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