UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) MARC1 1093 80% . MARCH1 1005 100% . MARC2 1797 92% . MARCH3 802 100% . MARCH4 1249 99% . MARCH5 861 96% . MARCH6 2907 100% . MARCH7 2161 100% . MARCH8 900 100% . MARCH9 1057 73% . MARCH10 2467 100% . MARCH11 1225 56% . SEPT1 1148 100% . SEPT2 1341 100% . SEPT3 1175 100% . SEPT4 1848 96% . SEPT5 1250 94% . SEPT6 1440 96% . SEPT7 1417 96% . SEPT8 1659 98% . SEPT9 2290 96% Hereditary Neuralgic Amyotrophy SEPT10 1605 98% . SEPT11 1334 98% . SEPT12 1113 100% . SEPT14 1335 100% . SEP15 518 100% . DEC1 229 100% . A1BG 1626 82% . A1CF 1956 100% . A2LD1 466 42% . A2M 4569 100% . A2ML1 4505 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:2 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) A4GALT 1066 100% . A4GNT 1031 100% . AAAS 1705 100% Achalasia‐Addisonianism‐Alacrima Syndrome AACS 2091 94% . AADAC 1232 100% . AADACL2 1226 100% . AADACL3 1073 100% . AADACL4 1240 100% . AADAT 1342 97% . AAGAB 988 100% . AAK1 3095 100% . AAMP 1422 100% . AANAT 637 93% . AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2 AARS 3059 100% Charcot‐Marie‐Tooth Neuropathy Type 2N AARS2 3050 100% . AARSD1 1902 98% . AASDH 3391 100% . AASDHPPT 954 100% . AASS 2873 100% Hyperlysinemia AATF 1731 99% . AATK 4181 78% . ABAT 1563 100% GABA‐Transaminase Deficiency ABCA1 6991 100% ABCA1‐Associated Familial High Density Lipoprotein Deficiency ABCA1 6991 100% Familial High Density Lipoprotein Deficiency ABCA1 6991 100% Tangier Disease ABCA10 4780 100% . ABCA12 8035 100% ABCA12‐Related Autosomal Recessive Congenital Ichthyosis ABCA12 8035 100% Autosomal Recessive Congenital Ichthyosis ABCA12 8035 100% Harlequin Ichthyosis ABCA13 15482 99% . ABCA2 7889 95% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:3 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) ABCA3 5261 99% ABCA3‐Related Pulmonary Surfactant Metabolism Dysfunction ABCA3 5261 99% Pulmonary Surfactant Metabolism Dysfunction ABCA4 7022 100% ABCA4‐Related Retinitis Pigmentosa ABCA4 7022 100% ABCA4‐Related Stargardt Disease 1 ABCA4 7022 100% Age‐Related Macular Degeneration ABCA4 7022 100% Age‐Related Macular Degeneration 2 ABCA4 7022 100% Cone‐Rod Dystrophy 3 ABCA4 7022 100% Retinitis Pigmentosa, Autosomal Recessive ABCA4 7022 100% Stargardt Disease, Autosomal Recessive ABCA5 5084 100% . ABCA6 5104 100% . ABCA7 6709 96% . ABCA8 4894 100% . ABCA9 5066 100% . ABCB1 3951 100% . ABCB10 2269 77% . ABCB11 4074 100% ABCB11‐Related Intrahepatic Cholestasis ABCB11 4074 100% Low Gamma‐GT Familial Intrahepatic Cholestasis ABCB4 3969 100% Progressive Familial Intrahepatic Cholestasis 3 ABCB5 3923 100% . ABCB6 2605 100% . ABCB7 2332 100% X‐Linked Sideroblastic Anemia and Ataxia ABCB8 2221 100% . ABCB9 2551 90% . ABCC1 4720 98% . ABCC10 4655 100% . ABCC11 4265 100% . ABCC12 4200 100% . ABCC2 4781 100% Dubin‐Johnson Syndrome ABCC3 4994 99% . ABCC4 4151 99% . ABCC5 4575 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:4 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) ABCC6 4646 92% Pseudoxanthoma Elasticum ABCC8 4947 97% ABCC8‐Related Hyperinsulinism ABCC8 4947 97% ABCC8‐Related Permanent Neonatal Diabetes Mellitus ABCC8 4947 97% ABCC8‐Related Transient Neonatal Diabetes Mellitus 2 ABCC8 4947 97% Familial Hyperinsulinism ABCC8 4947 97% Permanent Neonatal Diabetes Mellitus ABCC9 4944 100% ABCC9‐Related Dilated Cardiomyopathy ABCC9 4944 100% Dilated Cardiomyopathy ABCD1 2436 92% Adrenoleukodystrophy, X‐Linked ABCD2 2263 100% . ABCD3 2103 100% . ABCD4 1897 100% . ABCE1 1868 100% . ABCF1 2795 94% . ABCF2 1969 100% . ABCF3 2214 100% . ABCG1 2265 95% . ABCG2 2047 100% . ABCG4 1997 100% . ABCG5 2008 91% Sitosterolemia ABCG8 2074 97% Sitosterolemia ABHD1 1278 100% . ABHD10 941 100% . ABHD11 1078 99% . ABHD12 1311 85% Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract ABHD12B 1141 91% . ABHD13 1018 100% . ABHD14A 836 91% . ABHD14B 907 98% . ABHD15 1415 88% . ABHD16A 2173 94% . ABHD16B 1414 66% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:5 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) ABHD2 1314 100% . ABHD3 1266 100% . ABHD4 1057 98% . ABHD5 1097 100% Chanarin‐Dorfman Syndrome ABHD6 1046 100% . ABHD8 1336 100% . ABI1 1630 97% . ABI2 1470 100% . ABI3 1133 89% . ABI3BP 3424 100% . ABL1 3577 99% . ABL2 3827 99% . ABLIM1 2586 100% . ABLIM2 2076 99% . ABLIM3 2144 100% . ABO 7 0% . ABP1 2329 100% . ABR 2811 97% . ABRA 1154 100% . ABT1 831 100% . ABTB1 1485 97% . ABTB2 3146 90% . ACAA1 1324 93% . ACAA2 1240 92% . ACACA 7433 100% . ACACB 7670 100% . ACAD10 3357 97% . ACAD11 2440 100% . ACAD8 1292 97% Isobutyryl‐CoA Dehydrogenase Deficiency ACAD9 2330 100% Acyl‐CoA Dehydrogenase 9 Deficiency ACADL 1337 96% Long‐Chain Acyl‐CoA Dehydrogenase Deficiency ACADM 1326 100% Medium Chain Acyl‐Coenzyme A Dehydrogenase Deficiency UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:6 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) ACADS 1279 96% Short Chain Acyl‐CoA Dehydrogenase Deficiency ACADSB 1343 97% Acyl‐CoA Dehydrogenase, Short/Branched Chain Deficiency ACADVL 2186 98% Very Long Chain Acyl‐Coenzyme A Dehydrogenase Deficiency ACAN 7661 87% . ACAP1 2311 95% . ACAP2 2429 98% . ACAP3 2601 82% . ACAT1 1332 94% Ketothiolase Deficiency ACAT2 1230 99% . ACBD3 1619 86% . ACBD4 1094 97% . ACBD5 1670 100% . ACBD6 881 100% . ACBD7 283 100% . ACCN1 2291 93% . ACCN2 1769 100% . ACCN3 1755 97% . ACCN4 2041 94% . ACCN5 1558 100% . ACCS 1562 100% . ACCSL 1763 100% . ACD 1842 100% . ACE 4224 95% Cardiovascular Disease Risk Factor (Angiotensin Converting Enzyme (ACE)) ACE2 2490 100% . ACER1 819 100% . ACER2 852 95% . ACER3 848 88% . ACHE 2171 98% . ACIN1 4249 100% . ACLY 3445 100% . ACMSD 1051 100% . ACN9 386 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:7 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) ACO1 2772 100% . ACO2 2496 100% . ACOT1 1278 73% . ACOT11 2052 96% . ACOT12 1736 94% . ACOT13 436 100% . ACOT2 1464 96% . ACOT4 1278 91% . ACOT6 632 100% . ACOT7 1437 94% . ACOT8 984 100% . ACOT9 1434 99% . ACOX1 2204 100% Pseudoneonatal Adrenoleukodystrophy ACOX2 2129 100% . ACOX3 2171 94% . ACOXL 1811 99% . ACP1 683 100% . ACP2 1349 100% . ACP5 994 100% . ACP6 1327 98% . ACPL2 1464 100% . ACPP 1324 100% . ACPT 1325 86% . ACR 1286 90% . ACRBP 1672 98% . ACRC 2124 97% . ACRV1 814 100% . ACSBG1 2231 100% . ACSBG2 2053 100% . ACSF2 1912 96% . ACSF3 1820 99% . ACSL1 2216 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:8 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) ACSL3 2219 100% . ACSL4 2192 100% X‐Linked Mental Retardation 63 ACSL5 2304 100% . ACSL6 2346 100% . ACSM1 1800 100% . ACSM2A 1787 100% . ACSM2B 1786 100% . ACSM3 1978 100% . ACSM4 1795 100% . ACSM5 1792 100% . ACSS1 2128 96% . ACSS2 2227 93% . ACSS3 2125 99% . ACTA1 1158 100% ACTA1‐Related Congenital Fiber‐Type Disproportion ACTA1 1158 100% ACTA1‐Related Nemaline Myopathy ACTA1 1158 100% Childhood Restrictive Cardiomyopathy ACTA1 1158 100% Congenital Fiber‐Type Disproportion ACTA1 1158 100% Nemaline Myopathy ACTA2 1166 100% ACTA2‐Related Thoracic Aortic Aneurysms and Aortic Dissections ACTA2 1166 100% Thoracic Aortic Aneurysms and Aortic Dissections ACTB 1154 100% . ACTBL2 1135 100% . 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% Dilated Cardiomyopathy ACTC1 1158 100% Familial Hypertrophic Cardiomyopathy ACTG1 1148 100% DFNA20/26 Nonsyndromic Hearing Loss and Deafness ACTG1 1148 100% Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant ACTG2 1264 100% . ACTL10 742 92% . ACTL6A 1355 100% . UCLA Health System Clinical Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:9 Gene_Symbol Total_coding_bp %_bp_>=10X Associated_Disease(OMIM) ACTL6B 1337 96% . ACTL7A 1312 100% . ACTL7B 1252 100% . ACTL8 1109 100% . ACTL9 1255 100% . ACTN1 2962 100% . ACTN2 2769 100% ACTN2‐Related Dilated Cardiomyopathy ACTN2 2769 100% ACTN2‐Related Familial Hypertrophic Cardiomyopathy ACTN2 2769 100% Dilated Cardiomyopathy ACTN2 2769 100% Familial Hypertrophic Cardiomyopathy ACTN3 2790 99% . ACTN4 2820 96% Focal Segmental Glomerulosclerosis ACTN4 2820 96% Focal Segmental Glomerulosclerosis 1 ACTR10 1306 100% . ACTR1A 1175 100% . ACTR1B 1179 97% . ACTR2 1240 99% . ACTR3 1305 97% . ACTR3B 1305 96% . ACTR3C 708 100% . ACTR5 1860 88% . ACTR6 1408 100% . ACTR8 1946 100% . ACTRT1 1135 100% . ACTRT2 1138 100% . ACVR1 1566 100% Fibrodysplasia