retinitis Pigmentosa, X-Linked RPGR 5788 71% Retinitis Pigmentosa, X-linked, and Sinorespiratory Infections, with or without Deafness RPGRIP1 3957 100% Leber Congenital Amaurosis RPGRIP1 3957 100% RPGRIP1-Related Leber Congenital Amaurosis RPGRIP1L 4052 96% Meckel Syndrome RPGRIP1L 4052 96% Joubert Syndrome and Related Disorders RPGRIP1L 4052 96% RPGRIP1L-Related Joubert Syndrome RPGRIP1L 4052 96% RPGRIP1L-Related Meckel Syndrome RPGRIP1L 4052 96% Nephronophthisis 8 RPH3A 2165 99% . RPH3AL 980 84% . RPIA 972 96% Ribose 5-Phosphate Isomerase Deficiency RPL10 669 100% Autism Spectrum Disorders RPL10A 678 100% . RPL10L 649 100% . RPL11 716 100% Diamond-Blackfan Anemia RPL11 716 100% RPL11-Related Diamond-Blackfan Anemia RPL12 526 89% . RPL13 1336 97% . RPL13A 644 99% . RPL14 679 100% . RPL15 937 100% . RPL17 718 100% . RPL17-C18ORF32 858 100% . RPL18 595 99% . RPL18A 551 96% . RPL19 615 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 489

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RPL21 503 100% . RPL22 403 97% . RPL22L1 385 100% . RPL23 443 100% . RPL23A 491 94% . RPL24 498 100% . RPL26 450 100% . RPL26L1 450 100% . RPL27 427 100% . RPL27A 467 100% . RPL28 1334 81% . RPL29 492 100% . RPL3 1583 100% . RPL30 364 100% . RPL31 596 100% . RPL32 420 100% . RPL34 370 100% . RPL35 388 100% . RPL35A 349 100% Diamond-Blackfan Anemia RPL35A 349 100% RPL35A-Related Diamond-Blackfan Anemia RPL36 330 83% . RPL36A 413 100% . RPL36A-HNRNPH2 1670 100% . RPL36AL 325 100% . RPL37 310 100% . RPL37A 295 100% . RPL38 229 100% . RPL39 168 98% . RPL39L 160 100% . RPL3L 1264 92% . RPL4 1324 100% . RPL41 90 100% . RPL5 926 100% Diamond-Blackfan Anemia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 490

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RPL5 926 100% RPL5-Related Diamond-Blackfan Anemia RPL6 891 100% . RPL7 771 100% . RPL7A 833 100% . RPL7L1 765 100% . RPL8 794 100% . RPL9 603 100% . RPLP0 982 100% . RPLP1 361 85% . RPLP2 364 100% . RPN1 1864 86% . RPN2 2261 89% . RPP14 395 100% . RPP21 866 98% . RPP25 604 58% . RPP30 1146 91% . RPP38 856 100% . RPP40 1124 100% . RPRD1A 967 99% . RPRD1B 1009 100% . RPRD2 4430 100% . RPRM 334 100% . RPRML 367 79% . RPS10 518 100% Diamond-Blackfan Anemia RPS10 518 100% RPS10-Related Diamond-Blackfan Anemia RPS10-NUDT3 908 100% . RPS11 497 100% . RPS12 419 100% . RPS13 480 100% . RPS14 472 100% . RPS15 454 82% . RPS15A 409 100% . RPS16 461 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 491

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RPS17 856 0% Diamond-Blackfan Anemia RPS17 856 0% RPS17-Related Diamond-Blackfan Anemia RPS17L 856 0% . RPS18 483 99% . RPS19 458 100% RPS19-Related Diamond-Blackfan Anemia RPS19 458 100% Diamond-Blackfan Anemia RPS19BP1 427 88% . RPS2 906 100% . RPS20 663 84% . RPS21 272 100% . RPS23 448 100% . RPS24 952 49% RPS24-Related Diamond-Blackfan Anemia RPS24 952 49% Diamond-Blackfan Anemia RPS25 394 100% . RPS26 364 100% Diamond-Blackfan Anemia RPS26 364 100% RPS26-Related Diamond-Blackfan Anemia RPS27 271 100% . RPS27A 491 99% . RPS27L 271 100% . RPS28 222 76% . RPS29 229 100% . RPS3 756 100% . RPS3A 819 100% . RPS4X 820 100% . RPS4Y1 820 100% . RPS4Y2 820 100% . RPS5 635 100% . RPS6 774 100% . RPS6KA1 2435 95% . RPS6KA2 2417 96% . RPS6KA3 2311 97% Coffin-Lowry Syndrome RPS6KA3 2311 97% X-Linked Mental Retardation 19 RPS6KA3 2311 97% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 492

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RPS6KA4 2525 76% . RPS6KA5 2664 100% . RPS6KA6 2326 100% . RPS6KB1 1638 97% . RPS6KB2 1509 99% . RPS6KC1 3261 100% . RPS6KL1 1589 91% . RPS7 609 100% Diamond-Blackfan Anemia RPS7 609 100% RPS7-Related Diamond-Blackfan Anemia RPS8 651 100% . RPS9 601 100% . RPSA 912 100% . RPTN 2363 100% . RPTOR 4144 95% . RPUSD1 959 91% . RPUSD2 1650 97% . RPUSD3 1092 96% . RPUSD4 1409 100% . RQCD1 932 100% . RRAD 943 79% . RRAGA 946 100% . RRAGB 1169 99% . RRAGC 1228 81% . RRAGD 1231 90% . RRAS 681 92% . RRAS2 753 94% . RRBP1 3030 99% . RREB1 5269 90% . RRH 1042 100% . RRM1 2455 99% . RRM2 1673 75% . RRM2B 1680 89% RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy RRM2B 1680 89% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 493

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RRM2B 1680 89% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 5 RRN3 2028 100% . RRNAD1 1586 99% . RRP1 1438 74% . RRP12 4030 96% . RRP15 869 100% . RRP1B 2341 91% . RRP36 808 86% . RRP7A 871 90% . RRP8 1399 98% . RRP9 1488 99% . RRS1 1102 87% . RS1 699 100% X-Linked Juvenile Retinoschisis RS1 699 100% Choriodal Dystrophy, Central Areolar 2 RSAD1 1365 90% . RSAD2 1110 100% . RSBN1 2437 100% . RSBN1L 2573 97% . RSC1A1 1858 100% . RSF1 4390 96% . RSG1 797 88% . RSL1D1 1509 100% . RSL24D1 516 100% . RSPH1 966 100% . RSPH10B 5378 56% . RSPH10B2 5378 56% . RSPH3 1715 100% . RSPH4A 2414 100% Primary Ciliary Dyskinesia RSPH4A 2414 100% Primary Ciliary Dyskinesia11: RSPH4A-Related Primary Ciliary Dyskinesia RSPH6A 2178 100% . RSPH9 1327 100% Primary Ciliary Dyskinesia RSPH9 1327 100% Primary Ciliary Dyskinesia12: RSPH9-Related Primary Ciliary Dyskinesia RSPO1 812 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 494

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RSPO2 752 100% . RSPO3 839 100% . RSPO4 725 75% Anonychia Congenita RSPRY1 1787 100% . RSRC1 1041 100% . RSRC2 1345 100% . RSU1 921 100% . RTBDN 1005 87% . RTCD1 1188 100% . RTDR1 1071 90% . RTEL1 4125 96% . RTF1 2205 90% . RTKN 2020 99% . RTKN2 1878 97% . RTL1 4081 67% . RTN1 2432 82% . RTN2 1905 95% Spastic Paraplegia 12 RTN3 3333 100% . RTN4 6057 96% . RTN4IP1 1227 100% . RTN4R 1430 93% . RTN4RL1 1334 99% . RTN4RL2 1275 90% . RTP1 800 100% . RTP2 686 100% . RTP3 707 100% . RTP4 749 100% . RTTN 6877 100% . RUFY1 2377 89% . RUFY2 2119 100% . RUFY3 2484 85% . RUFY4 1760 98% . RUNDC1 1862 76% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 495

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RUNDC3A 1562 78% . RUNDC3B 1470 98% . RUNX1 1798 75% Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia RUNX1T1 2317 87% . RUNX2 1999 96% Cleidocranial Dysplasia RUNX2 1999 96% Choriodal Dystrophy, Central Areolar 2 RUNX3 1616 82% . RUSC1 3536 95% . RUSC1-AS1 715 99% . RUSC2 4595 100% . RUVBL1 1415 100% . RUVBL2 1452 97% . RWDD1 908 100% . RWDD2A 887 100% . RWDD2B 980 99% . RWDD3 1969 97% . RWDD4 595 99% . RXFP1 2642 100% . RXFP2 2337 100% . RXFP3 1414 98% . RXFP4 1129 100% . RXRA 1429 98% . RXRB 1642 82% . RXRG 1432 100% . RYBP 673 100% . RYK 2030 88% . RYR1 15541 91% Multiminicore Disease RYR1 15541 91% Malignant Hyperthermia Susceptibility RYR1 15541 91% Central Core Disease RYR1 15541 91% RYR1-Related Malignant Hyperthermia Susceptibility RYR1 15541 91% RYR1-Related Multiminicore Disease RYR1 15541 91% Congenital Neuromuscular Disease with Uniform Type 1 Fiber RYR1 15541 91% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 496

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) RYR2 15324 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy RYR2 15324 100% Catecholaminergic Polymorphic Ventricular Tachycardia RYR2 15324 100% RYR2-Related Catecholaminergic Polymorphic Ventricular Tachycardia RYR2 15324 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2 RYR2 15324 100% Catecholaminergic Polymorphic Ventricular Tachycardia 1, With or Without Atrial Dysfunction and Dilated Cardiomyopathy RYR2 15324 100% Choriodal Dystrophy, Central Areolar 2 RYR3 15029 100% . S100A1 293 100% . S100A10 302 100% . S100A11 330 100% . S100A12 287 100% . S100A13 305 100% . S100A14 327 100% . S100A16 320 100% . S100A2 302 100% . S100A3 314 100% . S100A4 314 100% . S100A5 287 100% . S100A6 281 100% . S100A7 314 100% . S100A7A 314 100% . S100A7L2 351 94% . S100A8 290 100% . S100A9 353 100% . S100B 287 100% . S100G 248 100% . S100P 296 100% . S100PBP 1247 100% . S100Z 308 100% . S1PR1 1153 100% . S1PR2 1066 100% . S1PR3 1141 100% . S1PR4 1159 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 497

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) S1PR5 1201 96% . SAA1 381 100% . SAA2 407 94% . SAA2-SAA4 643 100% . SAA4 405 100% . SAAL1 1473 100% . SAC3D1 1085 47% . SACM1L 1844 98% . SACS 13776 99% ARSACS SACS 13776 99% Choriodal Dystrophy, Central Areolar 2 SAE1 1396 93% . SAFB 3229 79% . SAFB2 2946 79% . SAG 1278 100% Retinitis Pigmentosa, Autosomal Recessive SAG 1278 100% Retinitis Pigmentosa SAG 1278 100% Oguchi Disease 1 SAG 1278 100% SAG-Related Retinitis Pigmentosa SAG 1278 100% Choriodal Dystrophy, Central Areolar 2 SAGE1 2791 100% . SALL1 7453 100% Townes-Brocks Syndrome SALL2 3032 100% . SALL3 3915 84% . SALL4 3178 100% Duane-Radial Ray Syndrome SALL4 3178 100% Acro-Renal-Ocular Syndrome SALL4 3178 100% SALL4-Related Disorders SALL4 3178 100% Choriodal Dystrophy, Central Areolar 2 SAMD1 1319 51% . SAMD10 629 85% . SAMD11 2098 64% . SAMD12 937 100% . SAMD13 456 100% . SAMD14 1378 85% . SAMD15 2037 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 498

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SAMD3 1619 99% . SAMD4A 2652 94% . SAMD4B 2133 100% . SAMD5 530 96% . SAMD7 1369 100% . SAMD8 1499 100% . SAMD9 4774 100% . SAMD9L 4759 100% . SAMHD1 1945 100% Aicardi-Goutieres Syndrome SAMHD1 1945 100% SAMHD1-Related Aicardi-Goutieres Syndrome SAMM50 1470 99% . SAMSN1 1154 100% . SAP130 3336 99% . SAP18 535 100% . SAP25 616 48% . SAP30 679 97% . SAP30BP 971 100% . SAP30L 671 99% . SAPCD1 557 92% . SAR1A 621 100% . SAR1B 621 100% . SARDH 2837 90% Sarcosinemia SARM1 2681 62% . SARNP 677 100% . SARS 1589 100% . SARS2 1847 93% Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis SART1 2483 85% . SART3 2968 100% . SASH1 3824 99% . SASH3 1175 97% . SASS6 2042 100% . SAT1 540 100% . SAT2 537 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 499

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SATB1 2432 97% . SATB2 2242 93% . SATL1 1919 99% . SAV1 1172 100% . SAYSD1 560 100% . SBDS 773 100% Shwachman-Diamond Syndrome SBDS 773 100% Choriodal Dystrophy, Central Areolar 2 SBF1 5846 92% . SBF2 5710 99% Charcot-Marie-Tooth Neuropathy Type 4 SBF2 5710 99% Charcot-Marie-Tooth Neuropathy Type 4B2 SBK1 1287 75% . SBK2 1059 61% . SBNO1 4623 100% . SBNO2 4337 67% . SBSN 5073 83% . SC5DL 916 100% Lathosterolosis SCAF1 3979 70% . SCAF11 4448 100% . SCAF4 3720 100% . SCAF8 3896 100% . SCAI 1966 97% . SCAMP1 1052 100% . SCAMP2 1026 93% . SCAMP3 1080 99% . SCAMP4 714 100% . SCAMP5 732 100% . SCAND1 1088 52% . SCAND3 3994 100% . SCAP 3928 94% . SCAPER 4365 99% . SCARA3 1881 89% . SCARA5 1520 85% . SCARB1 1702 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 500

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SCARB2 1485 100% . SCARF1 3775 84% . SCARF2 2792 62% . SCCPDH 1338 87% . SCD 1104 100% . SCD5 1219 100% . SCEL 2195 100% . SCFD1 2122 97% . SCFD2 2091 100% . SCG2 1858 100% . SCG3 1637 100% . SCG5 776 100% . SCGB1A1 288 100% . SCGB1C1 300 100% . SCGB1D1 285 100% . SCGB1D2 285 100% . SCGB1D4 264 100% . SCGB2A1 300 100% . SCGB2A2 294 100% . SCGB2B2 303 85% . SCGB3A1 327 71% . SCGB3A2 294 100% . SCGN 875 100% . SCHIP1 2230 68% . SCIMP 458 100% . SCIN 2309 96% . SCLT1 2151 100% . SCLY 1386 93% . SCMH1 2402 100% . SCML1 1513 100% . SCML2 2159 100% . SCML4 1273 100% . SCN10A 5979 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 501

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SCN11A 5480 100% . SCN1A 6904 100% Familial Hemiplegic Migraine SCN1A 6904 100% SCN1A-Related Seizure Disorders SCN1A 6904 100% Familial Hemiplegic Migraine 3 SCN1B 1640 79% Brugada Syndrome SCN1B 1640 79% SCN1B-Related Generalized Epilepsy with Febrile Seizures Plus SCN1B 1640 79% Brugada Syndrome 5 SCN1B 1640 79% SCN1B-Related Cardiac Conduction Defect, Nonspecific SCN1B 1640 79% Choriodal Dystrophy, Central Areolar 2 SCN2A 6218 100% Benign Familial Neonatal Infantile Seizures SCN2A 6218 100% SCN2A-Related Generalized Epilepsy with Febrile Seizures Plus SCN2A 6218 100% Epileptic Encephalopathy, Early Infantile, 11 SCN2B 664 100% . SCN3A 6555 100% . SCN3B 668 100% Brugada Syndrome SCN3B 668 100% Brugada Syndrome 7 SCN4A 5607 100% Hyperkalemic Periodic Paralysis Type 1 SCN4A 5607 100% Hypokalemic Periodic Paralysis SCN4A 5607 100% Paramyotonia Congenita of Von Eulenburg SCN4A 5607 100% Hypokalemic Periodic Paralysis Type 2 SCN4A 5607 100% Congenital Myasthenic Syndromes SCN4A 5607 100% SCN4A-Related Congenital Myasthenic Syndrome SCN4A 5607 100% Myotonia, Potassium-Aggravated SCN4A 5607 100% Normokalemic Periodic Paralysis, Potassium-Sensitive SCN4A 5607 100% Choriodal Dystrophy, Central Areolar 2 SCN4B 940 100% Romano-Ward Syndrome SCN4B 940 100% Long QT Syndrome 10 SCN5A 6696 100% Romano-Ward Syndrome SCN5A 6696 100% Dilated Cardiomyopathy SCN5A 6696 100% Brugada Syndrome SCN5A 6696 100% Long QT Syndrome 3 SCN5A 6696 100% Progressive Familial Heart Block, Type IA SCN5A 6696 100% SCN5A-Related Disorders UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 502

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SCN5A 6696 100% SCN5A-Related Romano Ward Syndrome SCN5A 6696 100% SCN5A-Associated Dilated Cardiomyopathy SCN5A 6696 100% SCN5A-Related Dilated Cardiomyopathy SCN5A 6696 100% Progressive Familial Heart Block, Type IA (319080) SCN5A 6696 100% Sick Sinus Syndrome 1, Autosomal Recessive SCN5A 6696 100% Paroxysmal Familial Ventricular Fibrillation 1 SCN5A 6696 100% Brugada Syndrome 1 SCN5A 6696 100% SCN5A-Related Brugada Syndrome SCN7A 5145 100% . SCN8A 6047 100% . SCN9A 6038 100% SCN9A-Related Inherited Erythromelalgia SCN9A 6038 100% Congenital Indifference to Pain, Autosomal Recessive SCN9A 6038 100% Paroxysmal Extreme Pain Disorder SCN9A 6038 100% SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus SCN9A 6038 100% SCN9A-Related Dravet Syndrome SCN9A 6038 100% Small Fiber Neuropathy SCN9A 6038 100% Familial Febrile Seizures 3B SCNM1 796 100% . SCNN1A 3448 99% Pseudohypoaldosteronism Type 1, Recessive SCNN1A 3448 99% Choriodal Dystrophy, Central Areolar 2 SCNN1B 1971 100% Pseudohypoaldosteronism Type 1, Recessive SCNN1B 1971 100% Liddle Syndrome, SCNN1B-Related SCNN1B 1971 100% Non-Classic Cystic Fibrosis-Like Syndrome SCNN1B 1971 100% Choriodal Dystrophy, Central Areolar 2 SCNN1D 2175 79% . SCNN1G 1998 100% Pseudohypoaldosteronism Type 1, Recessive SCNN1G 1998 100% Liddle Syndrome, SCNN1G-Related SCNN1G 1998 100% Choriodal Dystrophy, Central Areolar 2 SCO1 930 95% Leigh Syndrome (nuclear DNA mutation) SCO1 930 95% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) SCO2 805 100% Fatal Infantile Cardioencephalomyopathy due to Cytochrome c Oxidase Deficiency SCO2 805 100% Leigh Syndrome (nuclear DNA mutation) SCO2 805 100% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 503

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SCO2 805 100% Choriodal Dystrophy, Central Areolar 2 SCOC 658 72% . SCP2 2217 97% . SCPEP1 1411 97% . SCRG1 305 100% . SCRIB 5116 79% . SCRN1 1687 100% . SCRN2 1527 100% . SCRN3 1531 100% . SCRT1 1055 57% . SCRT2 932 61% . SCT 382 28% . SCTR 1375 94% . SCUBE1 3055 90% . SCUBE2 3179 93% . SCUBE3 3070 97% . SCXA 1228 2% . SCXB 1228 2% . SCYL1 2646 89% . SCYL2 2858 100% . SCYL3 2281 100% . SDAD1 2152 100% . SDC1 953 93% . SDC2 626 90% . SDC3 1349 89% . SDC4 617 93% . SDCBP 1150 100% . SDCBP2 1074 85% . SDCCAG3 1348 93% . SDCCAG8 2228 100% Bardet-Biedl Syndrome SDCCAG8 2228 100% Senior-Loken Syndrome SDCCAG8 2228 100% Senior-Loken Syndrome 7 SDCCAG8 2228 100% SDCCAG8-Related Bardet-Biedl Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 504

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SDF2 648 100% . SDF2L1 678 48% . SDF4 1526 100% . SDHA 2055 97% Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHA 2055 97% Leigh Syndrome (nuclear DNA mutation) SDHA 2055 97% Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related SDHA 2055 97% Mitochondrial Respiratory Chain Complex II Deficiency SDHA 2055 97% SDHA-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHA 2055 97% Choriodal Dystrophy, Central Areolar 2 SDHAF1 352 37% Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related SDHAF1 352 37% Mitochondrial Respiratory Chain Complex II Deficiency SDHAF2 517 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHAF2 517 100% SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHB 875 99% Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHB 875 99% SDHB-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHB 875 99% SDHB-Related Paraganglioma and Gastric Stromal Sarcoma SDHC 857 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHC 857 100% SDHC-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHC 857 100% SDHC-Related Paraganglioma and Gastric Stromal Sarcoma SDHD 496 100% Hereditary Paraganglioma-Pheochromocytoma Syndromes SDHD 496 100% SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome SDHD 496 100% SDHD-Related Paraganglioma and Gastric Stromal Sarcoma SDK1 7293 95% . SDK2 6699 95% . SDPR 1286 100% . SDR16C5 954 100% . SDR39U1 906 100% . SDR42E1 1190 100% . SDR9C7 958 100% . SDS 1015 95% . SDSL 1018 98% . SEBOX 663 100% . SEC11A 564 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 505

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SEC11C 603 99% . SEC13 1054 100% . SEC14L1 2492 100% . SEC14L2 1630 96% . SEC14L3 1251 100% . SEC14L4 1275 97% . SEC14L5 2151 94% . SEC14L6 1242 94% . SEC16A 7194 96% . SEC16B 3283 98% . SEC22A 948 100% . SEC22B 668 99% . SEC22C 982 100% . SEC23A 2374 100% . SEC23B 2621 100% Congenital Dyserythropoietic Anemia Type II SEC23IP 3075 100% . SEC24A 3374 100% . SEC24B 3903 96% . SEC24C 3373 100% . SEC24D 3187 100% . SEC31A 4181 98% . SEC31B 3640 100% . SEC61A1 1479 100% . SEC61A2 1553 99% . SEC61B 307 89% . SEC61G 219 100% . SEC62 1232 97% . SEC63 2367 100% Polycystic Liver Disease SECISBP2 2633 98% . SECISBP2L 3378 99% . SECTM1 763 99% . SEH1L 1319 100% . SEL1L 2533 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 506

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SEL1L2 2147 100% . SEL1L3 3495 95% . SELE 1881 100% . SELENBP1 1467 98% . SELK 305 100% . SELL 1194 100% . SELM 458 72% . SELO 2046 72% . SELP 2557 100% . SELPLG 2434 99% . SELRC1 708 100% . SELS 594 94% . SELT 608 100% . SELV 1061 58% . SEMA3A 2384 100% . SEMA3B 2466 83% . SEMA3C 2324 100% . SEMA3D 2402 100% . SEMA3E 2561 100% . SEMA3F 2430 97% . SEMA3G 2413 94% . SEMA4A 2507 99% Retinitis Pigmentosa, Autosomal Dominant SEMA4A 2507 99% Retinitis Pigmentosa SEMA4A 2507 99% SEMA4A-Related Retinitis Pigmentosa SEMA4A 2507 99% Cone-Rod Dystrophy 10 SEMA4B 2570 95% . SEMA4C 2558 99% . SEMA4D 3215 94% . SEMA4F 2369 98% . SEMA4G 2689 96% . SEMA5A 3309 100% . SEMA5B 4055 89% . SEMA6A 3165 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 507

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SEMA6B 2731 65% . SEMA6C 2961 78% . SEMA6D 5089 100% . SEMA7A 2146 92% . SEMG1 1397 100% . SEMG2 1757 100% . SENP1 2000 100% . SENP2 1838 100% . SENP3 1849 99% . SENP5 2304 100% . SENP6 3435 98% . SENP7 3249 100% . SENP8 643 100% . SEPHS1 1319 100% . SEPHS2 1351 85% . SEPN1 1825 80% Multiminicore Disease SEPN1 1825 80% SEPN1-Related Myopathy SEPN1 1825 80% Congenital Muscular Dystrophy SEPN1 1825 80% Congenital Fiber-Type Disproportion SEPN1 1825 80% SEPN1-Related Congenital Fiber-Type Disproportion SEPN1 1825 80% SEPN1-Related Multiminicore Disease SEPN1 1825 80% SEPN1-Related myopathy (319480) SEPN1 1825 80% Choriodal Dystrophy, Central Areolar 2 SEPP1 1476 95% . SEPSECS 1550 94% . SEPW1 284 95% . SEPX1 367 84% . SERAC1 2029 100% . SERBP1 1480 100% . SERF1A 844 16% . SERF1B 844 16% . SERF2 441 100% . SERGEF 1421 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 508

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SERHL2 993 70% . SERINC1 1402 100% . SERINC2 1703 92% . SERINC3 1462 99% . SERINC4 857 100% . SERINC5 1510 83% . SERP1 213 100% . SERP2 210 100% . SERPINA1 1273 100% Alpha1-Antitrypsin Deficiency SERPINA1 1273 100% Choriodal Dystrophy, Central Areolar 2 SERPINA10 1351 100% . SERPINA11 1285 100% . SERPINA12 1261 100% . SERPINA3 1288 100% . SERPINA4 1300 100% . SERPINA5 1237 100% . SERPINA6 1234 100% . SERPINA7 1264 100% . SERPINA9 2626 100% . SERPINB1 1164 100% . SERPINB10 1222 100% . SERPINB11 1207 100% . SERPINB12 1246 100% . SERPINB13 1204 100% . SERPINB2 1276 100% . SERPINB3 1201 100% . SERPINB4 1201 100% . SERPINB5 1152 100% . SERPINB6 1155 100% . SERPINB7 1171 100% . SERPINB8 1162 100% . SERPINB9 1155 100% . SERPINC1 1423 100% Antithrombin-III Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 509

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SERPIND1 1516 100% . SERPINE1 1791 100% Plasminogen Activator Inhibitor-1 Deficiency SERPINE1 1791 100% Choriodal Dystrophy, Central Areolar 2 SERPINE2 1648 99% . SERPINE3 1303 100% . SERPINF1 1285 93% SERPINF1-Related Osteogenesis Imperfecta SERPINF1 1285 93% Osteogenesis Imperfecta Type XII SERPINF2 1599 100% . SERPING1 1531 96% Hereditary Angioedema SERPING1 1531 96% Choriodal Dystrophy, Central Areolar 2 SERPINH1 1273 100% SERPINH1-Related Osteogenesis Imperfecta SERPINH1 1273 100% Osteogenesis Imperfecta Type X SERPINI1 1265 100% Familial Encephalopathy with Neuroserpin Inclusion Bodies SERPINI1 1265 100% Choriodal Dystrophy, Central Areolar 2 SERPINI2 1250 100% . SERTAD1 715 93% . SERTAD2 949 100% . SERTAD3 595 100% . SERTAD4 1083 100% . SERTM1 328 100% . SESN1 1901 100% . SESN2 1483 91% . SESN3 1519 100% . SESTD1 2159 100% . SET 982 93% . SETBP1 5004 96% Schinzel-Giedion Midface Retraction Syndrome SETD1A 5196 94% . SETD1B 5840 34% . SETD2 7779 99% . SETD3 1879 100% . SETD4 1588 100% . SETD5 4413 100% . SETD6 2076 55% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 510

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SETD7 1133 100% . SETD8 1091 88% . SETDB1 4277 100% . SETDB2 2216 100% . SETMAR 3803 78% . SETX 8130 100% Ataxia with Oculomotor Apraxia 2 SETX 8130 100% Amyotrophic Lateral Sclerosis SETX 8130 100% SETX-Related Amyotrophic Lateral Sclerosis SEZ6 3116 98% . SEZ6L 3381 97% . SEZ6L2 3148 95% . SF1 3786 73% . SF3A1 2920 92% . SF3A2 1427 66% . SF3A3 1574 98% . SF3B1 4039 100% . SF3B14 394 100% . SF3B2 2776 100% . SF3B3 3754 100% . SF3B4 1299 95% . SF3B5 265 100% . SFI1 3857 96% . SFMBT1 2681 100% . SFMBT2 2765 98% . SFN 751 100% . SFPQ 2164 70% . SFR1 880 98% . SFRP1 957 98% . SFRP2 900 100% . SFRP4 1065 100% . SFRP5 966 97% . SFSWAP 2928 98% . SFT2D1 512 89% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 511

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SFT2D2 515 87% . SFT2D3 652 2% . SFTA2 249 100% . SFTA3 301 100% . SFTPA1 1533 100% . SFTPA2 763 100% . SFTPB 1222 87% Pulmonary Surfactant Metabolism Dysfunction SFTPB 1222 87% SFTPB-Related Pulmonary Surfactant Metabolism Dysfunction SFTPB 1222 87% Choriodal Dystrophy, Central Areolar 2 SFTPC 777 100% Familial Pulmonary Fibrosis SFTPC 777 100% Surfactant Protein C Deficiency SFTPC 777 100% Pulmonary Surfactant Metabolism Dysfunction SFTPC 777 100% SFTPC-Related Pulmonary Surfactant Metabolism Dysfunction SFTPC 777 100% SFTPC-Related Familial Pulmonary Fibrosis SFTPD 1156 100% . SFXN1 1009 100% . SFXN2 1013 100% . SFXN3 1022 99% . SFXN4 1070 100% . SFXN5 1079 94% . SGCA 1200 88% Limb-Girdle Muscular Dystrophies, Autosomal Recessive SGCA 1200 88% Alpha-Sarcoglycanopathy SGCB 981 96% Limb-Girdle Muscular Dystrophies, Autosomal Recessive SGCB 981 96% Beta-Sarcoglycanopathy SGCD 1177 100% Dilated Cardiomyopathy SGCD 1177 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive SGCD 1177 100% Delta-Sarcoglycanopathy SGCD 1177 100% SGCD-Related Dilated Cardiomyopathy SGCD 1177 100% Choriodal Dystrophy, Central Areolar 2 SGCE 1565 95% Myoclonus-Dystonia SGCE 1565 95% Choriodal Dystrophy, Central Areolar 2 SGCG 904 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive SGCG 904 100% Gamma-Sarcoglycanopathy UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 512

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SGCZ 971 99% . SGIP1 2587 100% . SGK1 2003 97% . SGK196 1061 100% . SGK2 1552 94% . SGK223 4229 99% . SGK3 1555 100% . SGK494 1281 73% . SGMS1 1262 100% . SGMS2 1118 100% . SGOL1 2665 100% . SGOL2 4013 100% . SGPL1 1763 100% . SGPP1 1338 86% . SGPP2 1220 82% . SGSH 1541 82% Mucopolysaccharidosis Type IIIA SGSH 1541 82% Choriodal Dystrophy, Central Areolar 2 SGSM1 3551 98% . SGSM2 3252 98% . SGSM3 2334 99% . SGTA 982 86% . SGTB 955 100% . SH2B1 3445 91% . SH2B2 1796 59% . SH2B3 1756 73% . SH2D1A 552 100% SH2D1A-Related Lymphoproliferative Disease, X-Linked SH2D1A 552 100% Lymphoproliferative Disease, X-Linked SH2D1A 552 100% Choriodal Dystrophy, Central Areolar 2 SH2D1B 415 100% . SH2D2A 1580 89% . SH2D3A 1767 82% . SH2D3C 3308 90% . SH2D4A 1451 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 513

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SH2D4B 1278 81% . SH2D5 1459 92% . SH2D6 544 86% . SH2D7 1380 100% . SH3BGR 934 100% . SH3BGRL 361 100% . SH3BGRL2 340 93% . SH3BGRL3 294 87% . SH3BP1 2178 77% . SH3BP2 2137 85% Cherubism SH3BP2 2137 85% Choriodal Dystrophy, Central Areolar 2 SH3BP4 2908 96% . SH3BP5 1573 92% . SH3BP5L 1206 95% . SH3D19 2433 100% . SH3D21 2458 89% . SH3GL1 1433 100% . SH3GL2 1095 99% . SH3GL3 1080 99% . SH3GLB1 1267 99% . SH3GLB2 1232 80% . SH3KBP1 2141 100% . SH3PXD2A 3374 96% . SH3PXD2B 2788 100% Frank-ter Haar Syndrome SH3RF1 2711 100% . SH3RF2 2226 100% . SH3RF3 2689 69% . SH3TC1 4079 91% . SH3TC2 3935 100% Charcot-Marie-Tooth Neuropathy Type 4 SH3TC2 3935 100% Charcot-Marie-Tooth Neuropathy Type 4C SH3YL1 1069 100% . SHANK1 6578 59% . SHANK2 5712 90% Autism Spectrum Disorders UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 514

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SHANK3 5336 57% Phelan-McDermid Syndrome SHANK3 5336 57% Autism Spectrum Disorders SHARPIN 1196 83% . SHB 1554 70% . SHBG 1558 100% . SHC1 2940 100% . SHC2 1797 68% . SHC3 1833 87% . SHC4 1941 100% . SHCBP1 2071 100% . SHCBP1L 2002 95% . SHD 1047 99% . SHE 1512 84% . SHF 1300 95% . SHFM1 225 100% . SHH 1401 74% SHH-Related Holoprosencephaly SHH 1401 74% Holoprosencephaly SHISA2 896 67% . SHISA3 725 89% . SHISA4 614 87% . SHISA5 747 87% . SHISA6 1680 91% . SHISA7 1633 17% . SHISA9 1402 84% . SHKBP1 2196 95% . SHMT1 1496 100% . SHMT2 1892 100% . SHOC2 1781 100% Noonan-Like Syndrome with Loose Anagen Hair SHOX 1896 34% Leri-Weill Dyschondrosteosis SHOX 1896 34% SHOX-Related Short Stature SHOX 1896 34% Langer Mesomelic Dwarfism SHOX 1896 34% SHOX-Related Haploinsufficiency Disorders SHOX 1896 34% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 515

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SHOX2 1390 88% . SHPK 1465 99% . SHPRH 5543 100% . SHQ1 1778 96% . SHROOM1 2924 81% . SHROOM2 4891 86% . SHROOM3 6035 93% . SHROOM4 4518 98% Stocco dos Santos X-Linked Mental Retardation Syndrome SI 5672 100% Congenital Sucrase-Isomaltase Deficiency SIAE 1778 100% . SIAH1 1805 100% . SIAH2 983 94% . SIAH3 818 100% . SIDT1 2584 98% . SIDT2 2603 100% . SIGIRR 1269 84% . SIGLEC1 5214 96% . SIGLEC10 3294 100% . SIGLEC11 2141 95% . SIGLEC12 2351 100% . SIGLEC14 1219 76% . SIGLEC15 1011 57% . SIGLEC5 1692 87% . SIGLEC6 2515 100% . SIGLEC7 1432 100% . SIGLEC8 1528 100% . SIGLEC9 1661 85% . SIGMAR1 688 85% . SIK1 2404 83% . SIK2 2841 95% . SIK3 3884 99% . SIKE1 831 100% . SIL1 1422 96% Marinesco-Sjogren Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 516

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SIM1 2345 100% Prader-Willi-Like Syndrome Associated with Chromosome 6 SIM2 2735 80% . SIN3A 3902 100% . SIN3B 3569 93% . SIPA1 3189 71% . SIPA1L1 5499 100% . SIPA1L2 5253 100% . SIPA1L3 5426 95% . SIRPA 1547 94% . SIRPB1 2354 77% . SIRPB2 1419 99% . SIRPD 610 100% . SIRPG 1184 94% . SIRT1 2437 83% . SIRT2 1439 93% . SIRT3 1424 90% . SIRT4 957 100% . SIRT5 1242 99% . SIRT6 1100 56% . SIRT7 1243 82% . SIT1 611 86% . SIVA1 544 83% . SIX1 863 100% Branchiootorenal Spectrum Disorders SIX1 863 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant SIX1 863 100% DFNA23 Nonsyndromic Hearing Loss and Deafness SIX1 863 100% SIX1-Related Branchiootorenal Spectrum Disorders SIX2 884 100% . SIX3 1007 96% Anophthalmia/Microphthalmia SIX3 1007 96% Holoprosencephaly SIX3 1007 96% SIX3-Related Holoprosencephaly SIX3 1007 96% Familial Schizencephaly, SIX3-Related SIX3 1007 96% Choriodal Dystrophy, Central Areolar 2 SIX4 2358 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 517

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SIX5 2232 54% Branchiootorenal Spectrum Disorders SIX5 2232 54% SIX5-Related Branchiootorenal Spectrum Disorders SIX6 749 100% Anophthalmia/Microphthalmia SIX6 749 100% SIX6-Related Eye Disorders SIX6 749 100% Choriodal Dystrophy, Central Areolar 2 SKA1 792 100% . SKA2 587 100% . SKA3 1374 96% . SKAP1 1233 96% . SKAP2 1128 100% . SKI 2215 70% . SKIL 3418 100% . SKIV2L 3853 100% . SKIV2L2 3237 100% . SKOR1 2806 72% . SKP1 711 100% . SKP2 1639 100% . SLA 1364 89% . SLA2 1076 100% . SLAIN1 1228 100% . SLAIN2 1778 78% . SLAMF1 1036 100% . SLAMF6 1455 100% . SLAMF7 1036 100% . SLAMF8 878 100% . SLAMF9 1445 100% . SLBP 845 78% . SLC10A1 1070 100% . SLC10A2 1071 100% . SLC10A3 4314 100% . SLC10A4 1326 72% . SLC10A5 1321 100% . SLC10A6 1158 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 518

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC10A7 1204 100% . SLC11A1 1713 99% . SLC11A2 2136 99% Hypochromic Microcytic Anemia with Iron Overload SLC12A1 3504 100% Antenatal Bartter Syndrome Type 1 SLC12A1 3504 100% Choriodal Dystrophy, Central Areolar 2 SLC12A2 3747 92% . SLC12A3 3430 96% Gitelman Syndrome SLC12A3 3430 96% Choriodal Dystrophy, Central Areolar 2 SLC12A4 3938 96% . SLC12A5 3580 94% . SLC12A6 4225 100% Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum SLC12A7 3348 94% . SLC12A8 2197 100% . SLC12A9 2797 91% . SLC13A1 1848 100% . SLC13A2 2262 100% . SLC13A3 2531 95% . SLC13A4 1945 95% . SLC13A5 1755 100% . SLC14A1 1550 90% . SLC14A2 2839 100% . SLC15A1 2219 100% . SLC15A2 2278 100% . SLC15A3 1778 72% . SLC15A4 1766 71% . SLC15A5 1776 79% . SLC16A1 1519 100% . SLC16A10 1572 92% . SLC16A11 1432 65% . SLC16A12 1575 100% . SLC16A13 1297 100% . SLC16A14 1549 100% . SLC16A2 1866 81% MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 519

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC16A3 1414 90% . SLC16A4 1719 100% . SLC16A5 1538 100% . SLC16A6 1592 100% . SLC16A7 1453 100% . SLC16A8 1531 44% . SLC16A9 1550 100% . SLC17A1 1448 100% . SLC17A2 1351 100% . SLC17A3 1541 100% . SLC17A4 1538 100% . SLC17A5 1532 99% Free Sialic Acid Storage Disorders SLC17A5 1532 99% Salla Disease SLC17A5 1532 99% Choriodal Dystrophy, Central Areolar 2 SLC17A6 1797 100% . SLC17A7 1731 97% . SLC17A8 1818 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant SLC17A8 1818 100% DFNA25 Nonsyndromic Hearing Loss and Deafness SLC17A9 1363 95% . SLC18A1 1756 98% . SLC18A2 1605 100% . SLC18A3 1603 99% . SLC19A1 1796 83% . SLC19A2 1518 87% Thiamine-Responsive Megaloblastic Anemia Syndrome SLC19A2 1518 87% Congenital Sideroblastic Anemia SLC19A2 1518 87% Choriodal Dystrophy, Central Areolar 2 SLC19A3 1511 100% Basal Ganglia Disease, Biotin-Responsive SLC1A1 1623 100% Dicarboxylicaminoaciduria SLC1A2 1913 99% . SLC1A3 1884 100% Episodic Ataxia Type 6 SLC1A4 1802 92% . SLC1A5 1836 85% . SLC1A6 1731 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 520

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC1A7 1727 97% . SLC20A1 2080 100% . SLC20A2 1999 100% Familial Idiopathic Basal Ganglia Calcification SLC20A2 1999 100% Familial Idiopathic Basal Ganglia Calcification 3 SLC22A1 1780 100% . SLC22A10 1666 100% . SLC22A11 1693 93% . SLC22A12 1875 97% Renal Hypouricemia 1 SLC22A13 1696 99% . SLC22A14 1825 97% . SLC22A15 1692 100% . SLC22A16 1766 97% . SLC22A17 1929 80% . SLC22A18 1315 77% . SLC22A18AS 770 0% . SLC22A2 1712 100% . SLC22A20 1074 93% . SLC22A23 2260 75% . SLC22A24 1696 58% . SLC22A25 1680 100% . SLC22A3 1715 86% . SLC22A4 1696 100% . SLC22A5 1714 98% Systemic Primary Carnitine Deficiency SLC22A5 1714 98% Choriodal Dystrophy, Central Areolar 2 SLC22A6 2473 98% . SLC22A7 1801 100% . SLC22A8 2114 100% . SLC22A9 1702 100% . SLC23A1 1949 92% . SLC23A2 2013 100% . SLC23A3 2278 99% . SLC24A1 3336 100% . SLC24A2 2026 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 521

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC24A3 2003 93% . SLC24A4 2199 97% . SLC24A5 1539 100% . SLC24A6 1815 93% . SLC25A1 972 76% . SLC25A10 908 87% . SLC25A11 1076 100% . SLC25A12 2109 100% Global Cerebral Hypomyelination SLC25A13 2195 99% Citrullinemia Type II SLC25A13 2195 99% Citrin Deficiency SLC25A14 1097 100% . SLC25A15 930 100% Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome SLC25A15 930 100% Choriodal Dystrophy, Central Areolar 2 SLC25A16 1035 95% . SLC25A17 960 100% . SLC25A18 984 96% . SLC25A19 987 100% Amish Lethal Microcephaly SLC25A2 910 100% . SLC25A20 942 97% Carnitine-Acylcarnitine Translocase Deficiency SLC25A20 942 97% Choriodal Dystrophy, Central Areolar 2 SLC25A21 1011 99% . SLC25A22 1008 84% Epileptic Encephalopathy, Early Infantile, 3 SLC25A23 1447 96% . SLC25A24 1604 92% . SLC25A25 2030 97% . SLC25A26 979 80% . SLC25A27 1008 100% . SLC25A28 1111 86% . SLC25A29 928 72% . SLC25A3 1243 100% Mitochondrial Phosphate Carrier Deficiency SLC25A30 912 100% . SLC25A31 972 100% . SLC25A32 976 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 522

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC25A33 994 94% . SLC25A34 935 90% . SLC25A35 953 100% . SLC25A36 1162 96% . SLC25A37 1033 99% . SLC25A38 943 100% Congenital Sideroblastic Anemia SLC25A38 943 100% Pyridoxine-Refractory Sideroblastic Anemia, Autosomal Recessive SLC25A39 1262 93% . SLC25A4 913 88% Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2 SLC25A40 1057 100% . SLC25A41 1141 100% . SLC25A42 985 96% . SLC25A43 1046 73% . SLC25A44 957 100% . SLC25A45 967 100% . SLC25A46 1289 81% . SLC25A47 951 100% . SLC25A48 494 91% . SLC25A5 913 96% . SLC25A6 1826 49% . SLC26A1 2217 75% . SLC26A10 1748 92% . SLC26A11 1885 95% . SLC26A2 2228 100% Achondrogenesis Type 1B SLC26A2 2228 100% Diastrophic Dysplasia SLC26A2 2228 100% Atelosteogenesis Type II SLC26A2 2228 100% Multiple Epiphyseal Dysplasia, Recessive SLC26A2 2228 100% Sulfate Transporter-Related Osteochondrodysplasia SLC26A2 2228 100% Choriodal Dystrophy, Central Areolar 2 SLC26A3 2375 100% Familial Chloride Diarrhea SLC26A3 2375 100% Choriodal Dystrophy, Central Areolar 2 SLC26A4 2423 94% SLC26A4-Related Pendred Syndrome SLC26A4 2423 94% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 523

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC26A4 2423 94% SLC26A4-Related Pendred Syndrome (319701) SLC26A4 2423 94% Pendred Syndrome/DFNB4 SLC26A5 2389 100% DFNB61 Nonsyndromic Hearing Loss and Deafness SLC26A6 3096 98% . SLC26A7 2104 100% . SLC26A8 2989 100% . SLC26A9 2804 98% . SLC27A1 1989 86% . SLC27A2 1903 100% . SLC27A3 2233 96% . SLC27A4 1980 100% . SLC27A5 2113 94% . SLC27A6 1900 100% . SLC28A1 2089 96% . SLC28A2 2045 100% . SLC28A3 2148 100% . SLC29A1 1419 100% . SLC29A2 1419 93% . SLC29A3 1627 100% Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, and Hypogonadism SLC29A4 1633 97% . SLC2A1 1519 99% Glucose Transporter Type 1 Deficiency Syndrome SLC2A1 1519 99% Dystonia 18 SLC2A1 1519 99% Dystonia 9 SLC2A1 1519 99% Choriodal Dystrophy, Central Areolar 2 SLC2A10 1646 100% Arterial Tortuosity Syndrome SLC2A11 1619 94% . SLC2A12 1874 100% . SLC2A13 1987 89% . SLC2A14 1603 94% . SLC2A2 1619 100% Fanconi-Bickel Syndrome SLC2A3 1531 100% . SLC2A4 1574 97% . SLC2A4RG 1196 65% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 524

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC2A5 2039 96% . SLC2A6 1564 77% . SLC2A7 1587 89% . SLC2A8 1474 69% . SLC2A9 1738 90% Renal Hypouricemia 2 SLC30A1 1532 100% . SLC30A10 1474 87% Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease SLC30A2 1151 100% . SLC30A3 1199 100% . SLC30A4 1318 100% . SLC30A5 2450 96% . SLC30A6 1566 92% . SLC30A7 1175 100% . SLC30A8 1346 100% . SLC30A9 1779 100% . SLC31A1 589 100% . SLC31A2 448 98% . SLC32A1 1586 100% . SLC33A1 1674 100% Spastic Paraplegia 42 SLC34A1 2059 96% Hypophosphatemic Nephrolithiasis/Osteoporosis, 1 SLC34A2 2263 100% . SLC34A3 1848 81% Hereditary Hypophosphatemic Rickets with Hypercalciuria SLC35A1 1046 98% Congenital Disorders of Glycosylation SLC35A1 1046 98% SLC35A1-CDG (CDG-IIf) SLC35A2 3161 81% . SLC35A3 1006 100% . SLC35A4 979 100% . SLC35A5 1299 100% . SLC35B1 1005 100% . SLC35B2 1315 99% . SLC35B3 1246 100% . SLC35B4 1036 92% . SLC35C1 1642 100% Congenital Disorders of Glycosylation UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 525

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC35C1 1642 100% SLC35C1-CDG (CDG-IIc) SLC35C2 1307 100% . SLC35D1 1116 100% . SLC35D2 1062 86% . SLC35D3 1259 84% . SLC35E1 1257 84% . SLC35E2 821 71% . SLC35E2B 1250 54% . SLC35E3 962 100% . SLC35E4 1061 94% . SLC35F1 1259 98% . SLC35F2 1157 99% . SLC35F3 1505 97% . SLC35F4 1383 100% . SLC35F5 1632 98% . SLC35G1 1295 86% . SLC35G3 1021 100% . SLC35G5 1021 100% . SLC35G6 1025 100% . SLC36A1 1471 100% . SLC36A2 1492 100% . SLC36A3 1580 92% . SLC36A4 1559 98% . SLC37A1 1678 100% . SLC37A2 1610 99% . SLC37A3 1936 100% . SLC37A4 1879 100% Glycogen Storage Disease Type Ib SLC37A4 1879 100% Glycogen Storage Disease Type I SLC37A4 1879 100% Choriodal Dystrophy, Central Areolar 2 SLC38A1 1524 100% . SLC38A10 4104 98% . SLC38A11 1261 100% . SLC38A2 1581 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 526

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC38A3 1575 100% . SLC38A4 1704 100% . SLC38A5 1479 92% . SLC38A6 1719 82% . SLC38A7 1429 90% . SLC38A8 1348 100% . SLC38A9 1742 100% . SLC39A1 987 99% . SLC39A10 2532 100% . SLC39A11 1214 100% . SLC39A12 2124 100% . SLC39A13 1277 99% Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like SLC39A14 1803 90% . SLC39A2 946 100% . SLC39A3 1383 100% . SLC39A4 2512 80% Acrodermatitis Enteropathica, Zinc-Deficiency Type SLC39A5 1663 100% . SLC39A6 2708 100% . SLC39A7 1438 100% . SLC39A8 1668 83% . SLC39A9 1154 100% . SLC3A1 2098 100% Cystinuria SLC3A1 2098 100% Choriodal Dystrophy, Central Areolar 2 SLC3A2 2474 75% . SLC40A1 1748 100% SLC40A1-Related Hereditary Hemochromatosis SLC41A1 1582 100% . SLC41A2 1762 100% . SLC41A3 2191 98% . SLC43A1 1736 99% . SLC43A2 1762 82% . SLC43A3 1524 99% . SLC44A1 2038 98% . SLC44A2 2244 97% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 527

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC44A3 2169 99% . SLC44A4 2300 100% . SLC44A5 2363 100% . SLC45A1 2279 100% . SLC45A2 1867 100% Oculocutaneous Albinism Type 4 SLC45A3 1678 100% . SLC45A4 2429 99% . SLC46A1 1563 100% Hereditary Folate Malabsorption SLC46A2 1444 100% . SLC46A3 1509 100% . SLC47A1 1781 92% . SLC47A2 2087 100% . SLC48A1 453 69% . SLC4A1 2812 97% Renal Tubular Acidosis, Distal, Autosomal Dominant SLC4A1 2812 97% Hemolytic Anemia due to Band 3 Montefiore SLC4A1 2812 97% Spherocytosis, Type 4 SLC4A1 2812 97% Ovalocytosis, Southeast Asian SLC4A1 2812 97% Renal Tubular Acidosis, Distal, with Hemolytic Anemia SLC4A10 3546 98% . SLC4A11 3115 98% Corneal Endothelial Dystrophy 2, Autosomal Recessive SLC4A1AP 2447 100% . SLC4A2 3855 92% . SLC4A3 4153 96% . SLC4A4 3948 99% Proximal Renal Tubular Acidosis with Ocular Abnormalities SLC4A4 3948 99% Choriodal Dystrophy, Central Areolar 2 SLC4A5 3518 100% . SLC4A7 3745 100% . SLC4A8 3632 99% . SLC4A9 2964 94% . SLC50A1 774 100% . SLC5A1 2164 100% Glucose-Galactose Malabsorption SLC5A10 2059 100% . SLC5A11 2088 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 528

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC5A12 1917 100% . SLC5A2 2075 100% Renal Glucosuria SLC5A3 2161 100% . SLC5A4 2040 100% . SLC5A5 1992 92% Thyroid Hormonogenesis Defect I SLC5A6 1968 100% . SLC5A7 1775 100% . SLC5A8 1893 100% . SLC5A9 2181 100% . SLC6A1 1856 100% . SLC6A11 1955 98% . SLC6A12 1901 90% . SLC6A13 2071 99% . SLC6A14 1985 97% . SLC6A15 2813 100% . SLC6A16 2255 100% . SLC6A17 2228 100% . SLC6A18 1935 100% . SLC6A19 1953 100% Hartnup Disease SLC6A2 2395 100% Norepinephrine Transporter Deficiency SLC6A20 1823 99% SLC6A20-Related Hyperglycinuria SLC6A3 1919 94% Parkinsonism-Dystonia, Infantile SLC6A4 1945 100% SLC6A4-Related Behavior Disorders SLC6A5 2458 98% Hyperekplexia SLC6A5 2458 98% SLC6A5-Related Hyperekplexia SLC6A6 2162 100% . SLC6A7 1967 98% . SLC6A8 2225 95% SLC6A8-Related Creatine Transporter Deficiency SLC6A8 2225 95% Creatine Deficiency Syndromes SLC6A8 2225 95% Choriodal Dystrophy, Central Areolar 2 SLC6A9 2211 100% . SLC7A1 1934 100% . SLC7A10 1616 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 529

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLC7A11 1554 100% . SLC7A13 1429 100% . SLC7A14 2344 100% . SLC7A2 2688 100% . SLC7A3 1904 97% . SLC7A4 1924 100% . SLC7A5 1564 90% . SLC7A6 1584 100% . SLC7A6OS 950 100% . SLC7A7 1572 100% Lysinuric Protein Intolerance SLC7A7 1572 100% Choriodal Dystrophy, Central Areolar 2 SLC7A8 1782 99% . SLC7A9 1512 100% Cystinuria SLC7A9 1512 100% Choriodal Dystrophy, Central Areolar 2 SLC8A1 3070 100% . SLC8A2 2802 87% . SLC8A3 3289 100% . SLC9A1 2496 95% . SLC9A10 3646 100% . SLC9A11 3483 100% . SLC9A2 2487 99% . SLC9A3 2573 83% . SLC9A3R1 1101 80% . SLC9A3R2 1205 73% . SLC9A4 2445 100% . SLC9A5 2755 94% . SLC9A6 2703 98% SLC9A6-Related Syndromic Mental Retardation SLC9A7 2246 96% . SLC9A8 1810 98% . SLC9A9 2002 100% . SLC9B1 1811 100% . SLC9B2 1658 100% . SLCO1A2 2069 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 530

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLCO1B1 2132 100% Rotor Syndrome SLCO1B3 2165 100% Rotor Syndrome SLCO1B7 1975 100% . SLCO1C1 2887 100% . SLCO2A1 1988 97% . SLCO2B1 2321 100% . SLCO3A1 2644 93% . SLCO4A1 2213 93% . SLCO4C1 2227 100% . SLCO5A1 3045 100% . SLCO6A1 2212 100% . SLFN11 2722 99% . SLFN12 1749 100% . SLFN12L 1783 99% . SLFN13 2710 100% . SLFN14 2755 0% . SLFN5 2692 100% . SLFNL1 1240 94% . SLIRP 346 100% . SLIT1 4753 93% . SLIT2 4738 100% . SLIT3 4716 93% . SLITRK1 2095 100% Tourette Syndrome SLITRK2 2542 100% . SLITRK3 2938 100% . SLITRK4 2518 100% . SLITRK5 2881 100% . SLITRK6 2530 100% . SLK 3784 100% . SLMAP 2520 100% . SLMO1 543 84% . SLMO2 609 98% . SLN 100 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 531

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SLPI 415 100% . SLTM 3662 100% . SLU7 1821 100% . SLURP1 324 100% Mal de Meleda SLX1A 1704 27% . SLX1B 1704 27% . SLX4 5561 97% Fanconi Anemia SLX4 5561 97% SLX4-Related Fanconi Anemia SMAD1 1422 100% . SMAD2 1444 100% . SMAD3 1669 94% Thoracic Aortic Aneurysms and Aortic Dissections SMAD3 1669 94% Loeys-Dietz Syndrome SMAD3 1669 94% SMAD3-Related Loeys-Dietz Syndrome SMAD3 1669 94% SMAD3-Related Thoracic Aortic Aneurysms and Aortic Dissections SMAD4 1703 100% Hereditary Hemorrhagic Telangiectasia SMAD4 1703 100% Juvenile Polyposis Syndrome SMAD4 1703 100% SMAD4-Related Juvenile Polyposis SMAD4 1703 100% Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome SMAD4 1703 100% SMAD4-Related Hereditary Hemorrhagic Telangiectasia SMAD4 1703 100% Myhre Syndrome SMAD4 1703 100% Choriodal Dystrophy, Central Areolar 2 SMAD5 1421 100% . SMAD6 1545 58% . SMAD7 1822 83% . SMAD9 1428 100% SMAD9-Related Heritable Pulmonary Arterial Hypertension SMAGP 331 98% . SMAP1 1448 100% . SMAP2 1529 94% . SMARCA1 3261 99% . SMARCA2 4905 97% SMARCA2-Related Coffin-Siris Syndrome SMARCA2 4905 97% Coffin-Siris Syndrome SMARCA2 4905 97% Nicolaides-Baraitser Syndrome SMARCA4 5569 94% SMARCA4-Related Coffin-Siris Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 532

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SMARCA4 5569 94% Coffin-Siris Syndrome SMARCA5 3255 96% . SMARCAD1 3515 100% . SMARCAL1 2929 98% Schimke Immunoosseous Dysplasia SMARCAL1 2929 98% Choriodal Dystrophy, Central Areolar 2 SMARCB1 1337 98% Schwannomatosis SMARCB1 1337 98% Rhabdoid Tumor Predisposition Syndrome 1 SMARCB1 1337 98% SMARCB1-Related Coffin-Siris Syndrome SMARCB1 1337 98% Coffin-Siris Syndrome SMARCC1 3430 99% . SMARCC2 4720 99% . SMARCD1 1600 89% . SMARCD2 1648 87% . SMARCD3 1547 85% . SMARCE1 1276 100% SMARCE1-Related Coffin-Siris Syndrome SMARCE1 1276 100% Coffin-Siris Syndrome SMC1A 3802 99% Cornelia de Lange Syndrome SMC1A 3802 99% SMC1A-Related Cornelia de Lange Syndrome SMC1B 3808 100% . SMC2 3690 100% . SMC3 3770 100% Cornelia de Lange Syndrome SMC3 3770 100% SMC3-Related Cornelia de Lange Syndrome SMC4 3959 97% . SMC5 3406 100% . SMC6 3380 100% . SMCHD1 6210 99% . SMCP 355 100% . SMCR7 2631 97% . SMCR7L 1408 100% . SMCR8 2822 100% . SMEK1 2523 100% . SMEK2 2618 100% . SMG1 11238 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 533

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SMG5 3139 100% . SMG6 6099 97% . SMG7 4438 99% . SMG8 2992 100% . SMG9 1615 100% . SMN1 1834 6% Spinal Muscular Atrophy (SMN1) SMN1 1834 6% Spinal Muscular Atrophy SMN1 1834 6% Choriodal Dystrophy, Central Areolar 2 SMN2 1872 7% Spinal Muscular Atrophy (SMN2) SMN2 1872 7% Spinal Muscular Atrophy SMN2 1872 7% Choriodal Dystrophy, Central Areolar 2 SMNDC1 737 100% . SMO 2412 83% . SMOC1 1377 95% . SMOC2 1514 87% . SMOX 3314 97% . SMPD1 2697 98% Acid Sphingomyelinase Deficiency SMPD1 2697 98% Choriodal Dystrophy, Central Areolar 2 SMPD2 1312 100% . SMPD3 1996 93% . SMPD4 2681 97% . SMPDL3A 1394 92% . SMPDL3B 1772 100% . SMPX 279 100% DFNX4 (DFN6) Nonsyndromic Hearing Loss and Deafness SMR3A 413 100% . SMR3B 248 100% . SMS 1145 95% Mental Retardation, X-Linked, Snyder-Robinson Type SMTN 3183 98% . SMTNL1 1513 99% . SMTNL2 1510 66% . SMU1 1590 100% . SMUG1 1353 100% . SMURF1 2439 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 534

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SMURF2 2323 98% . SMYD1 1513 99% . SMYD2 1350 99% . SMYD3 1403 97% . SMYD4 2455 96% . SMYD5 1309 100% . SNAI1 807 100% . SNAI2 819 100% Waardenburg Syndrome Type II SNAI2 819 100% Piebald Trait, SNAI2-Related SNAI2 819 100% Waardenburg Syndrome Type IID SNAI3 891 100% . SNAP23 664 100% . SNAP25 771 99% . SNAP29 797 98% Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome SNAP47 1813 95% . SNAP91 2913 100% . SNAPC1 1147 100% . SNAPC2 1025 89% . SNAPC3 1272 79% . SNAPC4 4498 90% . SNAPC5 309 100% . SNAPIN 427 93% . SNCA 443 100% Parkinson Disease SNCA 443 100% SNCA-Related Parkinson Disease SNCAIP 2871 100% Parkinson Disease SNCB 425 100% . SNCG 404 92% . SND1 2829 97% . SNED1 4366 89% . SNF8 809 100% . SNIP1 1207 97% . SNN 271 100% . SNPH 1501 87% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 535

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SNRK 2318 100% . SNRNP200 6591 100% Retinitis Pigmentosa, Autosomal Dominant SNRNP200 6591 100% Retinitis Pigmentosa SNRNP200 6591 100% SNRNP200-Related Retinitis Pigmentosa SNRNP25 419 91% . SNRNP27 492 100% . SNRNP35 1512 100% . SNRNP40 1114 100% . SNRNP48 1056 85% . SNRNP70 1350 64% . SNRPA 873 100% . SNRPA1 804 92% . SNRPB 766 100% . SNRPB2 702 100% . SNRPC 504 100% . SNRPD1 376 100% . SNRPD2 553 100% . SNRPD3 393 100% . SNRPE 299 100% . SNRPF 277 100% . SNRPG 247 100% . SNRPN 751 100% Autistic Disorder SNRPN 751 100% Autism Spectrum Disorders SNRPN 751 100% Choriodal Dystrophy, Central Areolar 2 SNTA1 1550 79% Romano-Ward Syndrome SNTA1 1550 79% Long QT Syndrome 12 SNTB1 1645 99% . SNTB2 1651 68% . SNTG1 1622 100% . SNTG2 1688 95% . SNTN 460 100% . SNUPN 1115 100% . SNURF 228 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 536

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SNW1 1738 100% . SNX1 1629 90% . SNX10 824 100% . SNX11 837 100% . SNX12 781 95% . SNX13 2978 100% . SNX14 2957 100% . SNX15 1061 95% . SNX16 1063 100% . SNX17 1473 95% . SNX18 6189 82% . SNX19 3023 100% . SNX2 1620 95% . SNX20 1106 93% . SNX21 2688 98% . SNX22 610 73% . SNX24 538 97% . SNX25 2595 100% . SNX27 1635 86% . SNX29 2499 100% . SNX3 505 100% . SNX30 1350 88% . SNX31 1379 99% . SNX32 1264 97% . SNX33 1733 100% . SNX4 1409 93% . SNX5 1267 96% . SNX6 1439 94% . SNX7 1392 87% . SNX8 1442 86% . SNX9 1860 98% . SOAT1 1991 100% . SOAT2 1629 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 537

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SOBP 2646 87% . SOCS1 640 66% . SOCS2 605 77% . SOCS3 682 87% . SOCS4 1327 100% . SOCS5 1615 100% . SOCS6 1612 100% . SOCS7 1782 63% . SOD1 485 100% SOD1-Related Amyotrophic Lateral Sclerosis SOD1 485 100% Amyotrophic Lateral Sclerosis SOD2 689 96% . SOD3 727 69% . SOHLH1 1353 90% . SOHLH2 1322 100% . SOLH 3305 76% . SON 7588 100% . SORBS1 5351 98% . SORBS2 4763 96% . SORBS3 2240 94% . SORCS1 4329 95% . SORCS2 3588 87% . SORCS3 3777 87% . SORD 1110 84% . SORL1 6837 98% . SORT1 2789 89% . SOS1 4094 100% Noonan Syndrome SOS1 4094 100% SOS1-Related Noonan Syndrome SOS1 4094 100% Gingival Fibromatosis 1 SOS2 4091 100% . SOST 650 94% SOST-Related Sclerosing Bone Dysplasias SOST 650 94% Choriodal Dystrophy, Central Areolar 2 SOSTDC1 629 100% . SOWAHA 1654 36% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 538

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SOWAHB 2386 84% . SOWAHC 1582 52% . SOWAHD 952 30% . SOX1 1180 38% . SOX10 1413 93% Waardenburg Syndrome Type II SOX10 1413 93% Waardenburg Syndrome Type IIE SOX10 1413 93% Waardenburg Syndrome Type IVC SOX10 1413 93% Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease SOX11 1330 65% . SOX12 952 56% . SOX13 1921 99% . SOX14 727 100% . SOX15 710 79% . SOX17 1253 79% . SOX18 1163 40% Hypotrichosis-Lymphedema-Telangiectasia Syndrome SOX2 958 98% Anophthalmia/Microphthalmia SOX2 958 98% SOX2-Related Eye Disorders SOX2 958 98% Choriodal Dystrophy, Central Areolar 2 SOX21 835 51% . SOX3 1345 54% Mental Retardation, X-Linked, with Growth Hormone Deficiency SOX3 1345 54% Choriodal Dystrophy, Central Areolar 2 SOX30 2668 91% . SOX4 1429 70% . SOX5 2598 100% . SOX6 3354 100% . SOX7 1175 100% . SOX8 1353 80% . SOX9 1542 100% Campomelic Dysplasia SP1 4058 100% . SP100 3555 100% . SP110 2452 99% Hepatic Veno-occlusive Disease with Immunodeficiency SP140 2829 97% . SP140L 1819 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 539

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SP2 1870 99% . SP3 2628 89% . SP4 2379 100% . SP5 1205 65% . SP6 1135 92% . SP7 1304 98% SP7-Related Osteogenesis Imperfecta SP7 1304 98% Osteogenesis Imperfecta Type XI SP8 3045 64% . SP9 1463 57% . SPA17 472 100% . SPACA1 913 84% . SPACA3 668 100% . SPACA4 379 98% . SPACA5 992 20% . SPACA5B 992 20% . SPACA7 616 100% . SPAG1 2853 88% . SPAG11A 343 61% . SPAG11B 1462 64% . SPAG16 2134 96% . SPAG17 6864 99% . SPAG4 1362 88% . SPAG5 3678 100% . SPAG6 1748 99% . SPAG7 712 100% . SPAG8 1761 100% . SPAG9 4086 100% . SPAM1 2087 97% . SPANXA1 604 0% . SPANXA2 604 0% . SPANXB1 640 0% . SPANXB2 640 0% . SPANXC 302 92% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 540

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SPANXD 302 100% . SPANXE 302 100% . SPANXF1 640 0% . SPANXN1 227 100% . SPANXN2 551 100% . SPANXN3 434 100% . SPANXN4 308 100% . SPANXN5 227 100% . SPARC 948 100% . SPARCL1 2035 100% . SPAST 1919 96% Spastic Paraplegia 4 SPAST 1919 96% Choriodal Dystrophy, Central Areolar 2 SPATA12 577 100% . SPATA13 4252 100% . SPATA16 1750 100% Spermatogenic Failure 6 SPATA17 1126 100% . SPATA18 1669 100% . SPATA19 528 100% . SPATA2 1571 100% . SPATA20 2477 97% . SPATA21 1454 98% . SPATA22 1320 100% . SPATA24 642 100% . SPATA25 692 100% . SPATA2L 1283 83% . SPATA3 591 100% . SPATA4 942 100% . SPATA5 2746 100% . SPATA5L1 2294 88% . SPATA6 1519 98% . SPATA7 1848 100% Retinitis Pigmentosa, Autosomal Recessive SPATA7 1848 100% Leber Congenital Amaurosis SPATA7 1848 100% Retinitis Pigmentosa UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 541

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SPATA7 1848 100% SPATA7-Related Leber Congenital Amaurosis SPATA7 1848 100% SPATA7-Related Retinitis Pigmentosa SPATA8 330 100% . SPATA9 785 100% . SPATC1 2130 100% . SPATS1 935 100% . SPATS2 1686 100% . SPATS2L 1721 100% . SPC24 614 92% . SPC25 699 100% . SPCS1 526 91% . SPCS2 701 83% . SPCS3 563 100% . SPDEF 1028 98% . SPDYA 1290 100% . SPDYC 910 100% . SPDYE1 1035 100% . SPDYE2 2474 24% . SPDYE2L 2474 24% . SPDYE3 1690 89% . SPDYE4 738 100% . SPDYE5 1042 100% . SPDYE6 1237 47% . SPECC1 3543 99% . SPECC1L 3502 100% . SPEF1 739 96% . SPEF2 5832 100% . SPEG 10160 79% . SPEM1 942 97% . SPEN 11055 100% . SPERT 1359 85% . SPESP1 1061 100% . SPG11 7492 100% Spastic Paraplegia 11 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 542

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SPG20 2033 100% Troyer Syndrome SPG21 959 100% Mast Syndrome SPG7 2606 93% Spastic Paraplegia 7 SPHAR 196 100% . SPHK1 1886 82% . SPHK2 3095 99% . SPHKAP 5151 100% . SPI1 940 82% . SPIB 1503 63% . SPIC 761 100% . SPICE1 2636 100% . SPIN1 809 100% . SPIN2A 781 86% . SPIN2B 781 86% . SPIN3 781 100% . SPIN4 754 100% . SPINK1 256 100% Hereditary Pancreatitis SPINK1 256 100% SPINK1-Related Hereditary Pancreatitis SPINK1 256 100% Choriodal Dystrophy, Central Areolar 2 SPINK13 301 100% . SPINK14 310 89% . SPINK2 271 79% . SPINK4 277 100% . SPINK5 3522 100% Netherton Syndrome SPINK5 3522 100% Choriodal Dystrophy, Central Areolar 2 SPINK6 259 100% . SPINK7 274 100% . SPINK8 314 100% . SPINK9 277 100% . SPINLW1 461 100% . SPINLW1-WFDC6 603 100% . SPINT1 1853 100% . SPINT2 787 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 543

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SPINT3 278 100% . SPINT4 312 100% . SPIRE1 2378 86% . SPIRE2 2205 78% . SPN 1207 96% . SPNS1 1880 94% . SPNS2 1698 79% . SPNS3 1587 96% . SPO11 1243 100% . SPOCD1 3711 91% . SPOCK1 1360 99% . SPOCK2 1368 89% . SPOCK3 2021 100% . SPON1 2487 94% . SPON2 1016 81% . SPOP 1161 100% . SPOPL 1219 100% . SPP1 969 100% . SPP2 664 100% . SPPL2A 1623 96% . SPPL2B 2045 89% . SPPL3 1199 91% . SPR 798 64% Dopa-Responsive Dystonia Due to Sepiapterin Reductase Deficiency SPR 798 64% Choriodal Dystrophy, Central Areolar 2 SPRED1 1363 99% Legius Syndrome SPRED2 1302 98% . SPRED3 1293 48% . SPRN 460 9% . SPRR1A 274 100% . SPRR1B 274 100% . SPRR2A 223 100% . SPRR2B 223 100% . SPRR2D 223 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 544

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SPRR2E 223 100% . SPRR2F 223 100% . SPRR2G 226 100% . SPRR3 514 100% . SPRR4 244 100% . SPRY1 964 100% . SPRY2 952 100% . SPRY3 1742 50% . SPRY4 1928 100% . SPRYD3 1373 89% . SPRYD4 632 100% . SPRYD5 1383 100% . SPRYD7 611 99% . SPSB1 830 100% . SPSB2 800 99% . SPSB3 1092 98% . SPSB4 830 59% . SPTA1 7468 100% Spherocytosis, Type 3 SPTA1 7468 100% Elliptocytosis 2 SPTA1 7468 100% Hereditary Pyropoikilocytosis SPTAN1 7658 100% Epileptic Encephalopathy, Early Infantile, 5 SPTB 7345 98% Spherocytosis, Type 2 SPTB 7345 98% Elliptocytosis 3 SPTBN1 7590 100% . SPTBN2 7317 98% Spinocerebellar Ataxia Type 5 SPTBN4 8423 72% . SPTBN5 11188 92% . SPTLC1 1491 100% Hereditary Sensory Neuropathy Type IA SPTLC1 1491 100% Hereditary Sensory and Autonomic Neuropathy II SPTLC1 1491 100% Choriodal Dystrophy, Central Areolar 2 SPTLC2 1737 92% Hereditary Sensory and Autonomic Neuropathy Type IC SPTLC3 1707 100% . SPTSSA 224 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 545

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SPTSSB 235 100% . SPTY2D1 2082 100% . SPZ1 1297 100% . SQLE 1769 100% . SQRDL 1389 92% . SQSTM1 1455 93% Paget Disease of Bone SRA1 926 91% . SRBD1 3068 100% . SRC 1655 92% . SRCAP 9821 99% Floating-Harbor Syndrome SRCIN1 3628 70% . SRCRB4D 1768 75% . SRD5A1 800 94% . SRD5A2 784 100% Prostate Cancer SRD5A2 784 100% Steroid 5-Alpha-Reductase Deficiency SRD5A2 784 100% Choriodal Dystrophy, Central Areolar 2 SRD5A3 977 98% Congenital Disorders of Glycosylation SRD5A3 977 98% SRD5A3-CDG (CDG-Iq) SREBF1 3614 80% . SREBF2 3502 94% . SREK1 2043 92% . SREK1IP1 488 100% . SRF 1555 82% . SRFBP1 1322 100% . SRGAP1 3346 100% . SRGAP2 3424 97% . SRGAP3 3423 97% . SRGN 489 100% . SRI 639 92% . SRL 1446 99% . SRM 941 88% . SRMS 1499 83% . SRP14 431 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 546

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SRP19 731 100% . SRP54 1657 100% . SRP68 1948 100% . SRP72 2092 100% . SRP9 385 71% . SRPK1 2032 99% . SRPK2 2206 100% . SRPK3 2389 94% . SRPR 1973 100% . SRPRB 844 100% . SRPX 1623 95% . SRPX2 1438 99% Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked SRR 1051 100% . SRRD 1048 80% . SRRM1 2783 100% . SRRM2 8315 99% . SRRM3 2017 47% . SRRM4 1888 100% . SRRM5 2187 12% . SRRT 2975 100% . SRSF1 1048 100% . SRSF10 971 30% . SRSF11 1705 100% . SRSF12 806 100% . SRSF2 674 100% . SRSF3 515 100% . SRSF4 1509 100% . SRSF5 847 100% . SRSF6 1059 90% . SRSF7 749 100% . SRSF8 852 95% . SRSF9 682 99% . SRXN1 422 77% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 547

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SRY 619 100% SRY-Related 46,XY DSD and 46,XY CGD SRY 619 100% 46,XX Testicular Disorder of Sex Development SRY 619 100% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis SRY 619 100% Choriodal Dystrophy, Central Areolar 2 SS18 1301 98% . SS18L1 1235 91% . SS18L2 246 100% . SSB 1271 100% . SSBP1 471 100% . SSBP2 1154 96% . SSBP3 1239 93% . SSBP4 1230 68% . SSC5D 4853 73% . SSFA2 3948 95% . SSH1 4277 97% . SSH2 4332 99% . SSH3 2036 95% . SSNA1 372 100% . SSPN 835 76% . SSPO 17129 86% . SSR1 893 100% . SSR2 572 100% . SSR3 578 100% . SSR4 702 81% . SSRP1 2194 100% . SSSCA1 616 100% . SST 359 73% . SSTR1 1180 100% . SSTR2 1114 100% . SSTR3 1261 100% . SSTR4 1171 100% . SSTR5 1099 100% . SSU72 605 92% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 548

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SSX1 591 100% . SSX2 1692 0% . SSX2B 1182 0% . SSX2IP 2071 100% . SSX3 642 100% . SSX4 1470 23% . SSX4B 1470 23% . SSX5 718 100% . SSX7 591 100% . ST13 1158 100% . ST14 2644 92% . ST18 3224 100% . ST20 248 80% . ST20-MTHFS 552 91% . ST3GAL1 1047 100% . ST3GAL2 1077 100% . ST3GAL3 1644 100% . ST3GAL4 1184 99% . ST3GAL5 1302 93% Amish Infantile Epilepsy Syndrome ST3GAL6 1032 100% . ST5 3490 97% . ST6GAL1 1343 100% . ST6GAL2 1697 99% . ST6GALNAC1 1839 100% . ST6GALNAC2 1161 88% . ST6GALNAC3 952 97% . ST6GALNAC4 1346 97% . ST6GALNAC5 1031 98% . ST6GALNAC6 1026 100% . ST7 1922 100% . ST7L 2097 98% . ST8SIA1 1091 100% . ST8SIA2 1152 92% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 549

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ST8SIA3 1159 100% . ST8SIA4 1370 100% . ST8SIA5 1159 100% . ST8SIA6 1229 90% . STAB1 7989 97% . STAB2 7932 98% . STAC 1253 100% . STAC2 1280 97% . STAC3 1139 100% . STAG1 3909 100% . STAG2 3939 100% . STAG3 3810 100% . STAM 1679 100% . STAM2 1634 100% . STAMBP 1311 100% . STAMBPL1 1351 100% . STAP1 924 100% . STAP2 1619 70% . STAR 886 100% Cholesterol Desmolase-Deficient Congenital Adrenal Hyperplasia STARD10 900 100% . STARD13 4021 100% . STARD3 1605 100% . STARD3NL 733 100% . STARD4 638 100% . STARD5 666 99% . STARD6 687 100% . STARD7 1145 96% . STARD8 3440 93% . STARD9 14235 50% . STAT1 2433 100% Familial Atypical Mycobacteriosis, STAT1-Related STAT2 2748 100% . STAT3 2739 100% Autosomal Dominant Hyper IgE Syndrome STAT4 2339 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 550

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) STAT5A 2457 98% . STAT5B 2436 98% Growth Hormone Insensitivity with Immunodeficiency STAT6 2716 100% . STATH 205 100% . STAU1 2178 100% . STAU2 2529 92% . STBD1 1085 96% . STC1 760 100% . STC2 925 100% . STEAP1 1036 100% . STEAP1B 1599 100% . STEAP2 1853 100% . STEAP3 2021 100% . STEAP4 1396 100% . STH 391 100% . STIL 4149 100% Primary Autosomal Recessive Microcephaly STIL 4149 100% Primary Autosomal Recessive Microcephaly Type 7 STIM1 2106 96% . STIM2 2358 92% . STIP1 1688 99% . STK10 2983 97% . STK11 1338 83% Peutz-Jeghers Syndrome STK11 1338 83% Choriodal Dystrophy, Central Areolar 2 STK11IP 3400 100% . STK16 946 100% . STK17A 1273 90% . STK17B 1147 100% . STK19 1302 94% . STK24 1422 97% . STK25 1325 98% . STK3 1520 98% . STK31 3207 100% . STK32A 1272 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 551

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) STK32B 1293 99% . STK32C 1509 81% . STK33 1593 100% . STK35 1617 67% . STK36 4131 100% . STK38 1450 100% . STK38L 1447 100% . STK39 1710 90% . STK4 1508 97% . STK40 1348 100% . STMN1 617 76% . STMN2 710 88% . STMN3 563 86% . STMN4 675 100% . STOM 895 93% . STOML1 1225 94% . STOML2 1111 100% . STOML3 933 97% . STON1 2220 100% . STON1-GTF2A1L 3629 100% . STON2 3050 100% . STOX1 5810 95% . STOX2 2797 100% . STRA13 208 38% . STRA6 2735 82% Syndromic Microphthalmia 9 STRA8 1029 81% . STRADA 2204 99% . STRADB 1301 100% . STRAP 1093 100% . STRBP 2312 100% . STRC 5444 46% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive STRC 5444 46% DFNB16 Nonsyndromic Hearing Loss and Deafness STRC 5444 46% Deafness-Infertility Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 552

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) STRC 5444 46% CATSPER-Related Male Infertility STRN 2415 97% . STRN3 2466 92% . STRN4 2471 87% . STS 1792 99% Ichthyosis, X-Linked STS 1792 99% Choriodal Dystrophy, Central Areolar 2 STT3A 2186 100% . STT3B 2545 97% . STUB1 940 80% . STX10 782 97% . STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis STX11 868 100% Familial Hemophagocytic Lymphohistiocytosis 4 STX12 867 100% . STX16 1262 100% Pseudohypoparathyroidism Type IB STX17 937 100% . STX18 1052 100% . STX19 889 100% . STX1A 1104 97% . STX1B 907 95% . STX2 989 97% . STX3 962 94% . STX4 934 96% . STX5 1272 83% . STX6 800 100% . STX7 822 100% . STX8 743 97% . STXBP1 1975 95% Epileptic Encephalopathy, Early Infantile, 4 STXBP2 1941 84% Familial Hemophagocytic Lymphohistiocytosis STXBP2 1941 84% Familial Hemophagocytic Lymphohistiocytosis 5 STXBP3 1855 97% . STXBP4 1726 100% . STXBP5 3568 100% . STXBP5L 3669 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 553

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) STXBP6 653 99% . STYK1 1305 100% . STYX 716 100% . STYXL1 974 100% . SUB1 400 100% . SUCLA2 1436 99% SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SUCLA2 1436 99% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form SUCLG1 1077 91% Fatal Infantile Lactic Acidosis SUCLG1 1077 91% SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria SUCLG1 1077 91% Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form SUCLG2 1487 86% . SUCNR1 1013 100% . SUDS3 1035 87% . SUFU 1513 99% Medulloblastoma, SUFU-Related SUGP1 1994 100% . SUGP2 3285 100% . SUGT1 1154 91% . SULF1 2692 100% . SULF2 2731 94% . SULT1A1 1062 93% . SULT1A2 916 100% . SULT1A3 1832 6% . SULT1A4 1832 6% . SULT1B1 919 100% . SULT1C2 1120 91% . SULT1C3 943 100% . SULT1C4 937 100% . SULT1E1 913 100% . SULT2A1 882 100% . SULT2B1 1325 92% . SULT4A1 883 87% . SULT6B1 826 100% . SUMF1 1161 96% Multiple Sulfatase Deficiency UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 554

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SUMF2 1725 95% . SUMO1 326 100% Cleft Lip +/- Cleft Palate SUMO1 326 100% Orofacial Cleft10 SUMO2 304 100% . SUMO3 328 92% . SUMO4 292 100% . SUN1 3358 98% . SUN2 2448 96% . SUN3 1114 100% . SUN5 1192 88% . SUOX 1650 100% Sulfocysteinuria SUOX 1650 100% Choriodal Dystrophy, Central Areolar 2 SUPT16H 3248 100% . SUPT3H 1136 100% . SUPT4H1 374 100% . SUPT5H 3380 99% . SUPT6H 5325 99% . SUPT7L 1265 100% . SUPV3L1 2421 100% . SURF1 939 88% Leigh Syndrome (nuclear DNA mutation) SURF1 939 88% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) SURF1 939 88% Choriodal Dystrophy, Central Areolar 2 SURF2 795 73% . SURF4 834 94% . SURF6 1106 99% . SUSD1 2312 95% . SUSD2 2529 96% . SUSD3 788 88% . SUSD4 1658 99% . SUSD5 1910 94% . SUV39H1 1263 92% . SUV39H2 3285 99% . SUV420H1 2915 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 555

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SUV420H2 1421 74% . SUZ12 2284 96% . SV2A 2277 100% . SV2B 2285 100% . SV2C 2232 100% . SVEP1 10908 99% . SVIL 6785 100% . SVIP 250 98% . SVOP 1548 59% . SVOPL 1615 100% . SWAP70 1806 97% . SWI5 728 100% . SWSAP1 698 100% . SWT1 2775 100% . SYAP1 1095 86% . SYBU 2685 99% . SYCE1 1218 98% . SYCE1L 773 50% . SYCE2 681 100% . SYCE3 275 57% . SYCN 413 98% . SYCP1 3055 100% . SYCP2 4765 100% . SYCP2L 2555 100% . SYCP3 769 100% SYCP3-Related Pregnancy Loss, Susceptibility to SYCP3 769 100% Azoospermia due to Perturbations of Meiosis SYDE1 2240 55% . SYDE2 3613 91% . SYF2 760 100% . SYK 1960 100% . SYMPK 3929 88% . SYN1 2310 54% Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders SYN2 2003 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 556

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SYN3 2096 96% . SYNC 1608 96% . SYNCRIP 3040 100% . SYNDIG1 789 100% . SYNDIG1L 729 100% . SYNE1 27725 100% SYNE1-Related Autosomal Recessive Cerebellar Ataxia SYNE1 27725 100% SYNE1-Related Emery-Dreifuss Muscular Dystrophy SYNE2 21883 100% SYNE2-Related Emery-Dreifuss Muscular Dystrophy SYNGAP1 4108 95% Mental Retardation, Autosomal Dominant 5 SYNGR1 921 92% . SYNGR2 691 85% . SYNGR3 706 54% . SYNGR4 721 100% . SYNJ1 5321 96% . SYNJ2 4599 95% . SYNJ2BP 454 100% . SYNJ2BP-COX16 718 100% . SYNM 12105 94% . SYNPO 8274 90% . SYNPO2 6135 99% . SYNPO2L 3054 89% . SYNPR 910 90% . SYNRG 4830 97% . SYP 966 90% SYP-Related X-Linked Mental Retardation SYPL1 880 96% . SYPL2 843 84% . SYS1 488 73% . SYT1 1301 100% . SYT10 1600 100% . SYT11 1312 100% . SYT12 1294 100% . SYT13 1444 95% . SYT14 2100 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 557

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) SYT15 1352 100% . SYT16 1962 100% . SYT17 1457 99% . SYT2 1292 100% . SYT3 1805 90% . SYT4 1294 100% . SYT5 1193 88% . SYT6 1563 100% . SYT7 1248 88% . SYT8 1242 96% . SYT9 1504 91% . SYTL1 1822 68% . SYTL2 5637 100% . SYTL3 1681 94% . SYTL4 2080 100% . SYTL5 2327 96% . SYVN1 2092 99% . SZT2 8330 98% . T 1340 100% . TAAR1 1024 100% . TAAR2 2064 100% . TAAR5 1018 100% . TAAR6 1042 100% Schizophrenia TAAR8 1033 100% . TAAR9 1051 100% . TAB1 1645 98% . TAB2 2106 100% . TAB3 2167 100% . TAC1 414 100% . TAC3 386 100% . TAC4 489 100% . TACC1 3588 95% . TACC2 9007 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 558

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TACC3 2577 95% . TACO1 914 90% Mitochondrial Respiratory Chain Complex IV Deficiency (nuclear genes) TACR1 1453 100% . TACR2 1217 99% . TACR3 1418 100% Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency TACR3 1418 100% TACR3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency TACSTD2 976 76% Corneal Dystrophy, Gelatinous Drop-Like TACSTD2 976 76% Choriodal Dystrophy, Central Areolar 2 TADA1 1040 100% . TADA2A 1697 100% . TADA2B 1271 92% . TADA3 1529 100% . TAF1 6080 100% X-Linked Dystonia-Parkinsonism Syndrome TAF10 677 68% . TAF11 656 100% . TAF12 506 100% . TAF13 391 100% . TAF15 1932 100% . TAF1A 1511 100% . TAF1B 1827 99% . TAF1C 4160 94% . TAF1D 857 100% . TAF1L 5485 100% . TAF2 3704 100% . TAF3 2818 96% . TAF4 3318 63% . TAF4B 2649 98% . TAF5 2447 87% . TAF5L 2527 100% . TAF6 2540 99% . TAF6L 1909 90% . TAF7 1054 100% . TAF7L 1513 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 559

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TAF8 969 95% . TAF9 1361 99% . TAF9B 784 100% . TAGAP 2582 100% . TAGLN 622 100% . TAGLN2 616 100% . TAGLN3 616 100% . TAL1 1008 70% . TAL2 331 100% . TALDO1 1046 100% Transaldolase Deficiency TAMM41 979 100% . TANC1 7502 100% . TANC2 6073 99% . TANK 1495 100% . TAOK1 3082 100% . TAOK2 8138 98% . TAOK3 2773 100% . TAP1 2471 96% . TAP2 2190 98% . TAPBP 1778 100% . TAPBPL 1435 92% . TAPT1 1760 88% . TARBP1 4986 87% . TARBP2 1311 87% . TARDBP 1265 100% Amyotrophic Lateral Sclerosis TARDBP 1265 100% TARDBP-Related Amyotrophic Lateral Sclerosis TARDBP 1265 100% TARDBP-Related Frontotemporal Dementia TARM1 836 0% . TARP 843 100% . TARS 2248 100% . TARS2 2229 100% . TARSL2 2485 95% . TAS1R1 2550 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 560

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TAS1R2 2544 100% . TAS1R3 2583 98% . TAS2R1 904 100% . TAS2R10 928 100% . TAS2R13 916 100% . TAS2R14 958 100% . TAS2R16 880 100% . TAS2R19 904 100% . TAS2R20 934 100% . TAS2R3 955 100% . TAS2R30 964 100% . TAS2R31 934 100% . TAS2R38 1006 100% . TAS2R39 1021 100% . TAS2R4 904 100% . TAS2R40 976 100% . TAS2R41 928 100% . TAS2R42 949 100% . TAS2R43 934 99% . TAS2R46 934 100% . TAS2R5 904 100% . TAS2R50 904 100% . TAS2R60 961 100% . TAS2R7 961 100% . TAS2R8 934 100% . TAS2R9 943 100% . TASP1 1315 100% . TAT 1409 96% Tyrosinemia Type II TAT 1409 96% Choriodal Dystrophy, Central Areolar 2 TATDN1 1010 100% . TATDN2 2310 100% . TATDN3 1246 100% . TAX1BP1 2773 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 561

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TAX1BP3 391 100% . TAZ 923 94% 3-Methylglutaconic Aciduria Type 2 TAZ 923 94% Dilated Cardiomyopathy TAZ 923 94% Familial Isolated Noncompaction of Left Ventricular Myocardium TAZ 923 94% Endocardial Fibroelastosis TAZ 923 94% TAZ-Related Dilated Cardiomyopathy TAZ 923 94% Choriodal Dystrophy, Central Areolar 2 TBC1D1 4180 100% . TBC1D10A 1667 100% . TBC1D10B 2463 75% . TBC1D10C 1377 70% . TBC1D12 2380 76% . TBC1D13 1251 98% . TBC1D14 2141 100% . TBC1D15 2206 97% . TBC1D16 2348 84% . TBC1D17 2015 86% . TBC1D19 1665 100% . TBC1D2 2806 97% . TBC1D20 1244 94% . TBC1D21 1055 100% . TBC1D22A 1606 94% . TBC1D22B 1570 96% . TBC1D23 2176 100% . TBC1D24 1708 97% Familial Infantile Myoclonic Epilepsy TBC1D25 2091 93% . TBC1D26 789 91% . TBC1D28 661 87% . TBC1D29 473 100% . TBC1D2B 3144 91% . TBC1D3 3404 21% . TBC1D30 2334 87% . TBC1D3B 1702 53% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 562

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TBC1D3C 1702 40% . TBC1D3F 3404 21% . TBC1D3G 1702 32% . TBC1D3H 1702 9% . TBC1D4 3981 100% . TBC1D5 2538 100% . TBC1D7 910 100% . TBC1D8 3503 96% . TBC1D8B 3513 100% . TBC1D9 3885 100% . TBC1D9B 3841 93% . TBCA 343 88% . TBCB 759 79% . TBCC 1045 100% . TBCCD1 1698 100% . TBCD 3735 94% . TBCE 1648 100% . TBCEL 1303 100% . TBCK 2928 100% . TBK1 2270 100% . TBKBP1 1884 64% . TBL1X 1906 93% . TBL1XR1 1601 100% . TBL1Y 1625 99% . TBL2 1372 99% . TBL3 2515 94% . TBP 1495 100% Spinocerebellar Ataxia Type17 TBPL1 585 100% . TBPL2 1156 100% . TBR1 2073 87% . TBRG1 1272 100% . TBRG4 1936 100% . TBX1 1826 74% 22q11.2 Deletion Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 563

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TBX10 1190 86% . TBX15 1519 100% . TBX18 1856 97% . TBX19 1379 100% ACTH Deficiency TBX2 2167 66% . TBX20 1465 99% Isolated Nonsyndromic Congenital Heart Disease/Defects TBX21 1632 77% . TBX22 1701 99% Cleft Palate, X-Linked TBX3 2264 66% Ulnar-Mammary Syndrome TBX3 2264 66% Choriodal Dystrophy, Central Areolar 2 TBX4 1670 91% Small Patella Syndrome TBX5 2055 100% TBX5-Related Holt-Oram Syndrome TBX5 2055 100% Choriodal Dystrophy, Central Areolar 2 TBX6 1343 87% . TBXA2R 1535 77% . TBXAS1 1935 100% . TC2N 1517 100% . TCAP 512 100% Familial Hypertrophic Cardiomyopathy TCAP 512 100% Dilated Cardiomyopathy TCAP 512 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive TCAP 512 100% Limb-Girdle Muscular Dystrophy Type 2G TCAP 512 100% TCAP-Related Familial Hypertrophic Cardiomyopathy TCAP 512 100% TCAP-Related Dilated Cardiomyopathy TCAP 512 100% Choriodal Dystrophy, Central Areolar 2 TCEA1 946 100% . TCEA2 1007 92% . TCEA3 1091 100% . TCEAL1 484 92% . TCEAL2 688 100% . TCEAL3 607 100% . TCEAL4 652 100% . TCEAL5 625 100% . TCEAL6 556 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 564

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TCEAL7 307 100% . TCEAL8 358 100% . TCEANC 1154 93% . TCEANC2 643 100% . TCEB1 499 100% . TCEB2 627 94% . TCEB3 2441 91% . TCEB3B 2266 100% . TCEB3C 3290 42% . TCEB3CL 4935 41% . TCERG1 3385 100% . TCERG1L 1809 76% . TCF12 2270 100% . TCF15 608 34% . TCF19 1050 97% . TCF20 5921 100% . TCF21 548 100% . TCF23 657 75% . TCF24 512 2% . TCF25 2103 98% . TCF3 2268 64% . TCF4 2790 100% Pitt-Hopkins Syndrome TCF7 1493 83% . TCF7L1 1815 86% . TCF7L2 2919 100% . TCFL5 1527 80% . TCHH 5840 100% . TCHHL1 2723 100% . TCHP 1545 94% . TCIRG1 2656 75% TCIRG1-Related Autosomal Recessive Osteopetrosis TCL1A 357 100% . TCL1B 399 100% . TCN1 1338 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 565

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TCN2 1494 100% Transcobalamin II Deficiency TCOF1 4686 97% TCOF1-Related Treacher Collins Syndrome TCOF1 4686 97% Treacher Collins Syndrome TCOF1 4686 97% Choriodal Dystrophy, Central Areolar 2 TCP1 1834 100% . TCP10 1009 87% . TCP10L 664 100% . TCP10L2 1090 94% . TCP11 1645 98% . TCP11L1 1566 100% . TCP11L2 1596 100% . TCTA 324 100% . TCTE1 1522 100% . TCTE3 613 100% . TCTEX1D1 556 100% . TCTEX1D2 449 97% . TCTEX1D4 670 36% . TCTN1 2319 90% Joubert Syndrome and Related Disorders TCTN1 2319 90% TCTN1-Related Joubert Syndrome TCTN2 2366 100% Joubert Syndrome and Related Disorders TCTN2 2366 100% TCTN2-Related Joubert Syndrome TCTN3 1880 99% . TDG 1273 99% . TDGF1 648 100% . TDO2 1269 100% . TDP1 1887 100% Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive TDP2 1117 100% . TDRD1 3670 100% . TDRD10 1335 97% . TDRD12 1240 98% . TDRD3 2452 92% . TDRD5 3401 100% . TDRD6 6307 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 566

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TDRD7 3361 100% Cataract, Autosomal Recessive Congenital 4 TDRD9 4293 96% . TDRKH 2072 100% . TEAD1 1325 100% . TEAD2 1388 100% . TEAD3 1356 100% . TEAD4 1482 100% . TEC 1964 100% . TECPR1 3594 93% . TECPR2 4495 99% . TECR 979 100% . TECRL 1140 100% . TECTA 6560 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant TECTA 6560 99% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TECTA 6560 99% DFNA 8/12 Nonsyndromic Hearing Loss and Deafness TECTA 6560 99% DFNB21 Nonsyndromic Hearing Loss and Deafness TECTB 1030 100% . TEDDM1 826 100% . TEF 999 77% . TEFM 1099 100% . TEK 3467 100% Multiple Cutaneous and Mucosal Venous Malformations TEK 3467 100% Choriodal Dystrophy, Central Areolar 2 TEKT1 1285 100% . TEKT2 1329 99% . TEKT3 1501 100% . TEKT4 1332 95% . TEKT5 1486 100% . TELO2 2594 90% . TEN1 381 89% . TENC1 4631 100% . TEP1 8100 100% . TEPP 1079 93% . TERF1 1360 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 567

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TERF2 1543 98% . TERF2IP 1212 80% . TERT 3463 73% Dyskeratosis Congenita TERT 3463 73% Familial Pulmonary Fibrosis TERT 3463 73% TERT-Related Dyskeratosis Congenita TERT 3463 73% TERT-Related Idiopathic Pulmonary Fibrosis TERT 3463 73% Aplastic Anemia, TERT-Related TERT 3463 73% TERT-Related Familial Pulmonary Fibrosis TES 1294 98% . TESC 677 64% . TESK1 1921 96% . TESK2 1756 100% . TET1 6455 100% . TET2 9636 99% . TET3 5019 99% . TEX10 3264 100% . TEX101 935 99% . TEX11 2980 97% . TEX12 388 100% . TEX13A 2842 100% . TEX13B 947 100% . TEX14 4739 100% . TEX15 8386 100% . TEX19 499 100% . TEX2 3449 100% . TEX22 465 57% . TEX261 615 100% . TEX264 958 100% . TEX28 1249 0% . TEX9 1224 100% . TF 2165 99% Atransferrinemia TFAM 769 89% . TFAP2A 1410 95% Branchiooculofacial Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 568

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TFAP2B 1411 97% Char Syndrome TFAP2B 1411 97% Choriodal Dystrophy, Central Areolar 2 TFAP2C 1381 97% . TFAP2D 1391 100% . TFAP2E 1357 67% . TFAP4 1045 100% . TFB1M 1069 100% . TFB2M 1223 100% . TFCP2 1611 100% . TFCP2L1 1500 95% . TFDP1 1277 100% . TFDP2 2032 94% . TFDP3 1222 100% . TFE3 1768 86% . TFEB 1463 90% . TFEC 1072 100% . TFF1 267 95% . TFF2 406 88% . TFF3 297 100% . TFG 1376 100% . TFIP11 2562 100% . TFPI 1075 100% . TFPI2 728 100% . TFPT 786 100% . TFR2 2623 84% TFR2-Related Hereditary Hemochromatosis TFRC 2355 100% . TG 8499 100% Thyroid Dyshormonogenesis 3 TGDS 1101 100% . TGFA 632 88% . TGFB1 1201 71% Camurati-Engelmann Disease TGFB1 1201 71% Choriodal Dystrophy, Central Areolar 2 TGFB1I1 1550 98% . TGFB2 1361 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 569

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy TGFB3 1267 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 1 TGFBI 2120 93% Avellino Corneal Dystrophy TGFBI 2120 93% Lattice Corneal Dystrophy Type I TGFBI 2120 93% Lattice Corneal Dystrophy Type IIIa TGFBI 2120 93% Corneal Dystrophy of Bowman Layer, Type 1 TGFBI 2120 93% Corneal Dystrophy, Epithelial Basement Membrane TGFBI 2120 93% Choriodal Dystrophy, Central Areolar 2 TGFBR1 1548 93% Thoracic Aortic Aneurysms and Aortic Dissections TGFBR1 1548 93% TGFBR1-Related Loeys-Dietz Syndrome TGFBR1 1548 93% Loeys-Dietz Syndrome TGFBR1 1548 93% Furlong Syndrome TGFBR1 1548 93% TGFBR1-Related Thoracic Aortic Aneurysms and Aortic Dissections TGFBR2 1811 98% Thoracic Aortic Aneurysms and Aortic Dissections TGFBR2 1811 98% TGFBR2-Related Loeys-Dietz Syndrome TGFBR2 1811 98% Loeys-Dietz Syndrome TGFBR2 1811 98% TGFBR2-Related Thoracic Aortic Aneurysms and Aortic Dissections TGFBR2 1811 98% Choriodal Dystrophy, Central Areolar 2 TGFBR3 2962 97% . TGFBRAP1 2627 100% . TGIF1 1531 99% Holoprosencephaly TGIF1 1531 99% TGIF1-Related Holoprosencephaly TGIF1 1531 99% Choriodal Dystrophy, Central Areolar 2 TGIF2 722 100% . TGIF2-C20ORF24 684 100% . TGIF2LX 730 100% . TGIF2LY 562 100% . TGM1 2510 98% Autosomal Recessive Congenital Ichthyosis TGM1 2510 98% TGM1-Related Autosomal Recessive Congenital Ichthyosis TGM1 2510 98% Choriodal Dystrophy, Central Areolar 2 TGM2 2457 94% . TGM3 2134 98% . TGM4 2111 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 570

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TGM5 2215 100% Peeling Skin Syndrome, Acral Type TGM6 2331 100% . TGM7 2185 100% . TGOLN2 3714 100% . TGS1 2614 100% . TH 1749 78% Tyrosine Hydroxylase Deficiency TH 1749 78% Dopa-Responsive Dystonia TH 1749 78% Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia TH 1749 78% Choriodal Dystrophy, Central Areolar 2 TH1L 1833 96% . THADA 6010 100% . THAP1 1033 100% Dystonia 6 THAP10 786 97% . THAP11 949 90% . THAP2 699 100% . THAP3 1034 93% . THAP4 1766 95% . THAP5 1397 100% . THAP6 685 100% . THAP7 946 68% . THAP8 841 58% . THAP9 2732 100% . THBD 1732 62% Atypical Hemolytic-Uremic Syndrome THBD 1732 62% THBD-Related Atypical Hemolytic-Uremic Syndrome THBS1 3597 100% . THBS2 3603 96% . THBS3 2963 100% . THBS4 2974 95% . THEG 1172 100% . THEM4 747 86% . THEM5 768 100% . THEMIS 2234 95% . THG1L 921 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 571

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) THNSL1 2236 100% . THNSL2 1874 96% . THOC1 2058 100% . THOC2 4934 100% . THOC3 1080 88% . THOC5 2128 100% . THOC6 1078 100% . THOC7 647 96% . THOP1 2122 88% . THPO 2422 100% THPO-Related Essential Thrombocythemia THRA 2254 100% . THRAP3 2908 100% . THRB 1418 100% Thyroid Hormone Resistance THRB 1418 100% Choriodal Dystrophy, Central Areolar 2 THRSP 445 100% . THSD1 2575 100% . THSD4 3125 88% . THSD7A 5082 100% . THSD7B 4841 100% . THTPA 1953 100% . THUMPD1 1078 88% . THUMPD2 1552 92% . THUMPD3 1560 100% . THY1 498 100% . THYN1 757 100% . TIA1 1213 100% . TIAF1 352 100% . TIAL1 1381 100% . TIAM1 4876 100% . TIAM2 5386 100% . TICAM1 2143 100% . TICAM2 712 100% . TIE1 3890 90% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 572

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TIFA 559 100% . TIFAB 490 100% . TIGD1 1780 0% . TIGD2 1582 100% . TIGD3 1420 100% . TIGD4 1543 100% . TIGD5 1933 61% . TIGD6 1570 100% . TIGD7 1654 100% . TIGIT 751 100% . TIMD4 1173 100% . TIMELESS 3739 100% . TIMM10 281 100% . TIMM13 300 98% . TIMM17A 540 100% . TIMM17B 697 62% . TIMM21 771 100% . TIMM22 601 99% . TIMM23 658 44% . TIMM44 1411 97% . TIMM50 1415 98% . TIMM8A 321 98% Deafness-Dystonia-Optic Neuronopathy Syndrome TIMM8A 321 98% Choriodal Dystrophy, Central Areolar 2 TIMM8B 305 100% . TIMM9 282 100% . TIMMDC1 886 100% . TIMP1 644 98% . TIMP2 683 80% . TIMP3 656 89% Pseudoinflammatory Fundus Dystrophy TIMP3 656 89% Choriodal Dystrophy, Central Areolar 2 TIMP4 695 100% . TINAG 1475 100% . TINAGL1 1516 89% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 573

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TINF2 1861 100% Dyskeratosis Congenita TINF2 1861 100% TINF2-Related Dyskeratosis Congenita TINF2 1861 100% Revesz Syndrome TIPARP 1994 100% . TIPIN 934 100% . TIPRL 872 100% . TIRAP 1385 100% . TJAP1 1706 100% . TJP1 5359 99% . TJP2 4458 91% . TJP3 2939 96% . TK1 733 99% . TK2 873 90% Mitochondrial DNA Depletion Syndrome, Myopathic Form TK2 873 90% TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form TKT 1928 100% . TKTL1 2087 100% . TKTL2 1885 100% . TLCD1 817 96% . TLCD2 811 55% . TLE1 2393 99% . TLE2 2750 94% . TLE3 2691 97% . TLE4 2402 100% . TLE6 2043 93% . TLK1 2554 100% . TLK2 2337 100% . TLL1 3126 100% . TLL2 3132 100% . TLN1 7850 100% . TLN2 7853 100% . TLR1 2365 100% . TLR10 4880 100% . TLR2 2359 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 574

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TLR3 2731 100% . TLR4 4967 100% . TLR5 2581 100% . TLR6 2395 100% . TLR7 3158 100% . TLR8 3134 100% . TLR9 3107 100% . TLX1 1013 85% . TLX1NB 373 69% . TLX2 867 77% . TLX3 888 91% . TM2D1 648 100% . TM2D2 949 100% . TM2D3 768 100% . TM4SF1 629 100% . TM4SF18 626 100% . TM4SF19 1005 100% . TM4SF20 706 100% . TM4SF4 629 100% . TM4SF5 614 100% . TM6SF1 1153 99% . TM6SF2 1174 92% . TM7SF2 1297 76% . TM7SF3 1761 97% . TM7SF4 1425 100% . TM9SF1 2205 100% . TM9SF2 2060 100% . TM9SF3 1830 94% . TM9SF4 2001 100% . TMBIM1 980 86% . TMBIM4 745 86% . TMBIM6 1018 99% . TMC1 2363 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 575

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMC1 2363 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TMC1 2363 100% DFNB 7/11 Nonsyndromic Hearing Loss and Deafness TMC1 2363 100% DFNA36 Nonsyndromic Hearing Loss and Deafness TMC2 2801 94% . TMC3 3391 100% . TMC4 2435 89% . TMC5 3415 100% . TMC6 2494 81% . TMC7 2389 97% . TMC8 2241 86% . TMCC1 2558 100% . TMCC2 2694 99% . TMCC3 1450 94% . TMCO1 677 100% . TMCO2 557 100% . TMCO3 2082 100% . TMCO4 1957 100% . TMCO5A 907 100% . TMCO6 1530 88% . TMCO7 3357 100% . TMED1 700 86% . TMED10 680 100% . TMED2 622 100% . TMED3 666 100% . TMED4 704 81% . TMED5 982 100% . TMED6 739 100% . TMED7 687 100% . TMED7-TICAM2 1404 100% . TMED8 1002 88% . TMED9 728 87% . TMEFF1 1183 85% . TMEFF2 1165 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 576

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM100 409 100% . TMEM101 790 81% . TMEM102 1535 82% . TMEM104 1527 100% . TMEM105 398 97% . TMEM106A 817 100% . TMEM106B 853 100% . TMEM106C 926 100% . TMEM107 584 100% . TMEM108 1744 100% . TMEM109 744 100% . TMEM11 587 100% . TMEM110 917 83% . TMEM110-MUSTN1 1165 87% . TMEM111 818 100% . TMEM114 379 0% . TMEM115 1064 96% . TMEM116 1163 100% . TMEM117 1573 100% . TMEM119 856 98% . TMEM120A 1080 90% . TMEM120B 1068 100% . TMEM121 964 33% . TMEM123 647 93% . TMEM125 664 99% . TMEM126A 802 100% Optic Atrophy Type 7 TMEM126B 864 96% . TMEM127 729 86% TMEM127-Related Susceptibility to Pheochromocytoma TMEM128 442 100% . TMEM129 1358 32% . TMEM130 1533 94% . TMEM131 5816 97% . TMEM132A 3322 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 577

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM132B 3273 100% . TMEM132C 3363 79% . TMEM132D 3336 98% . TMEM132E 2995 96% . TMEM133 394 100% . TMEM134 710 52% . TMEM135 1437 100% . TMEM136 2710 100% . TMEM138 505 100% Joubert Syndrome and Related Disorders TMEM138 505 100% TMEM138-Related Joubert Syndrome TMEM139 1069 100% . TMEM140 562 100% . TMEM141 347 81% . TMEM143 1412 93% . TMEM144 1082 100% . TMEM145 1542 91% . TMEM146 2485 100% . TMEM147 703 100% . TMEM14A 316 100% . TMEM14B 365 100% . TMEM14C 359 100% . TMEM14E 382 100% . TMEM150A 844 100% . TMEM150B 726 99% . TMEM150C 778 100% . TMEM151A 1415 62% . TMEM151B 1713 28% . TMEM154 580 96% . TMEM155 405 98% . TMEM156 915 100% . TMEM158 907 20% . TMEM159 502 100% . TMEM160 579 21% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 578

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM161A 1488 82% . TMEM161B 1512 100% . TMEM163 902 77% . TMEM164 989 100% . TMEM165 999 84% Congenital Disorders of Glycosylation TMEM165 999 84% TMEM165-CDG (CDG-IIk) TMEM167A 235 100% . TMEM167B 237 96% . TMEM168 2110 100% . TMEM169 902 100% . TMEM17 613 100% . TMEM170A 447 99% . TMEM170B 411 77% . TMEM171 1184 100% . TMEM173 1164 100% . TMEM174 740 100% . TMEM175 1555 100% . TMEM176A 732 99% . TMEM176B 837 100% . TMEM177 940 100% . TMEM178 1052 91% . TMEM179 606 85% . TMEM179B 680 89% . TMEM18 443 97% . TMEM180 1586 100% . TMEM181 1907 87% . TMEM182 710 100% . TMEM183A 1163 92% . TMEM183B 1163 92% . TMEM184A 1274 98% . TMEM184B 1426 97% . TMEM184C 1357 100% . TMEM185A 1081 45% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 579

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM186 650 100% . TMEM187 790 93% . TMEM188 457 93% . TMEM189 933 86% . TMEM189-UBE2V1 1145 89% . TMEM19 1035 100% . TMEM190 554 82% . TMEM192 840 100% . TMEM194A 1595 100% . TMEM194B 1290 92% . TMEM196 535 80% . TMEM198 1099 94% . TMEM199 651 100% . TMEM2 4244 100% . TMEM200A 1480 100% . TMEM200B 928 58% . TMEM200C 1870 54% . TMEM201 2291 90% . TMEM202 842 100% . TMEM203 415 98% . TMEM204 693 100% . TMEM205 582 100% . TMEM206 1272 85% . TMEM207 461 100% . TMEM208 546 100% . TMEM209 1746 100% . TMEM211 398 100% . TMEM212 601 100% . TMEM213 336 96% . TMEM214 2138 93% . TMEM215 712 100% . TMEM216 584 75% Meckel Syndrome TMEM216 584 75% Joubert Syndrome and Related Disorders UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 580

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM216 584 75% TMEM216-Related Meckel Syndrome TMEM216 584 75% TMEM216-Related Joubert Syndrome TMEM217 1315 100% . TMEM218 360 100% . TMEM219 739 100% . TMEM22 1243 100% . TMEM220 507 85% . TMEM221 888 33% . TMEM222 651 86% . TMEM223 617 84% . TMEM225 694 100% . TMEM229A 1147 59% . TMEM229B 508 91% . TMEM231 2025 97% . TMEM232 2026 56% . TMEM233 342 0% . TMEM234 443 100% . TMEM235 1197 16% . TMEM236 2144 4% . TMEM237 1297 97% Joubert Syndrome and Related Disorders TMEM237 1297 97% TMEM237-Related Joubert Syndrome TMEM238 535 0% . TMEM239 463 70% . TMEM240 538 68% . TMEM241 951 100% . TMEM242 442 100% . TMEM25 1260 91% . TMEM26 1131 100% . TMEM27 693 98% . TMEM30A 1114 100% . TMEM30B 1060 76% . TMEM31 589 100% . TMEM33 772 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 581

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM35 512 100% . TMEM37 581 96% . TMEM38A 924 100% . TMEM38B 900 100% . TMEM39A 1499 100% . TMEM39B 1515 98% . TMEM40 746 100% . TMEM41A 815 92% . TMEM41B 1069 96% . TMEM42 492 62% . TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy TMEM43 1251 100% Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 5 TMEM44 1784 67% . TMEM45A 848 100% . TMEM45B 848 99% . TMEM47 558 61% . TMEM48 2276 97% . TMEM5 1356 100% . TMEM50A 498 100% . TMEM50B 501 100% . TMEM51 770 100% . TMEM52 650 72% . TMEM53 846 100% . TMEM54 693 80% . TMEM55A 802 100% . TMEM55B 1050 73% . TMEM56 816 100% . TMEM56-RWDD3 1097 91% . TMEM57 2039 100% . TMEM59 1004 100% . TMEM59L 1061 77% . TMEM60 406 100% . TMEM61 645 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 582

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM62 1988 91% . TMEM63A 2512 97% . TMEM63B 2591 100% . TMEM63C 2509 100% . TMEM64 1155 69% . TMEM65 751 68% . TMEM66 1044 92% . TMEM67 3336 100% Meckel Syndrome TMEM67 3336 100% Joubert Syndrome and Related Disorders TMEM67 3336 100% TMEM67-Related Joubert Syndrome TMEM67 3336 100% TMEM67-Related Meckel Syndrome TMEM67 3336 100% Nephronophthisis11 TMEM68 790 100% . TMEM69 752 100% . TMEM70 921 92% Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 2 TMEM71 1101 100% . TMEM72 848 91% . TMEM74 922 100% . TMEM74B 779 100% . TMEM79 1197 100% . TMEM80 625 69% . TMEM81 772 100% . TMEM82 1056 94% . TMEM85 572 84% . TMEM86A 735 97% . TMEM86B 693 72% . TMEM87A 1794 100% . TMEM87B 1744 98% . TMEM88 488 94% . TMEM88B 500 8% . TMEM89 488 100% . TMEM8A 2368 88% . TMEM8B 2030 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 583

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMEM8C 686 100% . TMEM9 572 100% . TMEM91 1208 100% . TMEM92 500 100% . TMEM93 337 92% . TMEM95 583 99% . TMEM97 543 100% . TMEM98 705 95% . TMEM99 781 100% . TMEM9B 617 92% . TMF1 3350 100% . TMIE 487 80% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TMIE 487 80% DFNB 6 Nonsyndromic Hearing Loss and Deafness TMIGD1 813 100% . TMIGD2 987 95% . TMLHE 1434 79% Epsilon-Trimethyllysine Hydroxylase Deficiency TMOD1 1116 100% . TMOD2 1092 100% . TMOD3 1095 100% . TMOD4 1074 100% . TMPO 2925 99% Dilated Cardiomyopathy TMPO 2925 99% TMPO-Related Dilated Cardiomyopathy TMPPE 2732 100% . TMPRSS11A 1438 100% . TMPRSS11B 1291 100% . TMPRSS11BNL 334 5% . TMPRSS11D 1297 100% . TMPRSS11E 1312 100% . TMPRSS11F 1357 100% . TMPRSS12 1067 100% . TMPRSS13 1933 92% . TMPRSS15 3160 99% . TMPRSS2 1721 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 584

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TMPRSS3 2031 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TMPRSS3 2031 100% DFNB 8/10 Nonsyndromic Hearing Loss and Deafness TMPRSS4 1516 100% . TMPRSS5 1426 98% . TMPRSS6 2508 89% Iron-Refractory Iron Deficiency Anemia TMPRSS7 2214 100% . TMPRSS9 3248 88% . TMSB10 143 100% . TMSB15A 146 100% . TMSB15B 146 100% . TMSB4X 143 100% . TMSB4Y 143 100% . TMTC1 2903 89% . TMTC2 2559 99% . TMTC3 2797 100% . TMTC4 2575 100% . TMUB1 749 79% . TMUB2 1549 97% . TMX1 875 100% . TMX2 923 100% . TMX3 1429 98% . TMX4 1082 83% . TNC 6714 100% . TNF 718 100% . TNFAIP1 975 100% . TNFAIP2 2009 61% . TNFAIP3 2405 100% . TNFAIP6 858 100% . TNFAIP8 610 98% . TNFAIP8L1 565 59% . TNFAIP8L2 559 100% . TNFAIP8L2-SCNM1 666 100% . TNFAIP8L3 891 85% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 585

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TNFRSF10A 1447 93% . TNFRSF10B 1911 100% . TNFRSF10C 800 100% . TNFRSF10D 1197 100% . TNFRSF11A 1891 91% Paget Disease of Bone TNFRSF11A 1891 91% TNFRSF11A- Related Autosomal Recessive Osteopetrosis TNFRSF11B 1226 98% Paget Disease, Juvenile TNFRSF12A 406 94% . TNFRSF13B 902 100% Common Variable Immune Deficiency TNFRSF13C 567 63% Common Variable Immune Deficiency TNFRSF14 884 87% . TNFRSF17 567 100% . TNFRSF18 1588 84% . TNFRSF19 1844 100% . TNFRSF1A 1408 95% Autosomal Dominant Familial Periodic Fever TNFRSF1A 1408 95% Choriodal Dystrophy, Central Areolar 2 TNFRSF1B 1426 89% . TNFRSF21 1992 93% . TNFRSF25 1541 95% . TNFRSF4 862 65% . TNFRSF6B 915 89% . TNFRSF8 2060 91% . TNFRSF9 796 100% . TNFSF10 1368 95% . TNFSF11 974 98% TNFSF11-Related Autosomal Recessive Osteopetrosis TNFSF12 778 72% . TNFSF12-TNFSF13 1037 79% . TNFSF13 1268 100% . TNFSF13B 882 100% . TNFSF14 962 99% . TNFSF15 824 100% . TNFSF18 612 100% . TNFSF4 564 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 586

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TNFSF8 1120 100% . TNFSF9 777 91% . TNIK 4215 100% . TNIP1 2219 100% . TNIP2 1609 84% . TNIP3 1128 100% . TNK1 2203 88% . TNK2 3600 94% . TNKS 4092 100% . TNKS1BP1 5230 98% . TNKS2 3609 95% . TNMD 982 99% . TNN 3972 98% . TNNC1 510 96% Familial Hypertrophic Cardiomyopathy TNNC1 510 96% TNNC1-Related Familial Hypertrophic Cardiomyopathy TNNC1 510 96% TNNC1-Related Dilated Cardiomyopathy TNNC2 507 98% . TNNI1 588 100% . TNNI2 640 99% Arthrogryposis Multiplex Congenita, Distal, Type 2B TNNI2 640 99% TNNI2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B TNNI3 660 85% Familial Hypertrophic Cardiomyopathy TNNI3 660 85% TNNI3-Related Familial Restrictive Cardiomyopathy TNNI3 660 85% TNNI3-Related Dilated Cardiomyopathy TNNI3 660 85% TNNI3-Related Familial Hypertrophic Cardiomyopathy TNNI3 660 85% Familial Restrictive Cardiomyopathy TNNI3 660 85% Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, TNNI3-Related TNNI3K 2608 100% . TNNT1 1032 90% Nemaline Myopathy TNNT1 1032 90% TNNT1-Related Nemaline Myopathy TNNT1 1032 90% Choriodal Dystrophy, Central Areolar 2 TNNT2 1379 98% Familial Hypertrophic Cardiomyopathy TNNT2 1379 98% Dilated Cardiomyopathy TNNT2 1379 98% TNNT2-Related Dilated Cardiomyopathy UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 587

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TNNT2 1379 98% TNNT2-Related Familial Hypertrophic Cardiomyopathy TNNT2 1379 98% Familial Restrictive Cardiomyopathy TNNT2 1379 98% TNNT2-Related Familial Restrictive Cardiomyopathy TNNT2 1379 98% Left Ventricular Noncompaction 6 TNNT2 1379 98% Choriodal Dystrophy, Central Areolar 2 TNNT3 923 96% Arthrogryposis Multiplex Congenita, Distal, Type 2B TNNT3 923 96% TNNT3-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B TNP1 176 100% . TNP2 425 100% . TNPO1 2911 99% . TNPO2 2896 99% . TNPO3 2860 100% . TNR 4161 100% . TNRC18 9023 69% . TNRC6A 5989 100% . TNRC6B 5715 97% . TNRC6C 7665 98% . TNS1 5320 98% . TNS3 4442 100% . TNS4 2196 100% . TNXB 15211 82% Ehlers-Danlos Syndrome, Hypermobility Type TOB1 2084 100% . TOB2 1039 100% . TOE1 1599 100% . TOLLIP 849 87% . TOM1 1678 96% . TOM1L1 1491 100% . TOM1L2 1584 99% . TOMM20 458 100% . TOMM20L 479 100% . TOMM22 445 94% . TOMM34 958 93% . TOMM40 1122 76% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 588

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TOMM40L 963 100% . TOMM5 888 100% . TOMM6 233 99% . TOMM7 180 100% . TOMM70A 1875 92% . TONSL 4241 85% . TOP1 2382 99% . TOP1MT 1862 98% . TOP2A 4736 100% . TOP2B 5010 99% . TOP3A 3082 100% . TOP3B 2657 92% . TOPBP1 4677 100% . TOPORS 3150 100% Retinitis Pigmentosa, Autosomal Dominant TOPORS 3150 100% Retinitis Pigmentosa TOPORS 3150 100% TOPORS-Related Retinitis Pigmentosa TOR1A 1019 93% Early-Onset Primary Dystonia (DYT1) TOR1A 1019 93% Choriodal Dystrophy, Central Areolar 2 TOR1AIP1 1792 98% . TOR1AIP2 1829 100% . TOR1B 1031 100% . TOR2A 2451 89% . TOR3A 1218 91% . TOX 1617 100% . TOX2 1757 94% . TOX3 2097 95% . TOX4 1902 100% . TP53 1782 100% Li-Fraumeni Syndrome TP53 1782 100% Choriodal Dystrophy, Central Areolar 2 TP53AIP1 670 98% . TP53BP1 6455 100% . TP53BP2 3583 100% . TP53I11 594 88% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 589

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TP53I13 1210 84% . TP53I3 1206 100% . TP53INP1 761 100% . TP53INP2 675 97% . TP53RK 770 82% . TP53TG3 1149 0% . TP53TG3B 2247 0% . TP53TG3C 2247 0% . TP53TG5 893 100% . TP63 2565 100% Ectrodactyly TP63 2565 100% Cleft Lip +/- Cleft Palate TP63 2565 100% Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome TP63 2565 100% Split-Hand/Foot Malformation, Type 4 TP63 2565 100% Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate TP63 2565 100% Limb-Mammary Syndrome TP63 2565 100% ADULT Syndrome TP63 2565 100% TP63-Related Disorders TP63 2565 100% Orofacial Cleft 8 TP63 2565 100% Rapp-Hodgkin Syndrome TP73 2688 90% . TPBG 1267 96% . TPCN1 3020 97% . TPCN2 2359 92% . TPD52 799 100% . TPD52L1 896 99% . TPD52L2 1126 98% . TPD52L3 938 100% . TPGS1 881 17% . TPGS2 931 100% . TPH1 1375 100% . TPH2 1517 100% Tryptophan Hydroxylase Deficiency TPI1 1119 97% Triosephosphate Isomerase Deficiency TPI1 1119 97% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 590

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TPK1 764 100% . TPM1 1497 82% Familial Hypertrophic Cardiomyopathy TPM1 1497 82% Dilated Cardiomyopathy TPM1 1497 82% TPM1-Related Dilated Cardiomyopathy TPM1 1497 82% TPM1-Related Familial Hypertrophic Cardiomyopathy TPM1 1497 82% Choriodal Dystrophy, Central Areolar 2 TPM2 1058 96% Arthrogryposis Multiplex Congenita, Distal, Type 1 TPM2 1058 96% Nemaline Myopathy TPM2 1058 96% TPM2-Related Nemaline Myopathy TPM2 1058 96% TPM2-Related Arthrogryposis Multiplex Congenita, Distal, Type 2B TPM2 1058 96% Choriodal Dystrophy, Central Areolar 2 TPM3 1285 100% Nemaline Myopathy TPM3 1285 100% Congenital Fiber-Type Disproportion TPM3 1285 100% TPM3-Related Congenital Fiber-Type Disproportion TPM3 1285 100% TPM3-Related Nemaline Myopathy TPM3 1285 100% Choriodal Dystrophy, Central Areolar 2 TPM4 1027 83% . TPMT 770 100% . TPO 2866 89% Congenital Hypothyroidism, TPO-Related TPO 2866 89% Congenital Hypothyroidism TPP1 1744 100% Neuronal Ceroid-Lipofuscinosis, Juvenile TPP1 1744 100% Neuronal Ceroid-Lipofuscinosis, Classic Late Infantile TPP1 1744 100% Neuronal Ceroid-Lipofuscinoses TPP1 1744 100% TPP1-Related Neuronal Ceroid-Lipofuscinosis TPP2 3866 100% . TPPP 672 100% . TPPP2 525 100% . TPPP3 543 100% . TPR 7296 100% . TPRA1 1434 99% . TPRG1 848 100% . TPRG1L 839 69% . TPRKB 544 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 591

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TPRN 2152 54% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TPRN 2152 54% DFNB79 Nonsyndromic Hearing Loss and Deafness TPRX1 1244 48% . TPSAB1 848 88% . TPSB2 1120 49% . TPSD1 749 98% . TPSG1 990 79% . TPST1 1129 100% . TPST2 1150 98% . TPT1 543 100% . TPTE 1740 100% . TPTE2 1649 100% . TPX2 2308 100% . TRA2A 881 98% . TRA2B 1070 100% . TRABD 1167 90% . TRADD 955 89% . TRAF1 1694 100% . TRAF2 1546 100% . TRAF3 1747 100% . TRAF3IP1 2144 92% . TRAF3IP2 2065 100% . TRAF3IP3 1716 100% . TRAF4 1441 100% . TRAF5 1714 100% . TRAF6 1593 100% . TRAF7 2093 92% . TRAFD1 1793 100% . TRAIP 1470 100% . TRAK1 3809 100% . TRAK2 2805 100% . TRAM1 1169 100% . TRAM1L1 1114 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 592

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TRAM2 1157 100% . TRANK1 8870 100% . TRAP1 2187 95% . TRAPPC1 454 100% . TRAPPC10 3872 98% TRAPPC10-Related Holoprosencephaly TRAPPC11 3911 100% . TRAPPC12 2252 96% . TRAPPC2 661 87% Spondyloepiphyseal Dysplasia Tarda, X-Linked TRAPPC2 661 87% Choriodal Dystrophy, Central Areolar 2 TRAPPC2L 443 87% . TRAPPC3 563 100% . TRAPPC4 680 100% . TRAPPC5 571 85% . TRAPPC6A 546 77% . TRAPPC6B 501 100% . TRAPPC8 4424 100% . TRAPPC9 4431 91% Mental Retardation, Nonsyndromic TRAT1 585 100% . TRDMT1 1220 94% . TRDN 2739 96% Catecholaminergic Polymorphic Ventricular Tachycardia TRDN 2739 96% TRDN-Related Catecholaminergic Polymorphic Ventricular Tachycardia TREH 1811 94% . TREM1 1028 100% . TREM2 713 100% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TREM2 713 100% TREM2-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TREML1 960 100% . TREML2 986 98% . TREML4 623 100% . TRERF1 3659 99% . TREX1 2228 100% Aicardi-Goutieres Syndrome TREX1 2228 100% Retinal Vasculopathy with Cerebral Leukodystrophy TREX1 2228 100% TREX1-Related Aicardi-Goutieres Syndrome TREX2 715 41% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 593

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TRH 737 100% . TRHDE 3151 99% . TRHR 1205 100% . TRIAP1 239 100% . TRIB1 1131 68% . TRIB2 1044 100% . TRIB3 1089 100% . TRIL 4880 66% . TRIM10 2084 100% . TRIM11 1431 84% . TRIM13 2475 100% . TRIM14 1353 97% . TRIM15 1426 94% . TRIM16 1719 97% . TRIM16L 1063 100% . TRIM17 1864 100% . TRIM2 2553 100% . TRIM21 1452 100% . TRIM22 1760 100% . TRIM23 2263 100% . TRIM24 3502 97% . TRIM25 1929 95% . TRIM26 1648 100% . TRIM27 1574 99% . TRIM28 2576 87% . TRIM29 1803 100% . TRIM3 2515 100% . TRIM31 1310 100% . TRIM32 1966 100% Bardet-Biedl Syndrome TRIM32 1966 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive TRIM32 1966 100% Limb-Girdle Muscular Dystrophy Type 2H TRIM32 1966 100% TRIM32-Related Bardet-Biedl Syndrome TRIM33 3464 85% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 594

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TRIM34 1679 100% . TRIM35 1506 93% . TRIM36 2478 100% . TRIM37 3086 100% Mulibrey Nanism TRIM38 1422 100% . TRIM39 1585 100% . TRIM39-RPP21 1946 100% . TRIM4 1531 88% . TRIM40 710 100% . TRIM41 2621 97% . TRIM42 2192 100% . TRIM43 1365 68% . TRIM43B 1365 55% . TRIM44 1055 100% . TRIM45 2505 100% . TRIM46 2320 97% . TRIM47 1941 66% . TRIM48 695 100% . TRIM49 1383 92% . TRIM49L1 2766 7% . TRIM49L2 1383 88% . TRIM5 1929 95% . TRIM50 1488 80% . TRIM52 902 100% . TRIM54 1239 86% . TRIM55 1906 100% . TRIM56 2272 88% . TRIM58 1485 84% . TRIM59 1216 100% . TRIM6 2312 100% . TRIM60 1420 100% . TRIM61 638 83% . TRIM62 1448 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 595

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TRIM63 1098 100% . TRIM64 1374 39% . TRIM64B 1374 100% . TRIM65 1578 61% . TRIM66 3727 98% . TRIM67 2392 90% . TRIM68 1482 100% . TRIM69 1531 93% . TRIM6-TRIM34 2625 100% . TRIM7 2446 82% . TRIM71 2623 87% . TRIM72 1458 63% . TRIM73 769 66% . TRIM74 769 66% . TRIM77P 1377 64% . TRIM8 1680 100% . TRIM9 2416 100% . TRIML1 1431 100% . TRIML2 1192 100% . TRIO 9522 96% . TRIOBP 7484 89% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive TRIOBP 7484 89% DFNB28 Nonsyndromic Hearing Loss and Deafness TRIP10 1694 100% . TRIP11 6024 100% Achondrogenesis Type IA TRIP12 6139 100% . TRIP13 1470 95% . TRIP4 1798 94% . TRIP6 1467 93% . TRIT1 1448 100% . TRMT1 2044 96% . TRMT11 1444 95% . TRMT112 394 98% . TRMT12 1351 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 596

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TRMT1L 2331 100% . TRMT2A 1926 99% . TRMT2B 1563 100% . TRMT5 1550 100% . TRMT6 1538 100% . TRMT61A 882 95% . TRMT61B 1462 100% . TRMU 1310 93% Liver Failure, Acute Infantile TRNAU1AP 900 97% . TRNP1 688 1% . TRNT1 1333 100% . TRO 6901 99% . TROAP 2495 99% . TROVE2 2059 100% . TRPA1 3468 100% . TRPC1 2328 100% . TRPC3 3590 96% . TRPC4 5478 100% . TRPC4AP 2641 95% . TRPC5 2962 100% . TRPC6 2848 97% Focal Segmental Glomerulosclerosis TRPC6 2848 97% Focal Segmental Glomerulosclerosis 2 TRPC7 2637 100% . TRPM1 5137 100% Congenital Stationary Night Blindness, Type 1C TRPM2 4640 95% . TRPM3 5739 100% . TRPM4 3745 91% Progressive Familial Heart Block, Type IB TRPM5 3594 78% . TRPM6 6269 100% Hypomagnesemia with Secondary Hypocalcemia TRPM7 5754 100% . TRPM8 3411 100% . TRPS1 3909 100% Trichorhinophalangeal Syndrome Type I TRPS1 3909 100% Langer-Giedion Syndrome UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 597

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TRPS1 3909 100% Trichorhinophalangeal Syndrome Type III TRPT1 1183 92% . TRPV1 2580 100% . TRPV2 2351 98% . TRPV3 2441 98% . TRPV4 3456 97% Metatropic Dysplasia TRPV4 3456 97% Charcot-Marie-Tooth Neuropathy Type 2 TRPV4 3456 97% Charcot-Marie-Tooth Neuropathy Type 2C TRPV4 3456 97% Brachyolmia Type 3 TRPV4 3456 97% Spondylometaphyseal Dysplasia, Kozlowski Type TRPV4 3456 97% Scapuloperoneal Spinal Muscular Atrophy TRPV4 3456 97% Distal Congenital Nonprogressive Spinal Muscular Atrophy TRPV4 3456 97% Brachyolmia Type 2 TRPV5 2250 100% . TRPV6 2238 100% . TRRAP 11973 100% . TRUB1 1082 97% . TRUB2 1028 100% . TSC1 3705 100% Tuberous Sclerosis Complex TSC1 3705 100% Tuberous Sclerosis 1 TSC1 3705 100% Choriodal Dystrophy, Central Areolar 2 TSC2 5757 93% Tuberous Sclerosis Complex TSC2 5757 93% Tuberous Sclerosis 2 TSC2 5757 93% Choriodal Dystrophy, Central Areolar 2 TSC22D1 6335 98% . TSC22D2 2359 95% . TSC22D3 797 99% . TSC22D4 1204 86% . TSEN15 593 79% . TSEN2 2690 100% Pontocerebellar Hypoplasia Type 2 and Type 4 TSEN2 2690 100% TSEN2-Related Pontocerebellar Hypoplasia TSEN34 949 91% Pontocerebellar Hypoplasia Type 2 and Type 4 TSEN34 949 91% TSEN34-Related Pontocerebellar Hypoplasia UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 598

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TSEN54 1625 79% Pontocerebellar Hypoplasia Type 2 and Type 4 TSEN54 1625 79% TSEN54-Related Pontocerebellar Hypoplasia TSFM 1561 91% Combined Oxidative Phosphorylation Deficiency TSFM 1561 91% Combined Oxidative Phosphorylation Deficiency 3 TSG101 1213 100% . TSGA10 2161 100% . TSGA10IP 1703 100% . TSGA13 856 100% . TSHB 425 100% Congenital Hypothyroidism, Nongoitrous 4 TSHR 2609 100% Hyperthyroidism, Nonautoimmune TSHR 2609 100% Hyperthyroidism, Nonautoimmune (316270) TSHR 2609 100% Congenital Hypothyroidism, Nongoitrous 1 TSHR 2609 100% Congenital Hypothyroidism TSHR 2609 100% Choriodal Dystrophy, Central Areolar 2 TSHZ1 3103 100% Congenital Aural Atresia TSHZ2 3148 97% . TSHZ3 3254 99% . TSKS 1823 99% . TSKU 1066 95% . TSLP 635 100% . TSN 711 100% . TSNARE1 1590 96% . TSNAX 897 100% . TSNAXIP1 2033 100% . TSPAN1 754 100% . TSPAN10 1080 88% . TSPAN11 790 99% . TSPAN12 946 100% Familial Exudative Vitreoretinopathy, Autosomal Dominant TSPAN12 946 100% TSPAN12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant TSPAN13 639 100% . TSPAN14 845 91% . TSPAN15 917 88% . TSPAN16 766 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 599

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TSPAN17 1347 99% . TSPAN18 775 100% . TSPAN19 779 94% . TSPAN2 698 90% . TSPAN3 790 91% . TSPAN31 657 98% . TSPAN32 1003 96% . TSPAN33 884 91% . TSPAN4 941 97% . TSPAN5 839 100% . TSPAN6 766 100% . TSPAN7 778 97% X-Linked Mental Retardation 58 TSPAN8 746 100% . TSPAN9 748 82% . TSPEAR 2058 96% . TSPO 1018 51% . TSPO2 525 100% . TSPY1 1059 96% . TSPY2 951 67% . TSPY3 1902 23% . TSPY4 4072 15% . TSPY8 241 65% . TSPYL1 1318 100% . TSPYL2 2110 86% . TSPYL4 1249 100% . TSPYL5 1258 95% . TSPYL6 1237 100% . TSR1 2475 100% . TSR2 596 82% . TSSC1 1200 95% . TSSC4 994 92% . TSSK1B 1108 100% . TSSK2 1081 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 600

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TSSK3 815 100% . TSSK4 1431 100% . TSSK6 826 100% . TST 902 90% . TSTA3 1006 94% . TSTD1 599 89% . TSTD2 1587 100% . TTBK1 4022 77% . TTBK2 3791 100% Spinocerebellar Ataxia Type11 TTC1 907 100% . TTC12 2202 100% . TTC13 2789 90% . TTC14 2543 100% . TTC16 2678 99% . TTC17 3522 99% . TTC18 3474 98% . TTC19 1546 68% Mitochondrial Respiratory Chain Complex III Deficiency, TTC19-Related TTC21A 4357 100% . TTC21B 4067 100% Joubert Syndrome and Related Disorders TTC21B 4067 100% Asphyxiating Thoracic Dystrophy TTC21B 4067 100% Asphyxiating Thoracic Dystrophy 4 TTC21B 4067 100% TTC21B-Related Joubert Syndrome TTC22 1841 63% . TTC23 1384 100% . TTC23L 1122 100% . TTC24 1789 81% . TTC25 1871 100% . TTC26 1853 100% . TTC27 2794 97% . TTC28 7538 89% . TTC29 1472 100% . TTC3 6258 100% . TTC30A 2002 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 601

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TTC30B 2002 100% . TTC31 1612 96% . TTC32 468 100% . TTC33 805 100% . TTC35 938 100% . TTC36 582 55% . TTC37 4855 100% . TTC38 1466 98% . TTC39A 1866 94% . TTC39B 2460 96% . TTC39C 1861 91% . TTC4 1204 100% . TTC40 1254 96% . TTC5 1363 100% . TTC7A 2657 93% . TTC7B 2612 100% . TTC8 1608 100% Retinitis Pigmentosa, Autosomal Recessive TTC8 1608 100% Bardet-Biedl Syndrome TTC8 1608 100% Retinitis Pigmentosa TTC8 1608 100% TTC8-Related Bardet-Biedl Syndrome TTC8 1608 100% TTC8-Related Retinitis Pigmentosa TTC9 681 63% . TTC9B 732 85% . TTC9C 528 100% . TTF1 2986 100% . TTF2 3581 100% . TTI1 3298 100% . TTI2 1555 100% . TTK 2799 100% . TTL 1162 100% . TTLL1 1308 100% . TTLL10 2596 69% . TTLL11 3175 75% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 602

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TTLL12 1991 86% . TTLL13 1416 100% . TTLL2 1791 98% . TTLL3 2800 85% . TTLL4 3672 100% . TTLL5 3970 100% . TTLL6 2817 100% . TTLL7 2744 100% . TTLL9 1376 100% . TTN 111719 100% Familial Hypertrophic Cardiomyopathy TTN 111719 100% Dilated Cardiomyopathy TTN 111719 100% Limb-Girdle Muscular Dystrophies, Autosomal Recessive TTN 111719 100% Udd Distal Myopathy TTN 111719 100% TTN-Related Familial Hypertrophic Cardiomyopathy TTN 111719 100% TTN-Related Dilated Cardiomyopathy TTN 111719 100% Limb-Girdle Muscular Dystrophy Type 2J TTN 111719 100% Salih Myopathy TTN 111719 100% Hereditary Myopathy with Early Respiratory Failure TTN 111719 100% Salih Myopathy (319528) TTN 111719 100% Choriodal Dystrophy, Central Areolar 2 TTPA 857 81% Ataxia with Vitamin E Deficiency TTPAL 1045 100% . TTR 460 100% Familial Transthyretin Amyloidosis TTR 460 100% Choriodal Dystrophy, Central Areolar 2 TTYH1 1655 81% . TTYH2 1758 100% . TTYH3 1628 60% . TUB 1780 97% . TUBA1A 1372 100% Lissencephaly 3 TUBA1B 1372 100% . TUBA1C 1366 100% . TUBA3C 1373 100% . TUBA3D 1373 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 603

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TUBA3E 1373 100% . TUBA4A 1363 99% . TUBA8 1597 100% Polymicrogyria with Optic Nerve Hypoplasia TUBAL3 1605 100% . TUBB 1351 100% . TUBB1 1372 100% . TUBB2A 1354 90% . TUBB2B 1354 91% Polymicrogyria, Asymmetric TUBB3 1484 100% Congenital Fibrosis of the Extraocular Muscles TUBB3 1484 100% TUBB3-Related Congenital Fibrosis of the Extraocular Muscles TUBB3 1484 100% Cortical Dysplasia, Complex, with Other Brain Malformations TUBB4A 1351 100% . TUBB4B 1354 100% . TUBB6 1357 100% . TUBB8 1351 100% . TUBD1 2022 100% . TUBE1 1476 93% . TUBG1 1400 96% . TUBG2 1400 96% . TUBGCP2 2777 96% . TUBGCP3 2812 100% . TUBGCP4 2073 100% . TUBGCP5 3366 99% . TUBGCP6 5560 96% . TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4 (319007) TUFM 1408 98% Combined Oxidative Phosphorylation Deficiency 4 TUFT1 1225 91% . TULP1 1689 85% Retinitis Pigmentosa, Autosomal Recessive TULP1 1689 85% Leber Congenital Amaurosis TULP1 1689 85% Retinitis Pigmentosa TULP1 1689 85% TULP1-Related Retinitis Pigmentosa TULP1 1689 85% TULP1-Related Leber Congenital Amaurosis UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 604

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TULP2 1611 100% . TULP3 1712 86% . TULP4 4809 99% . TUSC1 643 44% . TUSC2 345 58% . TUSC3 1107 100% Congenital Disorders of Glycosylation TUSC3 1107 100% TUSC3-CDG TUSC5 546 100% . TUT1 2775 100% . TWF1 1191 89% . TWF2 1086 98% . TWIST1 613 63% Saethre-Chotzen Syndrome TWIST1 613 63% TWIST1-Related Craniosynostosis TWIST1 613 63% Choriodal Dystrophy, Central Areolar 2 TWIST2 487 35% . TWISTNB 1033 100% . TWSG1 688 100% . TXK 1644 100% . TXLNA 1681 96% . TXLNB 2091 100% . TXLNG 1627 93% . TXN 338 98% . TXN2 513 100% . TXNDC11 2925 94% . TXNDC12 547 100% . TXNDC15 1103 100% . TXNDC16 2680 100% . TXNDC17 388 100% . TXNDC2 3227 100% . TXNDC3 1827 100% . TXNDC5 1493 84% . TXNDC8 372 100% . TXNDC9 697 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 605

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) TXNIP 1208 100% . TXNL1 902 100% . TXNL4A 441 98% . TXNL4B 462 100% . TXNRD1 2159 94% . TXNRD2 1643 86% . TXNRD3 1996 90% . TXNRD3NB 410 100% . TYK2 3656 94% Familial Atypical Mycobacteriosis, TYK2-Related TYMP 1485 67% Mitochondrial Neurogastrointestinal Encephalopathy Disease TYMS 1270 74% . TYR 1610 100% Oculocutaneous Albinism Type 1 TYR 1610 100% Choriodal Dystrophy, Central Areolar 2 TYRO3 2749 93% . TYROBP 413 98% Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TYROBP 413 98% TYROBP-Related Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy TYROBP 413 98% Choriodal Dystrophy, Central Areolar 2 TYRP1 1642 100% Oculocutaneous Albinism Type 3 TYRP1 1642 100% Choriodal Dystrophy, Central Areolar 2 TYSND1 1939 63% . TYW1 2263 100% . TYW1B 2308 95% . TYW3 804 100% . TYW5 980 100% . U2AF1 880 100% . U2AF1L4 1039 100% . U2AF2 1579 99% . U2SURP 3202 100% . UACA 4370 98% . UAP1 1554 100% . UAP1L1 1560 73% . UBA1 3277 96% Spinal Muscular Atrophy, X-Linked Infantile UBA2 1991 95% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 606

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UBA3 1464 98% . UBA5 1313 88% . UBA52 403 100% . UBA6 3291 100% . UBA7 3135 97% . UBAC1 1258 99% . UBAC2 1231 100% . UBAP1 1815 87% . UBAP1L 1166 0% . UBAP2 3472 100% . UBAP2L 3422 100% . UBASH3A 2188 95% . UBASH3B 2006 98% . UBB 694 100% . UBC 2062 100% . UBD 506 100% . UBE2A 577 96% Mental Retardation, X-Linked, Syndromic, Nascimento Type UBE2B 483 84% . UBE2C 1171 91% . UBE2CBP 1210 100% . UBE2D1 540 95% . UBE2D2 540 100% . UBE2D3 559 100% . UBE2D4 472 100% . UBE2E1 602 100% . UBE2E2 626 100% . UBE2E3 644 100% . UBE2F 594 100% . UBE2G1 533 100% . UBE2G2 695 94% . UBE2H 624 100% . UBE2I 501 100% . UBE2J1 989 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 607

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UBE2J2 901 94% . UBE2K 631 99% . UBE2L3 5405 10% . UBE2L6 669 98% . UBE2M 576 99% . UBE2N 475 100% . UBE2NL 466 100% . UBE2O 3951 92% . UBE2Q1 1321 81% . UBE2Q2 1316 92% . UBE2QL1 494 100% . UBE2R2 737 100% . UBE2S 685 99% . UBE2T 618 100% . UBE2U 717 100% . UBE2V1 650 98% . UBE2V2 454 100% . UBE2W 517 96% . UBE2Z 1093 71% . UBE3A 2742 100% Angelman Syndrome UBE3A 2742 100% Choriodal Dystrophy, Central Areolar 2 UBE3B 3311 100% . UBE3C 3344 100% . UBE4A 3483 100% . UBE4B 4021 100% . UBFD1 958 96% . UBIAD1 1025 100% Schnyder Crystalline Corneal Dystrophy UBL3 374 100% . UBL4A 490 68% . UBL4B 529 100% . UBL5 238 100% . UBL7 1183 93% . UBLCP1 997 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 608

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UBN1 3473 100% . UBN2 4116 92% . UBOX5 1642 100% . UBP1 1687 99% . UBQLN1 1814 97% . UBQLN2 1879 94% Amyotrophic Lateral Sclerosis UBQLN2 1879 94% UBQLN2-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia UBQLN3 1972 100% . UBQLN4 1850 95% . UBQLNL 1432 100% . UBR1 5438 100% . UBR2 5602 99% . UBR3 5823 95% . UBR4 15976 100% . UBR5 8636 99% . UBR7 1322 86% . UBTD1 696 89% . UBTD2 717 90% . UBTF 2375 99% . UBTFL1 1186 97% . UBXN1 971 99% . UBXN10 847 100% . UBXN11 1619 96% . UBXN2A 804 100% . UBXN2B 1028 91% . UBXN4 1579 100% . UBXN6 1538 97% . UBXN7 1514 100% . UBXN8 844 100% . UCHL1 708 85% Parkinson Disease UCHL3 729 100% . UCHL5 1208 100% . UCK1 1048 89% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 609

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UCK2 814 92% . UCKL1 1779 87% . UCMA 437 100% . UCN 379 52% . UCN2 343 68% . UCN3 490 100% . UCP1 948 99% . UCP2 954 100% . UCP3 1156 100% . UEVLD 1636 100% . UFC1 528 100% . UFD1L 1137 100% . UFL1 2461 100% . UFM1 282 100% . UFSP1 433 100% . UFSP2 1458 100% . UGCG 1221 92% . UGDH 1734 100% . UGGT1 4832 99% . UGGT2 4707 98% . UGP2 1699 100% . UGT1A1 1622 100% Gilbert Syndrome UGT1A1 1622 100% Crigler-Najjar Syndrome UGT1A1 1622 100% Transient Familial Neonatal Hyperbilirubinemia UGT1A10 1613 100% . UGT1A3 1625 100% . UGT1A4 1625 100% . UGT1A5 1625 100% . UGT1A6 2484 100% . UGT1A7 1613 100% . UGT1A8 1613 100% . UGT1A9 1613 100% . UGT2A1 2330 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 610

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UGT2A2 1611 100% . UGT2A3 1608 100% . UGT2B10 4598 100% . UGT2B11 1614 100% . UGT2B15 1617 100% . UGT2B17 1617 88% . UGT2B28 1898 100% . UGT2B4 1611 100% . UGT2B7 1614 100% . UGT3A1 1788 100% . UGT3A2 1600 100% . UGT8 1646 100% . UHMK1 1493 97% . UHRF1 2680 99% . UHRF1BP1 4407 99% . UHRF1BP1L 4503 100% . UHRF2 2473 100% . UIMC1 2216 100% . ULBP1 751 100% . ULBP2 757 100% . ULBP3 751 100% . ULK1 3265 94% . ULK2 3219 100% . ULK3 1483 71% . ULK4 3972 100% . UMOD 1963 87% Familial Juvenile Hyperuricemic Nephropathy Type 1 UMOD 1963 87% UMOD-Associated Kidney Disease UMODL1 6342 96% . UMPS 1467 100% Orotic Aciduria UMPS 1467 100% Choriodal Dystrophy, Central Areolar 2 UNC119 1026 90% UNC119-Related Cone-Rod Dystrophy UNC119B 776 68% . UNC13A 5280 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 611

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UNC13B 4932 99% . UNC13C 6769 100% . UNC13D 3401 86% Familial Hemophagocytic Lymphohistiocytosis UNC13D 3401 86% Familial Hemophagocytic Lymphohistiocytosis 3 UNC45A 2970 96% . UNC45B 3024 100% . UNC50 800 100% . UNC5A 2589 97% . UNC5B 2906 97% . UNC5C 2860 100% . UNC5CL 1589 100% . UNC5D 2930 96% . UNC79 7565 100% . UNC80 10184 98% . UNC93A 1406 100% . UNC93B1 1837 77% . UNCX 1608 31% . UNG 1391 93% Immunodeficiency with Hyper-IgM, Type 5 UNK 2650 99% . UNKL 2851 56% . UPB1 1195 100% Beta-Ureidopropionase Deficiency UPF1 3449 99% . UPF2 3903 100% . UPF3A 1471 81% . UPF3B 1496 99% Mental Retardation, X-linked, Syndromic 14 UPK1A 805 99% . UPK1B 811 100% . UPK2 575 100% . UPK3A 888 94% UPK3A-Related Renal Adysplasia UPK3B 2082 83% . UPK3BL 816 10% . UPP1 961 100% . UPP2 1251 93% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 612

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UPRT 958 99% . UQCC 940 100% . UQCR10 432 100% . UQCR11 179 80% . UQCRB 605 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRB-Related UQCRC1 1495 95% . UQCRC2 1418 100% . UQCRFS1 833 74% . UQCRH 292 100% . UQCRHL 280 100% . UQCRQ 257 100% Mitochondrial Respiratory Chain Complex III Deficiency, UQCRQ Related URB1 6972 83% . URB2 4611 100% . URGCP 2875 99% . URGCP-MRPS24 380 76% . URI1 1652 95% . URM1 787 100% . UROC1 2394 95% . UROD 1144 100% Porphyria Cutanea Tarda UROD 1144 100% Choriodal Dystrophy, Central Areolar 2 UROS 834 100% Congenital Erythropoietic Porphyria UROS 834 100% Choriodal Dystrophy, Central Areolar 2 USE1 812 91% . USF1 1079 100% . USF2 1081 66% . USH1C 2935 97% Usher Syndrome Type 1 USH1C 2935 97% Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive USH1C 2935 97% Usher Syndrome Type 1C USH1C 2935 97% DFNB18 Nonsyndromic Hearing Loss and Deafness USH1G 1398 88% Usher Syndrome Type 1 USH1G 1398 88% Usher Syndrome Type 1G USH2A 16156 100% Retinitis Pigmentosa, Autosomal Recessive USH2A 16156 100% Usher Syndrome Type 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 613

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) USH2A 16156 100% Retinitis Pigmentosa USH2A 16156 100% Usher Syndrome Type 2A USH2A 16156 100% USH2A-Related Retinitis Pigmentosa USHBP1 2160 95% . USMG5 185 100% . USO1 2826 100% . USP1 2390 100% . USP10 2453 99% . USP11 2976 97% . USP12 1149 99% . USP13 2676 95% . USP14 1549 100% . USP15 2943 97% . USP16 2732 100% . USP17 14373 19% . USP17L2 1597 94% . USP17L5 6388 3% . USP18 1159 96% . USP19 4854 98% . USP2 2017 88% . USP20 2837 94% . USP21 1746 100% . USP22 1630 97% . USP24 8135 98% . USP25 3264 98% . USP26 2746 100% . USP27X 1321 100% . USP28 3334 98% . USP29 2773 100% . USP3 1623 100% . USP30 1606 99% . USP31 4123 90% . USP32 4951 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 614

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) USP33 3297 99% . USP34 10961 100% . USP35 3097 85% . USP36 3444 100% . USP37 3032 100% . USP38 3169 100% . USP39 1750 94% . USP4 2980 100% . USP40 3868 93% . USP42 4015 97% . USP43 3432 86% . USP44 2159 100% . USP45 2513 100% . USP46 1156 97% . USP47 3972 99% . USP48 3386 96% . USP49 1939 100% . USP5 2853 100% . USP50 1033 100% . USP51 2140 92% . USP53 3282 100% . USP54 5143 100% . USP6 4337 100% . USP6NL 2602 100% . USP7 3433 98% . USP8 3433 100% . USP9X 8154 100% . USP9Y 7844 100% Y Chromosome Infertility USP9Y 7844 100% Choriodal Dystrophy, Central Areolar 2 USPL1 3311 100% . UST 1253 93% . UTF1 1034 18% . UTP11L 794 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 615

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) UTP14A 2376 100% . UTP14C 2305 100% . UTP15 1605 100% . UTP18 1723 95% . UTP20 8606 99% . UTP23 762 100% . UTP3 1444 100% . UTP6 1870 100% . UTRN 10598 100% . UTS2 627 100% . UTS2D 380 100% . UTS2R 1174 86% . UTY 4569 94% . UVRAG 2160 91% . UXS1 1485 93% . UXT 672 97% . VAC14 2425 98% . VAMP1 476 99% . VAMP2 371 98% . VAMP3 323 100% . VAMP4 509 100% . VAMP5 363 98% . VAMP7 2580 50% . VAMP8 315 98% . VANGL1 1740 100% Caudal Dysgenesis Syndrome VANGL1 1740 100% VANGL1-Related Neural Tube Defect VANGL2 1594 100% . VAPA 913 100% . VAPB 919 100% Amyotrophic Lateral Sclerosis VAPB 919 100% VAPB-Related Amyotrophic Lateral Sclerosis VAPB 919 100% Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant VARS 3911 100% . VARS2 3765 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 616

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) VASH1 1126 71% . VASH2 1469 75% . VASN 2026 84% . VASP 1195 79% . VAT1 1206 87% . VAT1L 1296 83% . VAV1 2646 89% . VAV2 2757 99% . VAV3 2732 100% . VAX1 1157 75% Anophthalmia/Microphthalmia VAX2 885 72% . VBP1 618 84% . VCAM1 2536 100% . VCAN 10247 100% VCAN-Related Vitreoretinopathy VCAN 10247 100% Wagner Syndrome VCAN 10247 100% Erosive Vitreoretinopathy VCL 3493 98% Dilated Cardiomyopathy VCL 3493 98% VCL-Related Dilated Cardiomyopathy VCL 3493 98% Choriodal Dystrophy, Central Areolar 2 VCP 2489 99% Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia VCP 2489 99% Amyotrophic Lateral Sclerosis VCP 2489 99% VCP-Related Amyotrophic Lateral Sclerosis VCPIP1 3681 100% . VCX 629 99% . VCX2 428 86% . VCX3A 569 93% . VCX3B 749 96% . VCY 772 0% . VCY1B 772 0% . VDAC1 884 100% . VDAC2 1001 100% . VDAC3 944 100% . VDR 1466 100% Osteoporosis UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 617

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) VDR 1466 100% Vitamin D-Dependent Rickets Type II VDR 1466 100% Choriodal Dystrophy, Central Areolar 2 VEGFA 2323 71% . VEGFB 866 89% . VEGFC 1291 99% . VENTX 789 92% . VEPH1 2968 100% . VEZF1 1590 98% . VEZT 2388 100% . VGF 1852 80% . VGLL1 793 100% . VGLL2 970 67% . VGLL3 997 100% . VGLL4 1003 84% . VHL 654 78% Von Hippel-Lindau Disease VHL 654 78% Familial Erythrocytosis 2 VHL 654 78% VHL-Related Pheochromocytoma VHL 654 78% Choriodal Dystrophy, Central Areolar 2 VHLL 424 100% . VIL1 2560 99% . VILL 2647 99% . VIM 1437 98% . VIP 669 100% . VIPR1 2187 70% . VIPR2 1369 84% . VIT 2474 100% . VKORC1 717 100% Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 VKORC1L1 543 98% . VLDLR 2698 97% VLDLR-Associated Cerebellar Hypoplasia VMA21 318 82% . VMAC 518 52% . VMO1 1265 100% . VMP1 1265 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 618

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) VN1R1 1066 100% . VN1R2 1192 86% . VN1R4 910 100% . VN1R5 1078 100% . VNN1 1570 100% . VNN2 1808 100% . VOPP1 539 92% . VPRBP 4531 100% . VPREB1 446 100% . VPREB3 380 98% . VPS11 2889 100% . VPS13A 9941 100% Chorea-acanthocytosis VPS13A 9941 100% Choriodal Dystrophy, Central Areolar 2 VPS13B 12822 99% Cohen Syndrome VPS13C 11630 100% . VPS13D 13443 100% . VPS16 2616 97% . VPS18 2942 97% . VPS25 555 100% . VPS26A 1138 99% . VPS26B 1035 100% . VPS28 1480 93% . VPS29 581 100% . VPS33A 1843 100% . VPS33B 1946 97% Arthrogryposis, Renal Dysfunction, and Cholestasis 1 VPS35 2459 100% . VPS36 1217 100% . VPS37A 1238 92% . VPS37B 874 97% . VPS37C 1084 60% . VPS37D 772 41% . VPS39 2728 98% . VPS41 2681 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 619

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) VPS45 1773 100% . VPS4A 1358 98% . VPS4B 1379 100% . VPS52 2252 100% . VPS53 2691 100% . VPS54 3268 100% . VPS72 1119 100% . VPS8 4665 100% . VRK1 1239 100% Pontocerebellar Hypoplasia Type 1A VRK2 1728 99% . VRK3 1473 100% . VRTN 2113 100% . VSIG1 1304 100% . VSIG10 1659 97% . VSIG10L 2644 34% . VSIG2 1012 100% . VSIG4 1266 99% . VSIG8 1273 80% . VSNL1 588 100% . VSTM1 747 100% . VSTM2A 731 100% . VSTM2B 878 57% . VSTM2L 631 67% . VSTM4 1118 95% . VSTM5 619 85% . VSX1 1432 59% Keratoconus 1 VSX1 1432 59% Posterior Polymorphous Corneal Dystrophy 1 VSX2 1106 57% Anophthalmia/Microphthalmia VSX2 1106 57% VSX2-Related Isolated Microphthalmia VSX2 1106 57% Choriodal Dystrophy, Central Areolar 2 VTA1 956 100% . VTCN1 1221 100% . VTI1A 686 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 620

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) VTI1B 723 100% . VTN 1469 97% . VWA1 1912 72% . VWA2 2222 100% . VWA3A 3687 100% . VWA3B 3993 100% . VWA5A 2521 100% . VWA5B1 3732 94% . VWA5B2 3805 75% . VWA7 2740 88% . VWC2 990 46% . VWC2L 681 100% . VWCE 2948 92% . VWDE 4889 99% . VWF 8646 96% von Willebrand Disease VWF 8646 96% Choriodal Dystrophy, Central Areolar 2 WAC 2000 100% . WAPAL 3645 100% . WARS 1674 100% . WARS2 1618 100% . WAS 1557 81% Wiskott-Aldrich Syndrome WAS 1557 81% WAS-Related Disorders WAS 1557 81% Choriodal Dystrophy, Central Areolar 2 WASF1 1712 100% . WASF2 1691 100% . WASF3 1541 100% . WASH1 1438 43% . WASL 1562 98% . WBP1 826 97% . WBP11 1970 100% . WBP2 818 85% . WBP2NL 954 100% . WBP4 1171 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 621

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) WBP5 319 100% . WBSCR16 1439 42% . WBSCR17 1841 99% . WBSCR22 894 100% . WBSCR27 758 95% . WBSCR28 810 100% . WDFY1 1281 100% . WDFY2 1251 100% . WDFY3 10841 100% . WDFY4 9799 95% . WDHD1 3606 100% . WDPCP 2313 99% Bardet-Biedl Syndrome WDPCP 2313 99% WDPCP-Related Bardet-Biedl Syndrome WDR1 1881 99% . WDR11 3791 100% . WDR12 1324 100% . WDR13 1739 97% . WDR16 2060 100% . WDR17 4362 100% . WDR18 1339 72% . WDR19 4173 100% Asphyxiating Thoracic Dystrophy WDR19 4173 100% Cranioectodermal Dysplasia 4 WDR19 4173 100% Cranioectodermal Dysplasia WDR19 4173 100% Asphyxiating Thoracic Dystrophy 5 WDR20 3332 100% . WDR24 2409 90% . WDR25 1659 100% . WDR26 2151 97% . WDR27 2725 97% . WDR3 2936 100% . WDR31 1277 100% . WDR33 5015 100% . WDR34 1647 91% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 622

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) WDR35 3658 100% Short Rib-Polydactyly Syndrome, Type V WDR35 3658 100% Cranioectodermal Dysplasia 2 WDR35 3658 100% Cranioectodermal Dysplasia WDR36 2948 100% Primary Open Angle Glaucoma (Adult Onset) WDR37 1537 100% . WDR38 981 93% . WDR4 1283 82% . WDR41 1432 100% . WDR43 2106 100% . WDR44 2954 100% . WDR45 1239 98% . WDR45L 1075 100% . WDR46 2107 100% . WDR47 3081 100% . WDR48 2110 100% . WDR49 2150 100% . WDR5 1057 100% . WDR52 5898 100% . WDR53 1085 100% . WDR54 1041 100% . WDR55 1180 100% . WDR59 3029 99% . WDR5B 997 100% . WDR6 3480 100% . WDR60 3301 95% . WDR61 958 100% . WDR62 4819 96% Primary Autosomal Recessive Microcephaly Type 2 WDR62 4819 96% Primary Autosomal Recessive Microcephaly WDR62 4819 96% Microcephaly, Cortical Malformations, and Mental Retardation WDR63 2764 100% . WDR64 3354 100% . WDR65 4355 100% . WDR66 3593 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 623

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) WDR67 3289 98% . WDR69 1300 100% . WDR7 4581 100% . WDR70 2037 100% . WDR72 3385 100% Amelogenesis Imperfecta, Hypomaturation Type, IIA3 WDR73 1169 100% . WDR74 1202 100% . WDR75 2577 97% . WDR76 2339 100% . WDR77 1069 89% . WDR78 2820 100% . WDR81 9711 84% . WDR82 978 100% . WDR83 984 99% . WDR83OS 337 100% . WDR85 1395 88% . WDR86 1155 66% . WDR87 8642 100% . WDR88 1463 100% . WDR89 1168 100% . WDR90 5411 85% . WDR91 2304 100% . WDR92 1106 100% . WDR93 2125 100% . WDR96 5150 100% . WDSUB1 1471 100% . WDTC1 2091 100% . WDYHV1 642 86% . WEE1 2195 77% . WEE2 1752 100% . WFDC1 687 71% . WFDC10A 248 100% . WFDC10B 463 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 624

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) WFDC11 276 100% . WFDC12 348 100% . WFDC13 294 100% . WFDC2 387 83% . WFDC3 720 100% . WFDC5 388 98% . WFDC6 273 100% . WFDC8 750 100% . WFDC9 282 100% . WFIKKN1 1655 88% . WFIKKN2 1739 99% . WFS1 2701 88% WFS1-Related Disorders WFS1 2701 88% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant WFS1 2701 88% DFNA 6/14/38 Nonsyndromic Hearing Loss and Deafness WFS1 2701 88% Wolfram Syndrome-Like Disease WFS1 2701 88% DFNA6/14/38 Nonsyndromic Low Frequency Sensorineural Hearing Loss WFS1 2701 88% Wolfram Syndrome WFS1 2701 88% Choriodal Dystrophy, Central Areolar 2 WHAMM 2470 85% . WHSC1 4396 100% . WHSC1L1 4493 100% . WHSC2 1664 81% . WIBG 665 88% . WIF1 1180 88% . WIPF1 1540 100% . WIPF2 1351 100% . WIPF3 1480 78% . WIPI1 1393 94% . WIPI2 1794 96% . WISP1 1428 100% . WISP2 769 81% . WISP3 1245 100% Progressive Pseudorheumatoid Arthropathy of Childhood WISP3 1245 100% Choriodal Dystrophy, Central Areolar 2 UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 625

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) WIZ 2413 94% . WLS 2077 100% . WNK1 8982 97% Hereditary Sensory and Autonomic Neuropathy Type IIA WNK1 8982 97% Hereditary Sensory and Autonomic Neuropathy Type II WNK1 8982 97% Pseudohypoaldosteronism Type IIC WNK1 8982 97% Pseudohypoaldosteronism Type II WNK2 6770 90% . WNK3 5731 99% . WNK4 3808 97% Pseudohypoaldosteronism Type IIB WNK4 3808 97% Pseudohypoaldosteronism Type II WNT1 1129 79% . WNT10A 1270 93% Odontoonychodermal Dysplasia WNT10A 1270 93% Schopf-Schulz-Passarge Syndrome WNT10A 1270 93% Tooth Agenesis, Selective, 4 WNT10B 1186 94% . WNT11 1085 69% . WNT16 1183 99% . WNT2 1103 100% . WNT2B 1329 99% . WNT3 1084 98% Tetra-Amelia Syndrome WNT3A 1075 99% . WNT4 1076 92% 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis WNT4 1076 92% WNT4-Related 46,XY DSD and 46,XY CGD WNT4 1076 92% Mullerian Aplasia And Hyperandrogenism WNT5A 1301 99% WNT5A-Related Robinow Syndrome, Autosomal Dominant WNT5B 1096 100% . WNT6 1114 69% . WNT7A 1066 100% Absence of Ulna and Fibula with Severe Limb Deficiency WNT7A 1066 100% Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly WNT7B 1066 100% . WNT8A 1080 100% . WNT8B 1080 99% . WNT9A 1114 87% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 626

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) WNT9B 1090 93% . WRAP53 1687 100% Dyskeratosis Congenita WRAP53 1687 100% WRAP53-Related Dyskeratosis Congenita WRAP73 1431 100% . WRB 545 98% . WRN 4435 100% Werner Syndrome WRN 4435 100% Choriodal Dystrophy, Central Areolar 2 WRNIP1 2272 81% . WSB1 1302 100% . WSB2 1251 99% . WSCD1 1760 91% . WSCD2 1730 99% . WT1 1705 75% Wilms Tumor WT1 1705 75% Denys-Drash Syndrome WT1 1705 75% Diffuse Mesangial Sclerosis Syndromes (DMS) WT1 1705 75% Isolated Diffuse Mesangial Sclerosis WT1 1705 75% Frasier Syndrome WT1 1705 75% Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome WT1 1705 75% Aniridia-Wilms Tumor Contiguous Gene Deletion Syndrome WT1 1705 75% WT1-Related Disorders WT1 1705 75% Meacham Syndrome WT1 1705 75% Choriodal Dystrophy, Central Areolar 2 WTAP 1410 100% . WTH3DI 769 99% . WTIP 1325 49% . WWC1 3837 97% . WWC2 3671 96% . WWC3 3367 95% . WWOX 1458 87% . WWP1 2861 100% . WWP2 2940 100% . WWTR1 1227 99% . XAB2 2644 94% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 627

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) XAF1 934 100% . XAGE1A 2605 0% . XAGE1B 2605 0% . XAGE1C 2605 0% . XAGE1D 2605 0% . XAGE1E 2605 0% . XAGE2 704 0% . XAGE2B 704 0% . XAGE3 352 100% . XAGE5 343 100% . XBP1 2039 92% . XCL1 357 100% . XCL2 357 100% . XCR1 1006 100% . XDH 4146 98% Xanthinuria, Type I XG 705 86% . XIAP 1518 100% XIAP-Related Lymphoproliferative Disease, X-Linked XIAP 1518 100% Lymphoproliferative Disease, X-Linked XIRP1 16608 100% . XIRP2 12642 100% . XK 1347 95% McLeod Neuroacanthocytosis Syndrome XKR3 1392 80% . XKR4 1965 100% . XKR5 2090 97% . XKR6 1938 93% . XKR7 1752 82% . XKR8 1200 75% . XKR9 1134 100% . XKRX 1362 100% . XKRY 716 0% . XKRY2 716 0% . XPA 846 96% Xeroderma Pigmentosum XPA 846 96% XPA-Related Xeroderma Pigmentosum UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 628

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) XPC 3132 100% Xeroderma Pigmentosum XPC 3132 100% XPC-Related Xeroderma Pigmentosum XPNPEP1 2085 94% . XPNPEP2 2109 92% . XPNPEP3 1564 100% Nephronophthisis-Like Nephropathy 1 XPO1 3312 100% . XPO4 3548 99% . XPO5 3743 100% . XPO6 3474 100% . XPO7 3376 99% . XPOT 2985 100% . XPR1 2151 100% . XRCC1 1970 97% . XRCC2 855 100% . XRCC3 1069 69% . XRCC4 1161 100% . XRCC5 2283 100% . XRCC6 1878 100% . XRCC6BP1 765 96% . XRN1 5289 100% . XRN2 2973 97% . XRRA1 2447 100% . XXYLT1 1198 76% . XYLB 1687 97% . XYLT1 2928 88% . XYLT2 2642 90% . YAE1D1 693 100% . YAF2 841 71% . YAP1 1806 95% . YARS 1639 100% YARS-Related Intermediate Charcot-Marie-Tooth Neuropathy YARS2 1454 100% Congenital Sideroblastic Anemia YARS2 1454 100% Myopathy, Lactic Acidosis, and Sideroblastic Anemia 2 YBEY 707 86% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 629

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) YBX1 1003 83% . YBX2 1127 76% . YDJC 992 61% . YEATS2 4389 99% . YEATS4 712 100% . YES1 1676 100% . YIF1A 914 98% . YIF1B 1557 91% . YIPF1 953 100% . YIPF2 983 96% . YIPF3 1089 100% . YIPF4 759 91% . YIPF5 794 100% . YIPF6 739 94% . YIPF7 867 100% . YJEFN3 928 77% . YKT6 625 99% . YLPM1 6521 100% . YME1L1 2402 100% . YOD1 1055 95% . YPEL1 376 100% . YPEL2 376 100% . YPEL3 725 100% . YPEL4 400 90% . YPEL5 374 100% . YRDC 860 55% . YSK4 4027 100% . YTHDC1 2252 100% . YTHDC2 4409 100% . YTHDF1 1700 98% . YTHDF2 3348 99% . YTHDF3 1777 98% . YWHAB 761 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 630

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) YWHAE 792 100% . YWHAG 752 100% . YWHAH 749 88% . YWHAQ 758 100% . YWHAZ 758 100% . YY1 1265 90% . YY1AP1 4968 100% . YY2 1123 100% . ZACN 1275 98% . ZADH2 1142 92% . ZAK 2864 100% . ZAN 8835 98% . ZAP70 2105 92% ZAP70-Related Severe Combined Immunodeficiency ZAR1 1291 36% . ZAR1L 982 97% . ZBBX 2714 100% . ZBED1 4178 50% . ZBED2 661 100% . ZBED3 709 13% . ZBED4 3520 100% . ZBED5 2086 30% . ZBED6 2944 0% . ZBP1 1897 96% . ZBTB1 4333 100% . ZBTB10 2821 84% . ZBTB11 3206 100% . ZBTB12 1384 97% . ZBTB16 2046 100% . ZBTB17 2806 94% . ZBTB2 1553 100% . ZBTB20 3851 100% . ZBTB22 1909 100% . ZBTB24 3174 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 631

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZBTB25 1316 100% . ZBTB26 1330 100% . ZBTB3 1733 100% . ZBTB32 1484 100% . ZBTB33 2023 100% . ZBTB34 1507 100% . ZBTB37 1754 100% . ZBTB38 3592 100% . ZBTB39 2143 100% . ZBTB4 3050 95% . ZBTB40 3788 100% . ZBTB41 2770 100% . ZBTB42 1273 1% . ZBTB43 1408 100% . ZBTB44 1382 100% . ZBTB45 1544 98% . ZBTB46 1786 97% . ZBTB47 2264 75% . ZBTB48 2107 100% . ZBTB49 2326 100% . ZBTB5 2038 100% . ZBTB6 1279 100% . ZBTB7A 1763 78% . ZBTB7B 2786 100% . ZBTB7C 1868 95% . ZBTB8A 1338 100% . ZBTB8B 1500 100% . ZBTB8OS 568 100% . ZBTB9 1426 100% . ZC3H10 1309 100% . ZC3H11A 2497 100% . ZC3H12A 1820 100% . ZC3H12B 2531 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 632

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZC3H12C 2676 99% . ZC3H12D 1604 64% . ZC3H13 4759 100% . ZC3H14 3120 99% . ZC3H15 1321 98% . ZC3H18 2930 90% . ZC3H3 2895 88% . ZC3H4 3968 86% . ZC3H6 3618 100% . ZC3H7A 3004 100% . ZC3H7B 3022 100% . ZC3H8 908 99% . ZC3HAV1 2876 100% . ZC3HAV1L 923 61% . ZC3HC1 1549 100% . ZC4H2 1027 96% . ZCCHC10 529 100% . ZCCHC11 5282 100% . ZCCHC12 1213 100% . ZCCHC13 505 99% . ZCCHC14 2902 99% . ZCCHC16 937 100% . ZCCHC17 754 100% . ZCCHC18 1216 100% . ZCCHC2 3593 74% . ZCCHC24 742 69% . ZCCHC3 1219 63% . ZCCHC4 1594 100% . ZCCHC5 1432 99% . ZCCHC6 4592 100% . ZCCHC7 1664 100% . ZCCHC8 2180 100% . ZCCHC9 836 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 633

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZCRB1 682 100% . ZCWPW1 2011 100% . ZCWPW2 1103 100% . ZDBF2 7077 100% . ZDHHC1 1498 73% . ZDHHC11 1287 99% . ZDHHC12 824 86% . ZDHHC13 2086 98% . ZDHHC14 1906 96% . ZDHHC15 1343 100% X-Linked Mental Retardation 91 ZDHHC16 1312 100% . ZDHHC17 1967 100% . ZDHHC18 1199 72% . ZDHHC19 958 87% . ZDHHC2 1152 88% . ZDHHC20 1113 99% . ZDHHC21 826 100% . ZDHHC22 800 95% . ZDHHC23 1250 100% . ZDHHC24 867 89% . ZDHHC3 1012 100% . ZDHHC4 1059 100% . ZDHHC5 2192 100% . ZDHHC6 1282 99% . ZDHHC7 1066 100% . ZDHHC8 2557 88% . ZDHHC9 1131 100% Mental Retardation, X-Linked, Syndromic, Raymond Type ZEB1 3492 99% . ZEB2 3681 100% Mowat-Wilson Syndrome ZER1 2361 98% . ZFAND1 1303 95% . ZFAND2A 454 100% . ZFAND2B 810 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 634

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZFAND3 708 89% . ZFAND4 2220 100% . ZFAND5 662 100% . ZFAND6 978 100% . ZFAT 3977 99% . ZFC3H1 6110 100% . ZFHX2 7755 86% . ZFHX3 11649 100% . ZFHX4 10891 100% . ZFP1 1236 100% . ZFP106 5728 100% . ZFP112 2889 100% . ZFP14 1618 100% . ZFP161 1358 100% . ZFP2 1390 100% . ZFP28 2639 95% . ZFP3 1513 100% . ZFP30 1576 100% . ZFP36 989 100% . ZFP36L1 1591 100% . ZFP36L2 1493 71% . ZFP37 1909 100% . ZFP41 601 100% . ZFP42 937 100% . ZFP57 1627 100% Diabetes Mellitus, 6q24-Related Transient Neonatal ZFP62 5417 83% . ZFP64 3505 100% . ZFP82 1615 100% . ZFP90 1927 100% . ZFP91 1866 90% . ZFP92 1267 83% . ZFPL1 961 100% . ZFPM1 3061 53% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 635

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZFPM2 3488 99% . ZFR 3305 97% . ZFR2 3060 61% . ZFX 4051 100% . ZFY 3011 100% . ZFYVE1 2489 100% . ZFYVE16 4688 100% . ZFYVE19 1460 96% . ZFYVE20 2399 100% . ZFYVE21 791 98% . ZFYVE26 7784 100% Spastic Paraplegia 15 ZFYVE27 1782 99% Spastic Paraplegia 33 ZFYVE28 3131 86% . ZFYVE9 4472 100% . ZG16 516 100% . ZG16B 643 98% . ZGLP1 832 99% . ZGPAT 1961 100% . ZHX1 2626 100% . ZHX1-C8ORF76 847 100% . ZHX2 2518 100% . ZHX3 2879 100% . ZIC1 1356 100% . ZIC2 1611 66% Holoprosencephaly ZIC2 1611 66% ZIC2-Related Holoprosencephaly ZIC2 1611 66% Choriodal Dystrophy, Central Areolar 2 ZIC3 1416 80% Heterotaxy Syndrome ZIC3 1416 80% ZIC3-Related Visceral Heterotaxy ZIC3 1416 80% VACTERL Association, X-Linked, with or without Hydrocephalus ZIC3 1416 80% Choriodal Dystrophy, Central Areolar 2 ZIC4 1367 82% . ZIC5 2000 47% . ZIK1 1480 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 636

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZIM2 1998 100% . ZIM3 1435 100% . ZKSCAN1 1712 100% . ZKSCAN2 2932 100% . ZKSCAN3 1789 100% . ZKSCAN4 1658 100% . ZKSCAN5 2544 100% . ZMAT1 1941 94% . ZMAT2 624 100% . ZMAT3 1106 100% . ZMAT4 714 86% . ZMAT5 533 98% . ZMIZ1 3288 100% . ZMIZ2 2835 100% . ZMPSTE24 1468 100% Mandibuloacral Dysplasia ZMPSTE24 1468 100% Lethal Restrictive Dermopathy, ZMPSTE24-Related ZMYM1 3465 100% . ZMYM2 4226 100% . ZMYM3 4570 95% . ZMYM4 4767 99% . ZMYM5 2707 100% . ZMYM6 4038 75% . ZMYM6NB 477 81% . ZMYND10 1371 99% . ZMYND11 2157 100% . ZMYND12 1276 100% . ZMYND15 2281 89% . ZMYND17 1407 100% . ZMYND19 708 92% . ZMYND8 3882 98% . ZNF10 1738 100% . ZNF100 1649 100% . ZNF101 1327 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 637

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF107 2360 100% . ZNF114 1266 100% . ZNF117 1460 100% . ZNF12 5830 100% . ZNF121 1181 100% . ZNF124 886 96% . ZNF131 1798 100% . ZNF132 2133 97% . ZNF133 1974 100% . ZNF134 1292 99% . ZNF135 7645 100% . ZNF136 1639 100% . ZNF138 1873 100% . ZNF14 1945 100% . ZNF140 1390 61% . ZNF141 1441 100% . ZNF142 5092 100% . ZNF143 1977 100% . ZNF146 883 100% . ZNF148 2409 100% . ZNF154 1326 97% . ZNF155 1633 100% . ZNF157 1537 98% . ZNF16 2057 100% . ZNF160 2473 100% . ZNF165 1470 100% . ZNF167 2309 99% . ZNF169 1828 100% . ZNF17 2001 100% . ZNF174 1320 100% . ZNF175 2152 100% . ZNF177 2580 79% . ZNF18 1674 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 638

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF180 2099 100% . ZNF181 1835 100% . ZNF182 1955 96% . ZNF184 2276 100% . ZNF185 2527 86% . ZNF187 2297 85% . ZNF189 2024 100% . ZNF19 1393 100% . ZNF192 1757 100% . ZNF193 1354 88% . ZNF195 1914 92% . ZNF197 3149 100% . ZNF2 1428 100% . ZNF20 1755 100% . ZNF200 2061 100% . ZNF202 1971 100% . ZNF205 1689 100% . ZNF207 1533 100% . ZNF208 3859 100% . ZNF211 1750 98% . ZNF212 1508 98% . ZNF213 1400 100% . ZNF214 1829 100% . ZNF215 1574 100% . ZNF217 3163 100% . ZNF219 2185 64% . ZNF22 679 100% . ZNF221 1870 100% . ZNF222 1511 97% . ZNF223 1465 100% . ZNF224 2140 100% . ZNF225 2137 100% . ZNF226 2482 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 639

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF227 2416 100% . ZNF229 2494 100% . ZNF23 1944 100% . ZNF230 1441 100% . ZNF232 1351 100% . ZNF233 2029 100% . ZNF234 2119 100% . ZNF235 2233 100% . ZNF236 5662 98% . ZNF238 3191 100% . ZNF239 1381 100% . ZNF24 1119 100% . ZNF248 1756 100% . ZNF25 1391 100% . ZNF250 1849 99% . ZNF251 2032 100% . ZNF253 1516 100% . ZNF254 1996 100% . ZNF256 1896 98% . ZNF257 1708 100% . ZNF259 1436 94% . ZNF26 1618 0% . ZNF260 1243 100% . ZNF263 2076 100% . ZNF264 1900 99% . ZNF266 1666 100% . ZNF267 2248 100% . ZNF268 7887 95% . ZNF273 1726 100% . ZNF274 2475 100% . ZNF275 1006 100% . ZNF276 2197 90% . ZNF277 1401 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 640

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF28 2169 100% . ZNF280A 1633 100% . ZNF280B 1636 100% . ZNF280C 2286 99% . ZNF280D 3507 100% . ZNF281 2692 90% . ZNF282 2048 79% . ZNF283 2056 94% . ZNF284 1798 100% . ZNF285 1785 100% . ZNF286A 1586 100% . ZNF286B 1585 94% . ZNF287 2306 100% . ZNF292 8204 98% . ZNF295 9615 100% . ZNF296 1440 99% . ZNF3 1486 100% . ZNF30 1994 100% . ZNF300 2060 100% . ZNF302 1216 100% . ZNF304 1992 100% . ZNF311 2025 100% . ZNF317 1812 94% . ZNF318 6880 94% . ZNF319 1753 99% . ZNF32 830 100% . ZNF320 1542 100% . ZNF322 1213 88% . ZNF323 1388 100% . ZNF324 1674 98% . ZNF324B 1647 100% . ZNF326 1921 99% . ZNF329 1630 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 641

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF330 999 100% . ZNF331 1404 100% . ZNF333 2042 100% . ZNF334 2190 100% . ZNF335 4137 99% . ZNF337 2272 100% . ZNF33A 4642 100% . ZNF33B 2353 100% . ZNF34 1703 94% . ZNF341 2604 99% . ZNF343 1816 100% . ZNF345 1471 100% . ZNF346 913 82% . ZNF347 2675 100% . ZNF35 1596 100% . ZNF350 1615 100% . ZNF354A 1834 100% . ZNF354B 1855 99% . ZNF354C 1681 100% . ZNF358 1711 81% . ZNF362 1295 89% . ZNF365 2153 99% . ZNF366 2251 100% . ZNF367 1073 78% . ZNF37A 1702 100% . ZNF382 1665 100% . ZNF383 1444 100% . ZNF384 2108 100% . ZNF385A 1334 61% . ZNF385B 1624 100% . ZNF385D 1220 100% . ZNF391 1081 100% . ZNF394 1698 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 642

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF395 1578 98% . ZNF396 1018 100% . ZNF397 3642 100% . ZNF398 2084 99% . ZNF404 1658 100% . ZNF407 7112 99% . ZNF408 2215 100% . ZNF41 2356 97% X-Linked Mental Retardation 89 ZNF410 1906 100% . ZNF414 1288 37% . ZNF415 1699 100% . ZNF416 1801 98% . ZNF417 1740 100% . ZNF418 2043 100% . ZNF419 1690 100% . ZNF420 2079 100% . ZNF423 3887 100% . ZNF425 2275 100% . ZNF426 1689 100% . ZNF428 2682 28% . ZNF429 2041 100% . ZNF43 2446 100% . ZNF430 1836 100% . ZNF431 1751 100% . ZNF432 1975 100% . ZNF433 2038 100% . ZNF434 1470 100% . ZNF436 1425 100% . ZNF438 4351 100% . ZNF439 1512 100% . ZNF44 2012 100% . ZNF440 1804 100% . ZNF441 2098 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 643

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF442 1900 100% . ZNF443 2032 100% . ZNF444 1578 37% . ZNF445 3120 99% . ZNF446 1377 99% . ZNF449 1573 100% . ZNF45 2065 100% . ZNF451 3246 97% . ZNF454 1585 100% . ZNF460 1701 100% . ZNF461 1712 96% . ZNF462 7569 100% . ZNF467 1804 70% . ZNF468 3012 100% . ZNF469 11786 0% Brittle Cornea Syndrome 1 ZNF470 2170 100% . ZNF471 1897 100% . ZNF473 2632 100% . ZNF474 1099 100% . ZNF479 1591 100% . ZNF48 3647 98% . ZNF480 1624 100% . ZNF483 2309 100% . ZNF484 2706 100% . ZNF485 1342 100% . ZNF486 1408 100% . ZNF488 1027 100% . ZNF490 1610 100% . ZNF491 1318 100% . ZNF492 1608 100% . ZNF493 4583 99% . ZNF496 1792 100% . ZNF497 1501 98% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 644

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF498 1655 100% . ZNF500 1463 93% . ZNF501 820 100% . ZNF502 1643 100% . ZNF503 1949 77% . ZNF506 1351 100% . ZNF507 2882 100% . ZNF510 2072 100% . ZNF511 783 81% . ZNF512 1760 100% . ZNF512B 2743 86% . ZNF513 1802 100% Retinitis Pigmentosa, Autosomal Recessive ZNF513 1802 100% Retinitis Pigmentosa ZNF513 1802 100% ZNF513-Related Retinitis Pigmentosa ZNF514 1215 100% . ZNF516 4967 99% . ZNF517 1495 96% . ZNF518A 4455 100% . ZNF518B 3229 100% . ZNF519 1635 100% . ZNF521 3964 99% . ZNF524 799 92% . ZNF526 2017 100% . ZNF527 1846 100% . ZNF528 1903 100% . ZNF529 1806 99% . ZNF530 1812 99% . ZNF532 3938 100% . ZNF534 2211 100% . ZNF536 3919 100% . ZNF540 1999 99% . ZNF541 4158 67% . ZNF543 1819 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 645

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF544 2164 100% . ZNF546 2531 100% . ZNF547 1221 100% . ZNF548 1654 100% . ZNF549 1939 100% . ZNF550 1154 100% . ZNF551 1977 100% . ZNF552 1236 100% . ZNF554 1637 97% . ZNF555 3480 100% . ZNF556 1387 99% . ZNF557 1410 100% . ZNF558 1233 99% . ZNF559 1801 100% . ZNF559-ZNF177 1466 81% . ZNF560 2405 100% . ZNF561 1481 100% . ZNF562 1301 100% . ZNF563 1447 100% . ZNF564 1678 100% . ZNF565 1516 100% . ZNF566 1379 100% . ZNF567 1863 100% . ZNF568 3667 100% . ZNF569 2077 100% . ZNF57 1684 100% . ZNF570 1627 100% . ZNF571 1842 100% . ZNF572 1598 100% . ZNF573 2373 95% . ZNF574 2695 100% . ZNF575 746 80% . ZNF576 521 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 646

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF577 2653 100% . ZNF578 1785 100% . ZNF579 1693 28% . ZNF580 523 68% . ZNF581 598 100% . ZNF582 1570 100% . ZNF583 1726 100% . ZNF584 1282 98% . ZNF585A 2157 100% . ZNF585B 2326 100% . ZNF586 2402 98% . ZNF587 1874 100% . ZNF589 1111 100% . ZNF592 3836 100% . ZNF593 417 71% . ZNF594 2428 100% . ZNF595 5407 99% . ZNF596 1535 100% . ZNF597 1287 100% . ZNF598 3221 77% . ZNF599 1783 99% . ZNF600 2173 100% . ZNF605 2035 34% . ZNF606 2403 100% . ZNF607 2210 100% . ZNF608 4575 100% . ZNF609 4268 100% . ZNF610 1405 100% . ZNF611 4062 100% . ZNF613 2001 100% . ZNF614 1774 100% . ZNF615 2249 98% . ZNF616 2358 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 647

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF618 2642 99% . ZNF619 1943 95% . ZNF620 2293 100% . ZNF621 1336 91% . ZNF622 1458 100% . ZNF623 3230 100% . ZNF624 2618 100% . ZNF625 925 100% . ZNF626 1660 99% . ZNF627 1402 100% . ZNF628 3172 69% . ZNF629 2618 100% . ZNF630 2121 98% . ZNF638 6168 100% . ZNF639 1474 100% . ZNF641 1856 100% . ZNF642 1601 100% . ZNF643 1625 100% . ZNF644 4052 100% . ZNF645 1282 100% . ZNF646 5507 100% . ZNF648 1711 96% . ZNF649 1534 100% . ZNF652 1841 100% . ZNF653 1884 79% . ZNF654 1754 100% . ZNF655 2015 98% . ZNF658 3196 98% . ZNF660 1000 100% . ZNF662 1736 95% . ZNF664 790 100% . ZNF664-FAM101A 416 100% . ZNF665 2049 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 648

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF667 1849 100% . ZNF668 2614 98% . ZNF669 1676 94% . ZNF670 2169 100% . ZNF671 1621 100% . ZNF672 1363 87% . ZNF673 695 93% . ZNF674 3374 100% ZNF674-Related X-linked Mental Retardation ZNF675 1723 100% . ZNF676 1779 100% . ZNF677 1767 100% . ZNF678 1759 94% . ZNF679 1252 100% . ZNF680 1732 100% . ZNF681 1954 100% . ZNF682 1644 100% . ZNF683 1535 100% . ZNF684 1153 100% . ZNF687 3746 98% . ZNF688 1001 95% . ZNF689 1515 99% . ZNF69 470 99% . ZNF691 1718 100% . ZNF692 1818 96% . ZNF695 2857 100% . ZNF696 1133 85% . ZNF697 1646 85% . ZNF699 1949 100% . ZNF7 2077 100% . ZNF70 1345 100% . ZNF700 2245 100% . ZNF701 1702 92% . ZNF703 1781 46% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 649

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF704 1271 100% . ZNF705A 923 100% . ZNF705D 923 31% . ZNF705G 923 100% . ZNF706 239 100% . ZNF707 1132 100% . ZNF708 1708 100% . ZNF709 1942 100% . ZNF71 1474 100% . ZNF710 2011 99% . ZNF711 2314 100% ZNF711-Related X-Linked Mental Retardation ZNF713 1309 100% . ZNF714 1677 98% . ZNF716 1504 100% . ZNF717 2761 15% . ZNF718 1453 100% . ZNF720 401 94% . ZNF721 2780 100% . ZNF726 238 100% . ZNF727 1516 100% . ZNF732 1767 100% . ZNF735 1255 100% . ZNF736 1300 100% . ZNF737 1627 100% . ZNF74 1955 100% . ZNF740 606 100% . ZNF746 3070 81% . ZNF747 584 86% . ZNF749 2349 100% . ZNF750 2180 100% . ZNF75A 903 100% . ZNF75D 1553 100% . ZNF76 1765 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 650

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF761 2386 100% . ZNF763 1210 100% . ZNF764 2160 95% . ZNF765 1584 100% . ZNF766 1423 100% . ZNF768 1631 100% . ZNF77 1654 100% . ZNF770 2080 100% . ZNF771 962 58% . ZNF772 1490 100% . ZNF773 1345 100% . ZNF774 1464 100% . ZNF775 1622 82% . ZNF776 1569 100% . ZNF777 2516 100% . ZNF778 2210 100% . ZNF780A 3983 100% . ZNF780B 2518 100% . ZNF781 988 100% . ZNF782 2116 100% . ZNF783 1665 97% . ZNF784 980 69% . ZNF785 1230 98% . ZNF786 2365 100% . ZNF787 1160 61% . ZNF789 1336 100% . ZNF79 1517 100% . ZNF790 1927 100% . ZNF791 1747 100% . ZNF792 1915 99% . ZNF793 1237 100% . ZNF799 1948 100% . ZNF8 1744 96% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 651

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF80 826 100% . ZNF800 2015 100% . ZNF804A 3646 100% . ZNF804B 4066 100% . ZNF805 3535 99% . ZNF808 2724 100% . ZNF81 2002 99% X-Linked Mental Retardation 45 ZNF813 1866 100% . ZNF814 2580 99% . ZNF816 1968 100% . ZNF816-ZNF321P 697 100% . ZNF821 1792 100% . ZNF823 1849 100% . ZNF827 3286 100% . ZNF829 1692 90% . ZNF83 4665 100% . ZNF830 1123 100% . ZNF831 5054 100% . ZNF835 1665 100% . ZNF836 2823 100% . ZNF837 1600 46% . ZNF839 2816 90% . ZNF84 2233 0% . ZNF841 2791 99% . ZNF843 1051 27% . ZNF844 2017 100% . ZNF845 2925 100% . ZNF846 1622 100% . ZNF85 1907 100% . ZNF850 3289 98% . ZNF853 1992 17% . ZNF860 1903 100% . ZNF862 3542 99% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 652

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZNF865 3184 9% . ZNF878 1605 100% . ZNF879 1708 66% . ZNF880 1750 99% . ZNF883 1144 100% . ZNF90 1822 100% . ZNF91 3592 100% . ZNF92 1877 100% . ZNF93 1879 100% . ZNF98 1735 100% . ZNF99 2544 100% . ZNFX1 5809 100% . ZNHIT1 485 100% . ZNHIT2 1216 84% . ZNHIT3 488 100% . ZNHIT6 2773 100% . ZNRD1 397 100% . ZNRF1 700 35% . ZNRF2 745 43% . ZNRF3 2543 100% . ZNRF4 1294 100% . ZP1 1965 100% . ZP2 2314 100% . ZP3 1623 99% . ZP4 1671 100% . ZPBP 1245 91% . ZPBP2 1049 100% . ZPLD1 1340 100% . ZRANB1 2163 100% . ZRANB2 1071 100% . ZRANB3 3320 100% . ZRSR2 1493 98% . ZSCAN1 1243 100% . UCLA Health System Clinical Exome Sequencing ENHANCED/TRIO PACKAGES Department of Pathology and Laboratory Medicine Feb 2013 UCLA Molecular Diagnostics Laboratories Page 653

Gene_Symbol cDNA_Length(bp) coverage Associated_Disease(GeneTests) ZSCAN10 2198 94% . ZSCAN12 1848 100% . ZSCAN16 1059 100% . ZSCAN18 3108 92% . ZSCAN2 1943 100% . ZSCAN20 3160 100% . ZSCAN21 1434 100% . ZSCAN22 1484 100% . ZSCAN23 1182 100% . ZSCAN29 2579 100% . ZSCAN30 1518 100% . ZSCAN4 1314 100% . ZSCAN5A 1507 100% . ZSCAN5B 1504 100% . ZSWIM1 1462 100% . ZSWIM2 1938 100% . ZSWIM3 2099 100% . ZSWIM4 3022 88% . ZSWIM5 3614 96% . ZSWIM6 3704 65% . ZSWIM7 914 50% . ZUFSP 1773 100% . ZW10 2404 100% . ZWILCH 1848 100% . ZWINT 1186 100% . ZXDA 2404 86% . ZXDB 2416 85% . ZXDC 3319 86% . ZYG11A 2336 97% . ZYG11B 2291 99% . ZYX 1755 98% . ZZEF1 9106 97% . ZZZ3 2756 100% .