#gene gene_id phenotype disease_category cyto inheritance penetrance prevalence age_of_onset severity chr gene_start gene_end AAAS 8086 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA ED AR 3 RARE 2 2 12 53701240 53718648 ABAT 18 "4-aminobutyrate aminotransferase (GABA-transaminase, GABA-T) deficiency" MB 16p13.2 AR 3 "<1:1,000,000" 1 1 16 8768422 8878432 ABCA12 26154 Autosomal Recessive Congenital Ichthyosis CU AR 3 "1:200,000" 1 3 2 215796266 216003151 ABCA3 21 Surfactant dysfunction RP AR 3 "1:1,000,000" 1 2 16 2325882 2390747 ABCB11 8647 Low Gamma-GT Familial Intrahepatic Cholestasis HP AR 3 "1:50,000-100,000, more common in Greenland Inuit and Old Order Amish" 2 2 2 169779448 169887832 ABCC6 368 Pseudoxanthoma Elasticum CU;OC;DV AR 3 "1:25,000-100,000" 3 2 16 16242785 16317379 ABCC8 6833 Familial Hyperinsulinism MB 11p15.1 AR 2 "1:50,000 in European" 2 2 11 17414432 17498449 ABCD1 215 X-Linked Adrenoleukodystrophy MB;NU Xq28 XL 2 "1:20,000 - 50,000" 3 2 X 152990323 153010216 ABHD12 26090 "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)" NU;DV AR 3 UNKNOWN 3 2 20 25275379 25371619 ACAD9 28976 "ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF" MB AR 3 UNKNOWN 1 2 3 128598439 128634910 ACADL 33 Very-Long Chain Acyl-CoA Dehydrogenase Deficiency MB AR 1 "1:30,000 in US" 2 2 2 211052663 211090215 ACADM 34 Medium Chain Acyl-CoA Dehydrogenase Deficiency MB 1p31.1 AR 3 "1:4,900-170,000" 2 2 1 76190036 76253260 ACADS 35 Short-Chain Acyl-CoA Dehydrogenase Deficiency MB AR 3 ">1:50,000 in Netherlands" 2 2 12 121163538 121177811 ACADSB 36 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY MB AR 3 "rare, high in Hmong population" 2 2 10 124768495 124817827 ACADVL 37 Very-Long Chain Acyl-CoA Dehydrogenase Deficiency MB 17p13.1 AR 1 "1:30,000 in US" 2 2 17 7120444 7128592 ACAT1 38 Ketothiolase Deficiency MB 11q22.3 AR 3 "<1:1,000,000" 1 1 11 107992243 108018503 ACE 1636 Renal tubular dysgenesis RN AR 3 RARE 1 1 17 61554422 61599205 ACOX1 51 Peroxisomal acyl-CoA oxidase deficiency MB AR 3 Unknown 1 1 17 73937588 73975515 ACTA1 58 "Congenital Fiber-Type Disproportion,nemaline myopathy" NM AD 3 "unknown, rare" 1 2 1 229566992 229569845 ACTA2 59 Thoracic Aortic Aneurysms and Aortic Dissections CD AD 5 COMMON 3 2 10 90694831 90751147 ADA 100 Adenosine Deaminase Deficiency IM 20q13.12 AR 3 "1:200,000-1,000,000" 2 2 20 43248163 43280874 ADAMTS10 81794 Weill-Marchesani Syndrome DV 19p13.2 AR 1 "1:100,000" 2 3 19 8645126 8675620 ADAMTS13 11093 Thrombotic thrombocytopenic purpura HM AR 3 "1.7-11:1,000,000" 2 2 9 136279478 136324508 ADAMTS2 9509 "EHLERS-DANLOS SYNDROME, VII, AR" NU;DV AR 3 UNknown 1 2 5 178537852 178772431 ADAMTSL2 9719 Geleophysic Dysplasia 1 SK;CD;DV AR 3 UNKNOWN; RARE 2 1 9 136397286 136440641 AGA 175 Aspartylglycosaminuria MB 4q34.3 AR 3 "1:18,500 in Finland" 2 2 4 178351924 178363657 AGL 178 Glycogen Storage Disease Type III MB 1p21.2 AR 3 "1:100,000" 2 2 1 100315640 100389579 AGPAT2 10555 Berardinelli-Seip Congenital Lipodystrophy Type 1 OT AR 3 "1:200,000-10,000,000" 1 2 9 139567595 139581875 AGPS 8540 Rhizomelic chondrodysplasia punctata MB AR 3 "<1:100,000" 1 1 2 178257372 178408564 AGRN 375790 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 1 955503 991496 AGT 183 Renal tubular dysgenesis RN AR 3 RARE 1 1 1 230838269 230850043 AGTR1 185 Renal tubular dysgenesis RN AR 3 RARE 1 1 3 148415571 148460795 AGXT 189 Primary Hyperoxaluria Type 1 MB 2q37.3 AR 3 "1-3:1,000,000" 3 2 2 241807896 241819919 AHI1 54806 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 6 135604670 135818914 AIP 9049 Familial Isolated Pituitary Adenomas ED AD 5 Unknown 3 2 11 67250512 67258574 AIRE 326 Polyglandular Autoimmune Syndrome IM 21q22.3 AR 3 "common in Iranian Jews, Sardinians, Finns" 2 2 21 45705721 45718531 ALDH18A1 5832 Cutis Laxa CU AR 3 "1:400,000" 2 2 10 97365696 97416463 ALDH3A2(FALDH) 224 Sjogren-Larsson Syndrome NU 17p11.2 AR 3 "1:250,000 in Sweden" 2 3 17 19551449 19580911 ALDH5A1 7915 Succinic Semialdehyde Dehydrogenase Deficiency MB;NU AR 3 UNKNOWN 2 2 6 24495080 24537435 ALDH7A1 501 Pyridoxine-dependent epilepsy NU AR 3 rare 2 2 5 126541841 126595390 ALDOB 229 Hereditary Fructose Intolerance MB 9q31.1 AR 3 "1:20,000-30,000" 2 2 9 104182860 104198105 ALG1 56052 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 16 5083703 5137380 ALG11 440138 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 13 52586534 52603800 ALG12 79087 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 22 50293877 50312106 ALG2 85365 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 9 101978708 101984238 ALG3 10195 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 3 183960089 183967336 ALG6 29929 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 1 63833261 63904233 ALG8 79053 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 11 77811982 77850706 ALG9 79796 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 11 111652919 111742305 ALMS1 7840 Alstrom Syndrome DV 2p13.1 AR 1 "1:10,000-1,000,000" 2 2 2 73612886 73837920 ALOX12B 242 Autosomal Recessive Congenital Ichthyosis CU AR 3 "1:200,000" 1 3 17 7975954 7991021 ALOXE3 59344 Autosomal Recessive Congenital Ichthyosis CU AR 3 "1:200,000" 1 3 17 7999218 8022365 ALPL 249 "Hypophosphatasia, Autosomal Recessive" SK 1p36.12 AR 1 "1:100,000 in Ontario; 1:2500 in Canadian Mennonite" 3 2 1 21835858 21904905 ALS2 57679 Autosomal recessive juvenile amyotrophic lateral sclerosis NU AR 1 unknown 2 2 2 202565277 202645912 ALX1 8092 frontonasal dysplasia sequence DV AR 3 Rare 1 1 12 85673885 85695562 ALX3 257 frontonasal dysplasia sequence DV AR 3 Rare 1 1 1 110602616 110613322 ALX4 60529 Enlarged Parietal Foramina/Cranium Bifidum SK AD 4 "1:15,000-50,000" 1 4 11 44281994 44331716 AMACR 23600 Congenital bile acid synthesis defect type 4 MB AR 3 Rare 1 1 5 33986986 34008115 AMER1(FAM123B) 139285 Osteopathia striata with cranial sclerosis SK;DV XL dominant 3 RARE 2 2 X 63404997 63425624 AMPD1 270 Adenosine monophosphate deaminase deficiency NM AR 5 Carrier freq 1:50-100 in Caucasian 3 3 1 115215719 115238239 AMT 275 Glycine Encephalopathy MB AR 3 "1:55,000 in Finland;1:63,000 in British Columbia" 2 2 3 49454211 49460186 ANG 283 Amyotrophic Lateral Sclerosis NU AD 5 "4-8:1,000,000" 4 3 14 21152336 21167130 ANKH 56172 "Craniometaphyseal Dysplasia, Autosomal Dominant" SK AD 2 Rare 1 2 5 14704910 14871887 ANO10 55129 "Spinocerebellar ataxia, autosomal recessive 10" NU AR 3 unknown 3 3 3 43396351 43733086 ANTXR2 118429 "Hyalinosis, Inherited Systemic" CU AR 3 RARE 2 2 4 80822303 81046608 AP3B1 8546 Hermansky-Pudlak Syndrome 2 (HPS2) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 5 77296349 77590579 APRT 353 Adenine Phosphoribosyltransferase Deficiency RN;MB 16q24_.3 AR 3 "1:50,000-100,000" 4 2 16 88875747 88878352 APTX 54840 Ataxia with Oculomotor Apraxia Type 1 NU AR 3 "55:1,000,000 in Portugal, common in Japan" 2 3 9 32972604 33025166 AQP2 359 Nephrogenic Diabetes Insipidus RN AD;AR 3 "8.8:1,000,000 in Quebec; 50:16,000,000 in Dutch" 3 2 12 50344524 50352664 AR 367 INFERTILE MALE SYNDROME ED XL 1 "2-5:100,000" 2 3 X 66764465 66950461 ARFGEF2 10564 Autosomal recessive periventricular heterotopia NU AR 3 Rare 2 2 20 47538427 47653230 ARG1 383 Arginase deficiency MB AR 3 "1:350,000-1,000,000" 2 2 6 131894284 131905472 ARHGEF9 23229 Hyperekplexia NU XL 2 UNKNOWN 1 2 X 62854847 63005426 ARL13B 200894 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 3 93698983 93774512 ARL6 84100 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 3 97483365 97519953 ARSA 410 Arylsulfatase A Deficiency NU 22q13.33 AR 3 "1:40,000-160,000" 3 2 22 51061182 51066607 ARSB 411 Mucopolysaccharidosis Type VI MB 5q14.1 AR 3 "1:250,000-600,000" 2 2 5 78073032 78281910 ARSE 415 "Chondrodysplasia Punctata 1, X-Linked" SK;MB XL 2 ">1:500,000" 1 1 X 2934632 2968310 ARX 170302 Lissencephaly with agenesis of the corpus callosum NU XL 3 Rare 1 1 X 25021811 25034065 ASL 435 Argininosuccinate Lyase Deficiency MB 7q11.21 AR 3 "1:70,000" 2 2 7 65540785 65558545 ASPA 443 Canavan Disease NU;MT 17p13.2 AR 3 "1:6,400-13,456 in AJ" 2 1 17 3375668 3406713 ASPM 259266 Primary Autosomal Recessive Microcephaly SK;DV AR 3 "1:30,000-250,000" 1 2 1 197053258 197115824 ASS1 445 Citrullinemia Type 1 MB 9q34.11 AR 3 "1:57,000" 3 2 9 133320316 133376661 ATCAY 85300 Cayman-type Cerebellar Ataxia NU AR 3 Rare 2 2 19 3879862 3928077 ATIC 471 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY MB AR 3 RARE 1 2 2 216176540 216214487 ATL1 51062 Hereditary Sensory Neuropathy NU AD 5 "30:100,000" 3 2 14 50999227 51099786 ATM 472 Ataxia-Telangiectasia NU;IM 11q22.3 AR 3 "1:40,000-1:100,000" 2 2 11 108093211 108239829 ATP1A3 478 Rapid-Onset Dystonia-Parkinsonism NU AD 5 UNKNOWN 3 2 19 42470734 42501649 ATP6AP2 10159 X-linked mental retardation with epilepsy NU XL 3 UNKNOWN 1 2 X 40440146 40465889 ATP6V0A2 23545 Cutis Laxa CU AR 3 "1:400,000" 2 2 12 124196865 124246302 ATP7A 538 Distal Motor Neuropathy NU XL 3 "1:100,000" 4 3 X 77166194 77305892 ATP7B 540 Wilson Disease MB 13q14.3 AR 3 "1:30,000" 3 2 13 52506809 52585630 ATP8B1 5205 Low Gamma-GT Familial Intrahepatic Cholestasis HP 18q21.31 AR 3 "1:50,000-100,000, more common in Greenland Inuit and Old Order Amish" 2 2 18 55313658 55470333 ATR 545 Seckel syndrome 1 SK AR 3 UNKNOWN 1 2 3 142168077 142297668 ATRX 546 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome NU;HM;DV Xq21_.1 XL 1 "1-9:1,000,000" 2 1 X 76760356 77041702 AUH 549 3-Methylglutaconic Aciduria Type 1 MB 9q22.31 AR 3 "rare; <1:1,000,000" 2 2 9 93976097 94124195 AVPR2 554 Nephrogenic Diabetes Insipidus RN XL 3 "8.8:1,000,000 in Quebec; 50:16,000,000 in Dutch" 3 2 X 153167985 153172620 B3GALTL 145173 Peters Plus Syndrome OC;DV AR 3 UNKNOWN 2 2 13 31774073 31906413 B4GALT1 2683 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 9 33104080 33167354 BAAT 570 Familial hypercholanemia MB AR 3 Rare 1 2 9 104122699 104145801 BAG3 9531 Myofibrillar Myopathy NM AD 3 UNKNOWN 3 3 10 121410882 121437331 BBS1 582 Bardet-Biedl Syndrome DV 11q13.2 AR 2 "1:100,000-160,000" 2 2 11 66278077 66301098 BBS10 79738 Bardet-Biedl Syndrome DV 12q21.2 AR 2 "1:100,000-160,000" 2 2 12 76738254 76742222 BBS12 166379 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 4 122732702 122744943 BBS2 583 Bardet-Biedl syndrome DV 16q12.2 AR 2 "1:100,000-160,000" 2 2 16 56500748 56554195 BBS4 585 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 15 72978527 73030817 BBS5 129880 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 2 170335688 170382432 BBS7 55212 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 4 122745595 122791652 BBS9 27241 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 7 33168856 33645680 BCKDHA 593 Maple Syrup Urine Disease Type IA MB 19q13.2 AR 3 "1:185,000" 2 2 19 41397789 41425005 BCKDHB 594 Maple Syrup Urine Disease Type IB MB 6q14.1 AR 3 "1:185,000" 2 2 6 80816364 81055987 BCOR 54880 Lenz Microphthalmia Syndrome OC;DV XL 3 Rare 2 2 X 39909068 40036582 BCS1L 617 GRACILE Syndrome / Mitochondrial Respiratory Chain Complex III Deficiency MB 2q35 AR 3 ">1:47,000 in Finland" 1 1 2 219523487 219528166 BEST1 7439 Autosomal Dominant Vitreoretinochoroidopathy OC AD 3 unknown 3 3 11 61717293 61732987 BLM 641 Bloom Syndrome DV;IM 15q26.1 AR 3 1:100 carrier freq in AJ 2 2 15 90717327 90815462 BLOC1S3 388552 Hermansky-Pudlak Syndrome 8 (HPS8) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 19 45682003 45685059 BMPR1A 657 Juvenile Polyposis Syndrome GI AD 2 "1:16,000-100,000" 4 2 10 88516407 88692595 BMPR2 659 Heritable Pulmonary Arterial Hypertension OT AD 5 "1,000 new cases each year in US" 4 5 2 203241659 203432474 BRAF 673 Cardiofaciocutaneous Syndrome CD;CU;DV AD 1 "unknown, rare" 1 2 7 140419127 140624564 BRIP1 83990 Fanconi Anemia HM AR 3 "1:360,000" 2 2 17 59758627 59940882 BSCL2 26580 Berardinelli-Seip Congenital Lipodystrophy Type 2 OT AR 3 "1:200,000-10,000,000" 1 2 11 62457747 62477317 BTD 686 Biotindidase Deficiency MB 3p25.1 AR 2 "1:61,067" 1 2 3 15642848 15687329 BTK 695 X-Linked Agammaglobulinemia IM XL 3 "3-6:1,000,000" 1 2 X 100604435 100641183 BUB1B 701 Mosaic variegated aneuploidy syndrome DV AR 3 UNKNOWN 1 2 15 40453224 40513337 C10orf2 56652 Atypical Infantile-Onset Spinocerebellar Ataxia NU AR 1 unknown 1 2 10 102747124 102754158 C5orf42 65250 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 5 37106330 37249530 C9orf72 203228 Amyotrophic Lateral Sclerosis NU AD 3 "4-8:100,000" 4 2 9 27546544 27573864 CA2 760 Osteopetrosis SK AD;AR 5 "1:100,000." 1 1 8 85463902 85481492 CABC1 56997 CoQ10 deficiency MB;NU AR 3 "unknown, rare" 2 2 1 227085237 227175246 CACNB4 785 Episodic Ataxia type 5 NM AD 3 Rare 3 2 2 152689290 152955593 CASK 8573 Neocortical dysplasia and pontocerebellar hypoplasia NU;DV XL 1 UNKNOWN 2 1 X 41374187 41782716 CASP10 843 Autoimmune lymphoproliferative syndrome IM AD 2 "unknown, rare" 3 2 2 202047604 202094129 CATSPER1 117144 Nonsyndromic Male Infertility OT AR 1 UNKNOWN 4 4 11 65784223 65793988 CAV3 859 Nephrogenic Diabetes Insipidus RN AD 3 "8.8:1,000,000 in Quebec; 50:16,000,000 in Dutch" 3 2 3 8775486 8883492 CBS 875 Homocystinuria MB 21q22.3 AR 3 "1:200,000-335,000" 2 2 21 44473301 44497053 CC2D2A 57545 Meckel syndrome DV 4p15.32 AR 3 "1:12,250-140000; 1:9,000 in Finland; 1:3,000 in Belgium" 1 1 4 15471489 15603180 CCDC8 83987 3-M syndrome DV 19q13_.32 AR 3 "unknown, rare" 1 3 19 46410329 46413662 CCDC88C 440193 Congenital hydrocephalus DV 14q32.11 AR 3 "5.9:10,000 in US" 1 1 14 91737667 91884188 CD19 930 Common Variable Immune Deficiency IM AR 3 "1:30,000" 2 2 16 28931761 28939347 CD40LG 959 X-Linked Hyper IgM Syndrome IM XL 1 "2:1,000,000 in males" 2 2 X 135730352 135742549 CD96 10225 C syndrome DV AR 3 "1-9:1,000,000" 1 2 3 111011566 111384597 CDAN1 146059 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 15 43015757 43029324 CDC73 79577 Familial Isolated Hyperparathyroidism ED AD 5 Unknown 3 2 1 193091147 193223031 CDH23 64072 "USHER SYNDROME, ID; USH1D" OC AR 1 "3.6-6.2:100,000" 1 2 10 73156691 73575702 CDK5RAP2 55755 Primary Autosomal Recessive Microcephaly SK;DV AR 3 "1:30,000-250,000" 1 2 9 123151147 123342448 CDKL5 6792 Early infantile epileptic encephalopathy NU XL 3 "1-9:100,000" 1 2 X 18443703 18671749 CDKN1B 1027 Multiple endocrine neoplasia type 1-like syndrome (MEN4) ED ? 5 "1:30,000" 3 2 12 12867992 12875305 CEBPA 1050 Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA HM AD 1 Rare 3 4 19 33790840 33793470 CENPJ 55835 Primary Autosomal Recessive Microcephaly SK;DV AR 3 "1:30,000-250,000" 1 2 13 24882274 24922889 CEP152 22995 Primary Autosomal Recessive Microcephaly SK;DV AR 3 "1:30,000-250,000" 1 2 15 49005125 49103343 CEP290 80184 Leber Congenital Amaurosis OC AR 3 "2-3:100,000" 2 2 12 88442793 88535993 CFH 3075 Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II RN AR 3 "2-3:100,000" 2 2 1 196621008 196716634 CFL2 1073 nemaline myopathy NM AR 3 "1:50,000 in Finnish; 1:500 in Amish" 2 2 14 35179593 35184029 CFP 5199 "Properdin deficiency, X-linked" IM XL 3 UNKNOWN 4 3 X 47483612 47489704 CFTR 1080 Cystic Fibrosis RP 7q31.2 AR 2 "1:3,200 in Caucasians" 2 2 7 117105838 117356025 CHAT 1103 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 10 50817141 50901925 CHD7 55636 CHARGE Syndrome/Kallmann syndrome DV;CD 8q12.1-12.2 AD 1 "1:85,000" 1 1 8 61591337 61779465 CHM 1121 Choroideremia OC Xq21.2 XL 3 "1:50,000" 4 3 X 85116185 85302566 CHMP2B 25978 Amyotrophic Lateral Sclerosis NU AD 3 "4-8:100,000" 4 2 3 87276421 87304698 CHRNA1 1134 Congenital Myasthenic Syndrome NM AR; AD 2 "25-125:1,000,000" 1 2 2 174747592 174764472 CHRNA2 1135 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy NU AD 5 unknown 3 3 8 27317279 27337400 CHRNA4 1137 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy NU AD 5 unknown 3 3 20 63343310 63361396 CHRNB1 1140 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 17 7348380 7361026 CHRNB2 1141 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy NU AD 5 unknown 3 3 1 154540257 154552502 CHRND 1144 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 2 233390703 233401377 CHRNE 1145 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 17 4801069 4806369 CHRNG 1146 Multiple pterygium syndrome NM AR 3 UNKNOWN 1 2 2 233404437 233411113 CHST14 113189 Ehlers-Danlos syndrome musculocontractural type DV;NM AR 3 Unknown 1 2 15 40763160 40765353 CHST3 9469 Autosomal Recessive Larsen Syndrome SK AR 3 unknown 1 2 10 73724123 73773322 CLCF1 23529 Cold-Induced Sweating Syndrome including Crisponi Syndrome (CISS2) NU;DV AR 3 "unknown, rare" 1 1 11 67131639 67141648 CLCN1 1180 myotonia congenita NM AD;AR 2 "1:23,000 AD; 1:50,000 AR" 3 2 7 143316126 143352004 CLCN7 1186 Osteopetrosis SK 16p13.3 AD;AR 5 "1:100,000." 1 1 16 1494935 1525581 CLDN1 9076 "ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS" CU AR 3 UNKNOWN 2 2 3 190023490 190040264 CLDN19 149461 "Hypomagnesemia 5, renal, with ocular involvement" RN AR 3 UNKNOWN 2 2 1 43198764 43205925 CLN3 1201 Neuronal Ceroid-Lipofuscinoses NU 16p11.2 AR 3 "1.5-9:1,000,000" 1 2 16 28477983 28506896 CLN5 1203 Neuronal Ceroid-Lipofuscinoses NU 13q22.3 AR 3 "1.5-9:1,000,000" 1 2 13 77564795 77576652 CLN6 54982 Neuronal Ceroid-Lipofuscinoses NU AR 3 "1.5-9:1,000,000" 1 2 15 68499330 68549549 CLN8 2055 Neuronal Ceroid-Lipofuscinoses NU 8p23.3 AR 3 "1.5-9:1,000,000" 1 2 8 1703944 1734738 CLN9 497231 Neuronal Ceroid-Lipofuscinoses NU AR 3 "1.5-9:1,000,000" 1 2 0 0 CLRN1 7401 Usher Syndrome Type III OC;DF;DV 3q25.1 AR 3 common in Finn and AJ 2 3 3 150643950 150690786 CNGB3 54714 Achromatopsia OC 8q21.3 AR 3 "1:30,000" 1 2 8 86573935 86743675 COG1 9382 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 17 71189129 71204646 COG4 25839 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 16 70514471 70557468 COG5 10466 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 7 106842000 107204959 COG6 57511 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 13 40229764 40365802 COG7 91949 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 16 23399814 23464501 COG8 84342 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 16 69354043 69373570 COL11A2 1302 Otospondylomegaepiphyseal dysplasia SK AR 3 UNKNOWN 2 3 6 33130458 33160276 COL17A1 1308 Herliz Junctional Epidermolysis Bullosa CU AR 1 "0.37:1,000,000" 1 1 10 105791044 105845760 COL1A1 1277 "Caffey Disease, Osteogenesis Imperfecta" SK AD 5 "3:1,000" 1 2 17 50184096 50201642 COL1A2 1278 Osteogenesis Imperfecta SK 7q21.3 AD 1 "6-7:100,000" 2 2 7 94023873 94060544 COL2A1 1280 "Otospondylomegaepiphyseal dysplasia,Stickler sydrome, type I, nonsyndromic ocular" SK AR 3 UNKNOWN 2 3 12 48366748 48398269 COL4A1 1282 Autosomal Dominant Type 1 Porencephaly NU;DV AD 1 unknown 3 2 13 110801318 110959496 COL4A3 1285 Alport syndrome RN 2q36.3 AD;AR 5 "1:50,000" 2 2 2 227164565 227314792 COL4A4 1286 Alport syndrome RN 2q36_.3 AD;AR 5 "1:50,000" 2 2 2 226968916 227164559 COL4A5 1287 Alport syndrome RN Xq22_.3 XL 5 "1:50,000" 2 2 X 107683074 107940775 COL7A1 1294 Dystrophic Epidermolysis Bullosa CU 3p21.31 AD;AR 2 "6.5:1,000,000" 3 2 3 48601506 48632700 COL9A1 1297 "Multiple Epiphyseal Dysplasia, Dominant" SK;DV AD 2 "1:10,000" 2 2 6 70924764 71012786 COL9A2 1298 "Multiple Epiphyseal Dysplasia, Dominant" SK;DV AD 2 "1:10,000" 2 2 1 40766159 40783488 COL9A3 1299 "Multiple Epiphyseal Dysplasia, Dominant" SK;DV AD 2 "1:10,000" 2 2 20 62817062 62841159 COLQ 8292 "Congenital Myasthenic Syndrome,Endplate Acetylcholinesterase Deficiency" NM AR 2 "25-125:1,000,000" 1 2 3 15491640 15563258 COMP 1311 "Multiple Epiphyseal Dysplasia, Dominant" SK;DV AD 2 "1:10,000" 2 2 19 18782773 18791305 COQ2 27235 CoQ10 deficiency MB;NU AR 3 "unknown, rare" 2 2 4 84182689 84206067 CORO1A 11151 Severe combined immunodeficiency IM AR 3 UNKNOWN 2 1 16 30194148 30200397 COX10 1352 Cytochrome c oxidase deficiency MB 17p12 AR 3 "1:35,000" 2 2 17 13972813 14111994 CP 1356 Aceruloplasminemia MB 3q24-q25 AR 3 "1:2,000,000" 4 3 3 148880197 148939842 CPS1 1373 Carbamoylphosphate synthetase I deficiency MB 2q34 AR 3 "1:200,000-800,000" 1 1 2 211342406 211543831 CPT1A 1374 Carnitine Palmitoyltransferase IA Deficiency MB 11q13.3 AR 2 1.3-5.3:1000 2 2 11 68522088 68611878 CPT2 1376 Carnitine Palmitoyltransferase II Deficiency MB 1p32.3 AR 3 "unknown, rare" 3 2 1 53662101 53679869 CREBBP 1387 Rubinstein-Taybi Syndrome SK;DV AD 3 "1:100,000-125,000" 1 2 16 3775055 3930727 CRH 1392 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy NU AD 5 unknown 3 3 8 67088620 67090960 CRLF1 9244 Cold-Induced Sweating Syndrome including Crisponi Syndrome (CISS1) NU;DV AR 3 "unknown, rare" 1 1 19 18593225 18606850 CRTAP 10491 Osteogenesis Imperfecta SK AD 1 "6-7:100,000" 2 2 3 33155471 33189265 CRYAB 1410 Myofibrillar Myopathy NM AD 3 UNKNOWN 3 3 11 111779289 111794446 CSE (DYT9) 1433 Paroxysmal choreoathetosis and episodic ataxia and spasticity NU AD 3 UNKNOWN 2 2 1 0 0 CSF1R 1436 Hereditary Diffuse Leukoencephalopathy with Spheroids NU AD 1 Rare 2 2 5 149432854 149492935 CSTB 1476 Unverricht-Lundborg Disease NU AR 3 "1:20,000 in Finnland" 2 2 21 45192393 45196326 CTC1 80169 Dyskeratosis Congenita DV AR 1 Rare 1 2 17 8130191 8151362 CTDP1 9150 "Congenital Cataracts, Facial Dysmorphism, and Neuropathy" OC;NU AR 1 unknown 1 2 18 77439801 77514510 CTNS 1497 Cystinosis MB 17p13.2 AR 3 "1:100,000-200,000" 2 2 17 3539762 3564836 CTSD 1509 Neuronal Ceroid-Lipofuscinoses NU AR 3 "1.5-9:1,000,000" 1 2 11 1773982 1785222 CTSK 1513 Pycnodysostosis MB 1q21.3 AR 3 "1-1.7:1,000,000" 2 3 1 150768684 150780799 CUL7 9820 3-M syndrome DV 6p21_.1 AR 3 "unknown, rare" 1 3 6 43005355 43021683 CYBA 1535 "Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Negative" IM AR 3 "1:200,000" 2 2 16 88709691 88717560 CYBB 1536 "Chronic Granulomatous Disease, X-Linked" IM XL 3 "1:200,000" 2 2 X 37639264 37672714 CYP11A1 1583 "Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" ED AR? 3 UNKNOWN 2 3 15 74630100 74660081 CYP17A1 1586 17-hydroxylase-associated Congenital Adrenal Hyperplasia ED 10q24.32 AR 3 "1-9:1,000,000" 2 3 10 104590288 104597290 CYP1B1 1545 "Isolated Peters' anomaly,Primary Congenital Glaucoma" OC AD 3 UNKNOWN 2 2 2 38294116 38337044 CYP21A2 1589 "21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia, Classic" ED 6p21.33 AR 3 "1:15,000 overall; 1:300 in Yupik Eskimos of Alaska; 1:5,000 in Saudi Arabia; 1:10,000-1:16,000 in Europe and North America; 1:21,000 in Japan;1:23,000 in New Zealand" 1 1 6 32006042 32009447 CYP27A1 1593 Cerebrotendinous Xanthomatosis MB AR 3 "3-5:1,000,000" 2 2 2 219646472 219680016 CYP27B1 1594 "Vitamin D-dependent rickets, type I" ED AR 3 unknown 1 2 12 58156117 58162769 CYP4F22 126410 Autosomal Recessive Congenital Ichthyosis CU AR 3 "1:200,000" 1 3 19 15619304 15663128 CYP4V2 285440 Bietti Crystalline Dystrophy OC AR 3 "1:67,000, more common in East Asia" 4 3 4 187112674 187134610 D2HGDH 728294 D-2-hydroxyglutaric aciduria MB AR 3 Rare 1 1 2 242673994 242708231 DARS2 55157 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation NU AR 3 Rare 2 2 1 173793641 173827684 DBH 1621 Dopamine Beta-Hydroxylase Deficiency MB;ED AR 3 Rare 2 2 9 136501482 136524466 DBT 1629 Maple Syrup Urine Disease Type II MB 1p21.2 AR 3 "1:185,000" 1 2 1 100652475 100715390 DCLRE1C 64421 Severe Combined Immunodeficiency Athabascan IM AR 3 UNKNOWN 2 1 10 14939358 14996431 DCN 1634 Congenital Stromal Corneal Dystrophy OC AD 1 Rare 1 3 12 91539025 91576900 DCTN1 1639 Distal hereditary motor neuropathy type VIIB (HMN7B) NU AD 3 unknown 4 3 2 74588281 74619214 DCX 1641 subcortical band heterotopia/classic lissencephaly/Double cortex syndrome NU XL dominant 1 "<1:85,000 in Dutch population" 2 2 X 110537007 110655603 DDB2 1643 Xeroderma Pigmentosum CU;NU AR 3 "1:1,000,000 in US; 1:22,000 in Japan" 2 1 11 47236493 47260767 DDC 1644 Aromatic l-amino acid decarboxylase deficiency MB AR 3 RARE 1 2 7 50526134 50633154 DFNB31 25861 "USHER SYNDROME, IIC; USH2D" OC AR 1 "3.6-6.2:100,000" 1 2 9 117164360 117267730 DGUOK 1716 "Deoxyguanosine Kinase Deficiency, Isolated Hepatic Disease Form" HP AR 1 unknown 2 2 2 74153953 74186088 DHCR24 1718 DESMOSTEROLOSIS DV AR 3 Rare 1 2 1 55315306 55352891 DHCR7 1717 Smith-Lemli-Opitz Syndrome DV 11q13.4 AR 3 "1:20,000-40,000" 2 2 11 71139239 71163914 DHDDS 79947 RP OC 1p36.11 AR 1 common in AJ 2 1 1 26758773 26797785 DHH 50846 "46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis" ED 12q13_.12 AR 3 "1:20,000" 2 3 12 49483204 49488602 DKC1 1736 Dyskeratosis Congenita DV XL 1 Rare 1 2 X 153991031 154005964 DLAT 1737 Pyruvate dehydrogenase deficiency MB;NU AR 3 UNKNOWN 1 2 11 111895538 111935114 DLD 1738 "Maple Syrup Urine Disease Type III / Lipoamide Dehydrogenase Deficiency (E3),Pyruvate dehydrogenase deficiency" MB 7q31.1 AR 3 "1:185,000" 2 2 7 107531415 107572175 DLL3 10683 Spondylocostal Dysostosis (SCDO1) SK;DV AR 1 RARE 1 2 19 39989535 39999121 DMD 1756 "CARDIOMYOPATHY, DILATED, 3B; CMD3B,Dystrophinopathies" CD XL 3 unknown 3 2 X 31115794 33357558 DMP1 1758 "Hypophosphatemic rickets, AR" SK AR 3 UNKNOWN 2 2 4 88571459 88585513 DNAH11 8701 Primary Ciliary Dyskinesia RP AR 3 "1:16,000 in Norway and Japan" 1 2 7 21582833 21941457 DNAH5 1767 Primary Ciliary Dyskinesia RP AR 3 "1:16,000 in Norway and Japan" 1 2 5 13690440 13944652 DNAJC19 131118 3-Methylglutaconic Aciduria Type 5 MB 3q26.33 AR 3 rare 2 2 3 180983709 180989774 DNAJC5 80331 Neuronal Ceroid-Lipofuscinoses NU AD 3 "1.5-9:1,000,000" 1 2 20 62526518 62567384 DNAL1 83544 Primary Ciliary Dyskinesia RP AR 3 "1:16,000 in Norway and Japan" 1 2 14 74111578 74170435 DNMT1 1786 "Autosomal Dominant Cerebellar Ataxia, Deafness and Narcolepsy" NU AD 3 Rare 4 3 19 10244021 10341962 DNMT3B 1789 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 IM AR 3 UNKNOWN 2 2 20 31350191 31397162 DOCK8 81704 Autosomal Recessive Hyper IgE Syndrome IM AR 3 Rare 1 2 9 214865 465259 DOK7 285489 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 4 3465033 3503200 DOLK 22845 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 9 131707809 131709898 DPAGT1 1798 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 11 118967213 118979041 DPM1 8813 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 20 49551404 49575092 DPM3 54344 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 1 155112367 155113071 DPYD 1806 Hereditary Thymine-Uraciluria / Dihydropyrimidine Dehydrogenase Deficiency MB 1p21.3 AR 3 "8% in AA,2.8% in Caucasian" 2 2 1 97543299 98386605 DSP 1832 Skin fragility-woolly hair syndrome CU AR 3 UNKNOWN 1 2 6 7541637 7586713 DTNBP1 84062 Hermansky-Pudlak Syndrome 7 (HPS7) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 6 15523032 15663289 DYNC1H1 1778 Charcot-Marie-Tooth Neuropathy type 2O NU AD 2 unknown 3 3 14 102430865 102517129 DYNC2H1 79659 Asphyxiating thoracic dystrophy SK 11q22.3 AR 3 "1:100,000-130,000" 1 2 11 102980160 103350591 EBP 10682 "Chondrodysplasia Punctata 2, X-Linked" SK;MB XL 1 "1:400,000" 1 1 X 48379546 48387104 EDA 1896 Hypohidrotic Ectodermal Dysplasia DV XL 3 "1:5,000-10,000" 1 3 X 68835911 69259319 EDAR 10913 Hypohidrotic Ectodermal Dysplasia DV AR 3 "1:5,000-10,000" 1 3 2 109510927 109605828 EDARADD 128178 Hypohidrotic Ectodermal Dysplasia DV AR 3 "1:5,000-10,000" 1 3 1 236511562 236648214 EDN3 1908 nonsyndromic Hirschsprung Disease GI;DV AD 3 "1:5,000" 1 1 20 59300444 59325992 EDNRB 1910 nonsyndromic Hirschsprung Disease GI;DV AD 3 "1:5,000" 1 1 13 78469616 78493903 EFEMP2 30008 Cutis Laxa CU AR 3 "1:400,000" 2 2 11 65633912 65641063 EFNB1 1947 Craniofrontonasal syndrome DV;SK XL 3 unknown 1 2 X 68048840 68061990 EGR2 1959 Charcot-Marie-Tooth Neuropathy Type 4 NU AR 3 Rare 4 3 10 64571756 64679660 EHMT1 79813 Kleefstra Syndrome NU;DV AD 1 UNKNOWN 2 2 9 140513444 140764468 EIF2AK3 9451 Wolcott-Rallison syndrome MB;DV AR 3 Rare 2 2 2 88856259 88927094 EIF2B1 1967 Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter NU AR 2 Rare 3 2 12 124104953 124118313 EIF2B2 8892 Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter NU AR 2 Rare 3 2 14 75469614 75476292 EIF2B3 8891 Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter NU AR 2 Rare 3 2 1 45316450 45452282 EIF2B4 8890 Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter NU AR 2 Rare 3 2 2 27364352 27370457 EIF2B5 8893 Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter NU AR 2 Rare 3 2 3 183852826 184402546 ELANE 1991 congenital neutropenia HM AD 3 "1:200,000" 1 2 19 851014 856242 ELN 2006 Cutis Laxa CU AD 3 "1:400,000" 2 2 7 73442119 73484237 ENPP1 5167 "Arterial calcification, generalized, of infancy, 1" CD AR 3 UNKNOWN 1 1 6 132129156 132216295 EP300 2033 Rubinstein-Taybi Syndrome SK;DV AD 3 "1:100,000-125,000" 1 2 22 41487790 41576081 EPHX1 2052 Familial hypercholanemia MB AR 3 Rare 1 2 1 225997794 226033260 EPM2A 7957 "Progressive Myoclonus Epilepsy, Lafora Type" NU AR 3 UNKNOWN 2 1 6 145822719 146057160 ERBB3 2065 Lethal congenital contractural syndrome 2 DV AR 3 UNKNOWN 1 1 12 56473641 56497289 ERCC1 2067 Xeroderma Pigmentosum CU;NU AR 3 "1:1,000,000 in US; 1:22,000 in Japan" 2 1 19 45910591 45982086 ERCC2 2068 "Trichothiodystrophy, photosensitive,Xeroderma Pigmentosum/Cockayne syndrome complex" CU AR 3 "1:1,000,000" 1 2 19 45853095 45874176 ERCC3 2071 "Trichothiodystrophy, photosensitive,Xeroderma Pigmentosum/Cockayne syndrome complex" CU AR 3 "1:1,000,000" 1 2 2 128014866 128051752 ERCC4 2072 Xeroderma Pigmentosum CU;NU AR 3 "1:1,000,000 in US; 1:22,000 in Japan" 2 1 16 14014014 14046202 ERCC5 2073 Xeroderma Pigmentosum CU;NU AR 3 "1:1,000,000 in US; 1:22,000 in Japan" 2 1 13 103497194 103528345 ERCC6 2074 "Cockayne Syndrome,DeSanctis-Cacchione Syndrome" DV AR 3 "2.7:1,000,000" 2 2 10 50663414 50747584 ERCC8 1161 Cockayne Syndrome DV AR 3 "2.7:1,000,000" 2 2 5 60169658 60240900 ESCO2 157570 Roberts Syndrome SK;DV AR 3 RARE 1 1 8 27629466 27670157 ETFA 2108 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD MB AR 3 UNKNOWN 1 2 15 76507696 76603813 ETFB 2109 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD MB AR 3 UNKNOWN 1 2 19 51848423 51869672 ETFDH 2110 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD MB AR 3 UNKNOWN 1 2 4 158672101 158708713 ETHE1 23474 Ethylmalonic Encephalopathy MB 19q13.31 AR 3 mostly in Mediterranean and Arab 1 1 19 44010871 44031396 EVC 2121 Ellis-van Creveld syndrome DV AR 3 "1:60,000-200,000" 2 2 4 5712924 5830772 EVC2 132884 Ellis-van Creveld syndrome DV AR 3 "1:60,000-200,000" 2 2 4 5544499 5711275 EXOSC3 51010 Pontocerebellar Hypoplasia NU 9p13.2 AR 3 UNKNOWN 1 1 9 37766975 37801434 EXT1 2131 Hereditary Multiple Osteochondromas SK 8q24.11 AD 4 "1:100,000 in European;1:100 in Guam" 2 3 8 118806729 119124092 EXT2 2132 Hereditary Multiple Osteochondromas SK AD 4 "1:100,000 in European;1:100 in Guam" 2 3 11 44117099 44266979 EYA1 2138 branchiootorenal spectrum disorders DV 8q13.3 AD 1 "1:40,000" 2 2 8 72109668 72274467 F11 2160 FACTOR XI DEFICIENCY HM AR;AD 3 "1-9:1,000,000" 3 3 4 187187099 187210835 F5 2153 Factor V deficiency HM AR 3 "1:1,000,000" 3 2 1 169483404 169555826 F9 2158 Hemophilia B HM XL 1 "1:20,000 male birth" 3 2 X 138612917 138645617 FA2H 79152 Fatty Acid Hydroxylase-Associated Neurodegeneration NU AR 3 "<1:1,000,000" 2 2 16 74746853 74808729 FAH 2184 Tyrosinemia type 1 MB 15q25.1 AR 3 "1:100,000-200,000" 1 1 15 80444832 80479288 FAM126A 84668 Hypomyelination and Congenital Cataract NU;OC AR 1 Rare 1 2 7 22980878 23053749 FAM134B 54463 Hereditary Sensory Neuropathy NU AR 5 "30:100,000" 3 2 5 16473147 16617167 FAM20C 56975 Raine syndrome SK AR 3 UNKNOWN 1 1 7 192969 300711 FANCA 2175 Fanconi Anemia HM AR 3 "1:360,000" 2 2 16 89803957 89883065 FANCB 2187 Fanconi Anemia HM XL 3 "1:360,000" 2 2 X 14861529 14891191 FANCC 2176 Fanconi Anemia Type C HM 9q22.32 AR 3 AJ carrier freq 1:100 2 2 9 97861336 98079991 FANCD2 2177 Fanconi Anemia HM AR 3 "1:360,000" 2 2 3 10068098 10143614 FANCE 2178 Fanconi Anemia HM AR 3 "1:360,000" 2 2 6 35420138 35434880 FANCF 2188 Fanconi Anemia HM AR 3 "1:360,000" 2 2 11 22644079 22647387 FANCG 2189 Fanconi Anemia HM AR 3 "1:360,000" 2 2 9 35073832 35080013 FANCI 55215 Fanconi Anemia HM AR 3 "1:360,000" 2 2 15 89787180 89860492 FANCL 55120 Fanconi Anemia HM AR 3 "1:360,000" 2 2 2 58386378 58468507 FANCM 57697 Fanconi Anemia HM AR 3 "1:360,000" 2 2 14 45605143 45670093 FASLG 356 Autoimmune lymphoproliferative syndrome IM AD 2 "unknown, rare" 3 2 1 172628154 172636014 FBLN5 10516 Cutis Laxa CU AD 3 "1:400,000" 2 2 14 92335756 92414331 FBN1 2200 Acromicric Dysplasia SK 15q21.1 AD 3 rare 2 2 15 48700503 48938046 FBN2 2201 Congenital Contractural Arachnodactyly SK;DV;CD 5q23.3 AD 1 unknown 2 2 5 127593601 127994878 FERMT1 55612 Kindler syndrome CU AR 3 UNKNOWN 1 2 20 6055492 6104191 FGA 2243 Congenital afibrinogenemia HM AR 3 "1:1,000,000" 1 2 4 154583128 154590745 FGB 2244 Congenital afibrinogenemia HM AR 3 "1:1,000,000" 1 2 4 154562980 154572763 FGD4 121512 Charcot-Marie-Tooth Neuropathy type 4H NU AR 3 UNKNOWN 1 1 12 32552463 32798984 FGF10 2255 Lacrimo-Auriculo-Dento-Digital Syndrome DV AD 3 Rare 2 2 5 44303646 44389808 FGF3 2248 "Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia" DF;DV AR 3 Rare 2 3 11 69624992 69633792 FGF8 2253 Normosmic Isolated GnRH Deficiency ED AD 2 "1:30,000-125,000" 3 3 10 103529899 103535854 FGFR1 2260 "Normosmic Isolated GnRH Deficiency,Pfeiffer syndrome" ED AD 2 "1:30,000-125,000" 3 3 8 38411138 38468834 FGFR2 2263 "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,Apert syndrome,Pfeiffer syndrome" DV AR 3 RARE 1 1 10 123237848 123357972 FGFR3 2261 CATSHL syndrome SK;DV AD 3 Rare 2 2 4 1795034 1810599 FGG 2266 Congenital afibrinogenemia HM AR 3 "1:1,000,000" 1 2 4 154604134 154612750 FH 2271 Fumarase Deficiency MB 1q43 AR 3 rare 2 2 1 241660903 241683061 FKRP 79147 Muscle-eye-brain disease NU AR 3 prevalent in Finland 1 1 19 47249303 47280245 FKTN 2218 Walker-Warburg Syndrome NU 9q31.2 AR 1 common in AJ 2 1 9 108320411 108403399 FLCN 201163 Primary spontaneous pneumothorax RP AD 3 "7.4-18:100,000 men and 1.2-6:100,000" 3 3 17 17115526 17140502 FLNA 2316 "Periventricular Heterotopia, Ehlers-Danlos Variant" NU XL 3 Unknown 2 2 X 153576892 153603006 FLNB 2317 Atelosteogenesis Type I SK;DV AD 1 Rare 1 1 3 57994127 58157982 FLNC 2318 Myofibrillar Myopathy NM AD 3 UNKNOWN 3 3 7 128470431 128499328 FLT4 2324 Milroy Disease OT AD 5 UNKNOWN 1 2 5 180028506 180076624 FMO3 2328 Trimethylaminuria MB AR 3 carrier freq 0.5%-1% in British 2 3 1 171060018 171086959 FOXC1 2296 Isolated Peters' anomaly OC AD 3 UNKNOWN 2 2 6 1610681 1614127 FOXC2 2303 Lymphedema-Distichiasis Syndrome DV AD 4 UNKNOWN 2 2 16 86600857 86602539 FOXL2 668 "Blepharophimosis, Ptosis, and Epicanthus Inversus" OC AD 2 "1:50,000" 1 2 3 138944224 138947140 FOXN1 8456 "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" IM AR 3 UNKNOWN 1 2 17 26833261 26865914 FOXP3 50943 IPEX Syndrome IM XL 3 UNKNOWN; RARE 1 1 X 49106897 49121288 FRAS1 80144 Fraser syndrome OC;DV AR 3 Rare 1 2 4 78978724 79465423 FREM1 158326 "Bifid nose, renal agenesis, and anorectal malformation (BNAR) syndrome" DV AR 3 Rare 1 2 9 14734664 14910993 FREM2 341640 Fraser syndrome OC;DV AR 3 Rare 1 2 13 39261266 39460074 FRMD7 90167 Infantile Nystagmus OC XL 1 "<2:10,000" 1 3 X 131211021 131262048 FUCA1 2517 FUCOSIDOSIS MB AR 3 Rare 2 2 1 24171567 24194784 FUS 2521 Amyotrophic Lateral Sclerosis NU 16p11.2 AD 5 "4-8:1,000,000" 4 3 16 31191431 31203127 FZD4 8322 Familial Exudative Vitreoretinopathy OC AD 1 Rare 3 3 11 86656721 86666433 G6PC 2538 Glycogen Storage Disease Type Ia MB 17q21.31 AR 3 "1:100,000" 2 2 17 41052814 41065386 G6PC3 92579 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MB AR 3 Rare 2 2 17 42148103 42153709 G6PD 2539 Glucose-6-Phosphate Dehydrogenase Deficiency MB;HM XL 3 "common in Africa, Asia, and the Mediterranean; 1:10 in AA" 3 3 X 153759606 153775787 GAA 2548 Glycogen Storage Disease Type II / Pompe Disease MB 17q25.3 AR 3 "1:14,000 in AA;1:100,000 in European" 2 2 17 78075355 78093678 GALC 2581 Krabbe Disease MB 14q31.3 AR 3 "1:100,000" 3 2 14 88304164 88460009 GALE 2582 Generalized epimerase deficiency galactosemia MB AR 3 "1:6,700 in AA; 1:70,000 in Caucasian" 1 2 1 24122089 24127271 GALK1 2584 Galactokinase (GALK) deficiency MB 17q25.1 AR 1 "1:100,000" 2 2 17 73747675 73761792 GALNS 2588 Mucopolysaccharidosis Type IVa MB 16q24.3 AR 3 "1:76,000-640,000" 2 2 16 88880142 88923378 GALNT3 2591 Hyperphosphatemic Familial Tumoral Calcinosis MB AR 3 Rare 5 5 2 166604101 166651192 GALT 2592 Galactosemia MB 9p13.3 AR 1 "1:10,000-30,000" 2 2 9 34638130 34651032 GAMT 2593 Guanidinoacetate Methyltransferase Deficiency MB 19p13.3 AR 3 high in a small Portuguese region 2 1 19 1397091 1401569 GAN 8139 Giant Axonal Neuropathy NU AR 3 Rare 2 1 16 81348557 81424489 GARS 2617 Charcot-Marie Tooth Neuropathy Type 2D NU AD 2 unknown 3 3 7 30634297 30673649 GATA1 2623 Diamond-Blackfan Anemia HM;DV XL 5 "1:100,000-200,000" 2 2 X 48644962 48652716 GATM 2628 L-Arginine:glycine amidinotransferase (AGAT or GATM) deficiency MB AR 3 UNKNOWN 2 2 15 45653322 45694525 GBA 2629 Gaucher Disease MB 1q22 AR 2 "1:57,000;1:855 in AJ" 3 2 1 155204243 155214490 GBE1 2632 "Adult Polyglucosan Body Disease,Glycogen Storage Disease Type IV" NU 3p12_.2 AR 3 rare 4 3 3 81538850 81811312 GCDH 2639 Glutaryl-CoA Dehydrogenase Deficiency / Glutaric Acidemia Type 1 MB 19p13.2 AR 3 "1;30,000-40,000" 2 2 19 13001840 13025021 GCH1 2643 GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia NU AD 5 "0.5:1,000,000" 2 2 14 55308726 55369570 GCK 2645 Familial Hyperinsulinism MB AD 2 "1:50,000 in European" 2 2 7 44183872 44237769 GCSH 2653 Glycine Encephalopathy MB AR 3 "1:55,000 in Finland;1:63,000 in British Columbia" 2 2 16 81115566 81130008 GDAP1 54332 Charcot-Marie-Tooth Neuropathy Type 4 NU AR 3 Rare 4 3 8 75233365 75401107 GFAP 2670 Alexander Disease NU 17q21_.31 AD 2 rare 2 2 17 42982376 42994305 GFI1 2672 Congenital Neutropenia HM AD 3 "1:200,000" 1 2 1 92940319 92952433 GFM1 85476 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1 MB AR 3 UNKNOWN 1 1 3 158362067 158410364 GFPT1 2673 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 2 69546905 69614382 GJA1 2697 Hypoplastic left heart syndrome 1 CD AR 3 UNKNOWN 1 1 6 121756838 121770873 GJB2 2706 Deafness DF 13q12.11 AR 3 "14:100,000" 1 3 13 20187463 20194466 GJB6 10804 Deafness DF 13q12.11 AR 3 "14:100,000" 1 3 13 20221962 20232395 GJC2 57165 "Leukodystrophy, hypomyelinating, 2" NU AR 3 UNKNOWN 1 1 1 228337553 228347527 GLA 2717 Fabry Disease MB Xq22.1 AR 1 "1:80,00-117,000" 4 2 X 100652791 100662913 GLB1 2720 Mucopolysaccharidosis Type IVb / GM1 Gangliosidosis MB 3p22.3 AR 3 "<1:1,000,000 in Germany" 2 2 3 33038100 33138722 GLDC 2731 "Glycine Encephalopathy,Glycine Encephalopathy" MB 9p24.1 AR 3 "1:55,000 in Finland;1:63,000 in British Columbia" 2 2 9 6532464 6645692 GLE1 2733 Lethal congenital contracture syndrome Type 1 SK;DV AR 3 UNKNOWN 1 1 9 131266979 131304567 GLI3 2737 Greig Cephalopolysyndactyly Syndrome SK AD 2 Rare 1 2 7 42000548 42277469 GLIS2 84662 Nephronophthisis RN AR 3 "9:8,300,000 in US; 1:50,000 in Canada" 2 2 16 4364762 4389598 GLMN 11146 Glomuvenous malformations OT AD 3 Rare 3 3 1 92711959 92764544 GLRA1 2741 Hyperekplexia NU AD 2 UNKNOWN 1 2 5 151202074 151304403 GLRB 2743 Hyperekplexia NU AR 2 UNKNOWN 1 2 4 157997209 158093242 GLUD1 2746 Familial Hyperinsulinism MB AD 2 "1:50,000 in European" 2 2 10 88810243 88854623 GNAS 2778 McCune-Albright syndrome SK;CU;ED "AD, de novo" 3 "1:100,000-1,000,000" 2 2 20 58839740 58911195 GNE 10020 Inclusion Body Myopathy 2 NU 9p13.3 AR 2 "1:500-1,000 in Iranian Jewish" 4 3 9 36214438 36277053 GNPAT 8443 Rhizomelic chondrodysplasia punctata MB AR 3 "<1:100,000" 1 1 1 231376953 231413719 GNPTAB 79158 Mucolipidosis II MB 12q23.2 AR 3 "1:100,000-400,000" 1 1 12 102139275 102224716 GNPTG 84572 Mucolipidosis III Gamma MB;SK AR 3 RARE 2 2 16 1401924 1413352 GNRH1 2796 Normosmic Isolated GnRH Deficiency ED AR 2 "1:30,000-125,000" 3 3 8 25276776 25282170 GNRHR 2798 Normosmic Isolated GnRH Deficiency ED AR 2 "1:30,000-125,000" 3 3 4 68605046 68620078 GNS 2799 Mucopolysaccharidosis type III MB AR 3 "1:100,000-400,000" 2 1 12 65107225 65153227 GORAB 92344 Gerodermia Osteodysplastica CU;SK AR 3 Rare 1 3 1 170501270 170522587 GOSR2 9570 Progressive myoclonic epilepsy 6 (EMP6) NU AR 3 UNKNOWN 1 2 17 45000483 45105003 GP1BA 2811 Bernard-Soulier syndrome Type A HM AR 3 Rare 1 2 17 4835592 4838325 GP1BB 2812 Bernard-Soulier syndrome Type B HM AR 3 Rare 1 2 22 19701987 19712295 GP9 2815 Bernard-Soulier syndrome Type C HM AR 3 Rare 1 2 3 128779610 128781249 GPC3 2719 Simpson-Golabi-Behmel Syndrome Type 1 DV;NU XL 1 UNKNOWN 1 2 X 132669773 133119922 GPC4 2239 Simpson-Golabi-Behmel Syndrome Type 1 DV;NU XL 1 UNKNOWN 1 2 X 132434131 132549518 GPHN 10243 Hyperekplexia NU (not stated) 2 UNKNOWN 1 2 14 66974125 67648520 GPR143 4935 "Ocular Albinism, X-Linked" OC;CU XL 3 "1:50,000 male" 1 3 X 9693386 9754337 GPR56 9289 Bilateral frontoparietal polymicrogyria DV;NU AR 3 unknown 1 2 16 57644564 57698944 GPR98 84059 "USHER SYNDROME, IIC; USH2C" OC AR 1 "3.6-6.2:100,000" 1 2 5 89825161 90460038 GRHPR 9380 Primary Hyperoxaluria Type 2 MB 9p13.2 AR 3 "1:1,000,000" 2 2 9 37422663 37436987 GRIP1 23426 Fraser syndrome OC;DV AR 3 Rare 1 2 12 66741211 67197966 GSS 2937 Glutathione Synthetase Deficiency HM;MB 20q11.22 AR 3 Rare 3 2 20 33516236 33543620 GTF2H5 404672 "Trichothiodystrophy, photosensitive" CU AR 3 "1:1,000,000" 1 2 6 158589384 158620376 GUCY2D 3000 Leber Congenital Amaurosis OC AD 3 "2-3:100,000" 2 2 17 7905912 7923657 GUSB 2990 Mucopolysaccharidosis Type VII MB 7q11.21 AR 3 "1:250,000" 2 1 7 65425671 65447301 HADH 3033 Familial Hyperinsulinism MB AR 2 "1:50,000 in European" 2 2 4 108910870 108956331 HADHA 3030 "Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency,Trifunctional protein deficiency" MB 2p23.3 AR 3 "1:62,000 in Finland" 2 1 2 26413504 26467594 HADHB 3032 Trifunctional protein deficiency MB AR 3 RARE 2 2 2 26466038 26513336 HAMP 57817 Hereditary Hemochromatosis MB;HM AR 5 1/3 carrier freq in European 4 2 19 35771619 35776046 HAX1 10456 Congenital Neutropenia HM AR 3 "1:200,000" 1 2 1 154244987 154248351 HBA1 3039 Alpha-Thalassemia HM AR 3 some forms are common 2 2 16 222846 223709 HBA2 3039 Alpha-Thalassemia HM AR 3 some forms are common 2 2 16 222846 223709 HBB 3043 Beta Thalassemia / Sickle Cell Disease HM 11p15.4 AR 3 ">10% in Mediterranean, Middle East, Southeast Asia" 3 2 11 5246694 5250625 HCCS 3052 Microphthalmia with Linear Skin Defects Syndrome OC;CU XL 3 UNKNOWN 1 2 X 11129421 11141198 HEPACAM 220296 Megalencephalic Leukoencephalopathy With Subcortical Cysts NU AR 3 RARE 2 2 11 124789089 124806308 HES7 84667 Spondylocostal Dysostosis (SCDO4) SK;DV AR 1 RARE 1 2 17 8023908 8027410 HESX1 8820 Combined Pituitary Hormone Deficiency ED AD 1 "1:8,000" 2 3 3 57231944 57260549 HEXA 3073 Tay-Sachs Disease / Hexosaminidase A Deficiency MB 15q23 AR 3 "1:3,600 in AJ" 2 2 15 72635775 72668817 HEXB 3074 Sandhoff Disease MB 5q13.3 AR 3 RARE 2 1 5 73935848 74018472 HFE 3077 Hereditary Hemochromatosis MB;HM 6p22.2 AR 5 1/3 carrier freq in European 4 2 6 26087509 26098571 HFE2 148738 Hereditary Hemochromatosis MB;HM AR 5 1/3 carrier freq in European 4 2 1 145413095 145417545 HGD 3081 Alkaptonuria MB 3q13.33 AR 1 "1:250,000-1,000,000 in US; 1:19,000 in Slovakia" 4 3 3 120347020 120401418 HGSNAT 138050 Mucopolysaccharidosis type III MB AR 3 "1:100,000-400,000" 2 1 8 42995556 43057998 HIBCH 26275 BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY MB AR 3 UNKNOWN 1 1 2 191054461 191208919 HLCS 3141 Holocarboxylase Synthetase Deficiency MB 21q22.13 AR 3 "1:87,000" 2 1 21 38123189 38362536 HMBS 3145 Acute intermittent porphyria MB 11q23_.3 AD 5 "5.9:1,000,000" 4 2 11 118955576 118964259 HMGCL 3155 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency MB 1p36.11 AR 3 "1:100,000?" 1 1 1 24128375 24165110 HOXA13 3209 Guttmacher syndrome DV AD 3 Rare 1 2 7 27233122 27239725 HPRT1 3251 Lesch-Nyhan Syndrome NU;MB XL 3 "1:380,000" 1 2 X 133594183 133654543 HPS1 3257 Hermansky-Pudlak Syndrome 1 (HPS1) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 10 100175955 100206684 HPS3 84343 Hermansky-Pudlak Syndrome 3 (HPS3) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 3 148847371 148891519 HPS4 89781 Hermansky-Pudlak Syndrome 4 (HPS4) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 22 26839389 26879803 HPS5 11234 Hermansky-Pudlak Syndrome 5 (HPS5) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 11 18300223 18343745 HPS6 79803 Hermansky-Pudlak Syndrome 6 (HPS6) DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 10 103825147 103827792 HRAS 3265 Costello Syndrome DV;CD AD 1 Rare 1 2 11 532242 537287 HSD17B10 3028 "17-beta-hydroxysteroid dehydrogenase type 10 deficiency,Mental retardation, X-linked syndromic 10" NU XL dominant 3 UNKNOWN 2 2 X 53458206 53461320 HSD17B3 3293 17-beta hydroxysteroid dehydrogenase 3 deficiency ED 9q22.32 AR 3 "1:147,000; 1:200-300 in Arab" 2 3 9 98997588 99064434 HSD17B4 3295 D-Bifunctional Protein Deficiency MB 5q23.1 AR 3 unknown 1 1 5 118788138 118972894 HSD3B2 3284 3-hydroxysteroid dehydrogenase (3_-HSD)-associated Congenital Adrenal Hyperplasia ED 1p13.1 AR 3 "<1:1,000,000" 2 3 1 119957554 119965658 HSPG2 3339 "Dyssegmental dysplasia, Silverman-Handmaker type" SK AR 3 Unknown 1 1 1 22148738 22263790 HTRA1 5654 CARASIL NU AR 3 Rare 4 2 10 124221041 124274424 HYLS1 219844 HYDROLETHALUS SYNDROME 1 DV AR 3 "1:20,000 in Finnland" 1 1 11 125753509 125770543 ICOS 29851 Common Variable Immune Deficiency IM AR 3 "1:30,000" 2 2 2 204801471 204826300 IDS 3423 Mucopolysaccharidosis Type II / Hunter Syndrome MB Xq28 XL 1 "1:100,000-170,000" 2 1 X 148558521 148615470 IDUA 3425 Mucopolysaccharidosis Type I / Hurler Syndrome MB 4p16.3 AR 3 "1:100,000" 1 1 4 980785 998316 IFT80 57560 Jeune asphyxiating thoracic dystrophy SK AR 3 "1:100,000-130,000" 1 1 3 159974774 160117668 IGBP1 3476 Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia DV XL 3 Rare 1 1 X 69353299 69386174 IGF1 3479 INSULIN-LIKE GROWTH FACTOR I DEFICIENCY ED AR 3 Rare 1 2 12 102789645 102874423 IGHMBP2 3508 Spinal muscular atrophy with respiratory distress type 1 NM AR 3 UNKNOWN 1 1 11 68671310 68708070 IKBKAP 8518 Familial Dysautonomia NU 9q31.3 AR 3 "1:3,700 in AJ" 2 1 9 111629797 111696396 IKBKG 8517 Anhidrotic ectodermal dysplasia with immune deficiency IM XL 3 "1:250,000" 1 1 X 153769414 153796782 IL2RA 3559 Interleukin 2 Receptor Alpha Chain Deficiency IM AR 3 Rare 1 2 10 6052652 6104288 IL2RG 3561 X-Linked Severe Combined Immunodeficiency IM Xq13.1 XL 3 "1:50,000-100,000" 2 1 X 70327254 70331958 IL7R 3575 Severe Combined Immunodeficiency IM AR 3 UNKNOWN 2 1 5 35852797 35879705 INPP5E 56623 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 9 139323071 139334274 INSR 3643 DONOHUE SYNDROME ED AR 3 Unknown 1 1 19 7112266 7294045 INVS 27130 Nephronophthisis RN 9q31.1 AR 3 "9:8,300,000 in US; 1:50,000 in Canada" 2 2 9 102861538 103063282 IQCB1 9657 Nephronophthisis RN AR 3 "9:8,300,000 in US; 1:50,000 in Canada" 2 2 3 121488610 121553926 ISCU 23479 Myopathy with Deficiency of ISCU NM AR 3 carrier freq 1:188 in northern Sweden 3 3 12 108956358 108963160 ITGA6 3655 Epidermolysis Bullosa with Pyloric Atresia CU AR 1 Rare 1 1 2 173292082 173371181 ITGB4 3691 Epidermolysis Bullosa with Pyloric Atresia CU AR 1 Rare 1 1 17 73717408 73753899 IVD 3712 Isovaleric Acidemia MB 15q15.1 AR 3 "1:250,000 in US" 2 2 15 40697686 40728146 JAG1 182 Alagille Syndrome DV 20p12.2 AD 2 "1:30,000-50,000" 3 2 20 10618332 10654694 JAK3 3718 Severe Combined Immunodeficiency IM AR 3 UNKNOWN 2 1 19 17935589 17958880 KAL1 3730 Kallmann syndrome ED Xp22.31 XL 1 "1:30,000 male 1:125,000 female in Finland" 2 3 X 8496915 8700227 KBTBD13 390594 nemaline myopathy NM AD 3 "1:50,000 in Finnish; 1:500 in Amish" 2 2 15 65369154 65372276 KCNA1 3736 Episodic Ataxia type 1 NM AD 2 "1:500,000" 3 2 12 5019071 5040527 KCNE1 3753 Jervell and Lange-Nielsen Syndrome CD;DF AR 1 "1:200,000" 2 2 21 35818988 35884573 KCNJ1 3758 "BARTTER SYNDROME, ANTENATAL, 2" RN AR 3 "1:1,000,000, more common in Costa Rica and Kuwait" 1 2 11 128706210 128737268 KCNJ11 3767 Familial Hyperinsulinism MB 11p15.1 AR 2 "1:50,000 in European" 2 2 11 17407406 17410878 KCNJ13 3769 Leber Congenital Amaurosis OC ? 3 "2-3:100,000" 2 2 2 233631174 233641278 KCNQ1 3784 Jervell and Lange-Nielsen Syndrome CD;DF AR 1 "1:200,000" 2 2 11 2465914 2870339 KCTD7 27342 Neuronal Ceroid-Lipofuscinoses NU AR 3 "1.5-9:1,000,000" 1 2 7 66147151 66276451 KIAA0196 9897 Spastic Paraplegia 8 NU AD 4 "4% X 1-18:100,000" 4 2 8 126036502 126104082 KIAA1279 26128 Goldberg-Shprintzen syndrome DV AR 3 Rare 2 2 10 70748487 70776738 KIF1A 547 Hereditary Sensory Neuropathy NU AR 5 "30:100,000" 3 2 2 241653181 241759725 KIF21A 55605 Congenital Fibrosis of the Extraocular Muscles OC AD 2 "1:230,000" 1 2 12 39687030 39837192 KIF7 374654 Joubert Syndrome NU 15q26.1 AR 3 "1:80,000-100,000" 1 1 15 90152020 90198682 KISS1R 84634 Normosmic Isolated GnRH Deficiency ED AR 2 "1:30,000-125,000" 3 3 19 917287 921015 KRAS 3845 Cardiofaciocutaneous Syndrome CD;CU;DV AD 1 "unknown, rare" 1 2 12 25357723 25403870 KRT14 3861 Epidermolysis Bullosa Simplex CU 17q21.2 AD 1 "1:30,000-50,000" 1 2 17 39738531 39743173 KRT16 3868 "Focal Non-Epidermolytic Palmoplantar Keratoderma,Pachyonychia Congenita" CU (not stated) 3 Rare 2 2 17 39766030 39772151 KRT17 3872 Pachyonychia Congenita CU AD 1 UNKNOWN 2 2 17 39775689 39781094 KRT18 3875 "Cirrhosis, cryptogenic" HP AR 3 UNKNOWN 1 2 12 53342655 53346685 KRT5 3852 Epidermolysis Bullosa Simplex CU 12q13.13 AD 1 "1:30,000-50,000" 1 2 12 52908359 52914471 KRT6A 3853 Pachyonychia Congenita CU AD 1 UNKNOWN 2 2 12 52880958 52887041 KRT6B 3854 Pachyonychia Congenita CU AD 1 UNKNOWN 2 2 12 52840435 52845910 KRT6C 286887 Focal Non-Epidermolytic Palmoplantar Keratoderma CU (not stated) 3 Rare 2 2 12 52862300 52867569 KRT8 3856 "Cirrhosis, cryptogenic" HP AR 3 UNKNOWN 1 2 12 53290977 53343738 L1CAM 3897 L1 Syndrome NU;DV XL 3 "1:30,000" 1 2 X 153126969 153174677 LAMA2 3908 congenital muscular dystrophy NM 6q22.3 AR 2 "0.7-2.5:100,000" 2 1 6 129204342 129837714 LAMA3 3909 Herliz Junctional Epidermolysis Bullosa CU 18q11.2 AR 1 "0.37:1,000,000" 1 1 18 21269407 21535030 LAMB2 3913 Pierson syndrome RN AR 3 UNKNOWN 1 2 3 49158547 49170551 LAMB3 3914 Herliz Junctional Epidermolysis Bullosa CU 1q32.2 AR 1 "0.37:1,000,000" 1 1 1 209788215 209825811 LAMC2 3918 Herliz Junctional Epidermolysis Bullosa CU 1q25.3 AR 1 "0.37:1,000,000" 1 1 1 183155373 183214035 LAMP2 3920 Danon disease CD;NM XL 3 Rare 2 1 X 119561682 119603220 LARGE 9215 "MUSCULAR DYSTROPHY, CONGENITAL, 1D" NM AR 3 UNKNOWN 1 2 22 33558212 34318829 LBR 3930 HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA SK;DV AR 3 Rare 1 1 1 225589204 225616627 LCA5 167691 Leber Congenital Amaurosis OC AR 3 "2-3:100,000" 2 2 6 80194708 80247175 LEPRE1 64175 Osteogenesis Imperfecta SK AD 1 "6-7:100,000" 2 2 1 43212006 43232755 LFNG 3955 Spondylocostal Dysostosis (SCDO3) SK;DV AR 1 RARE 1 2 7 2552163 2568811 LGI1 9211 Autosomal Dominant Partial Epilepsy with Auditory Features NU AD 5 Rare 3 3 10 95517566 95557916 LHX3 8022 "Pituitary Hormone Deficiency, combined" ED AR 3 UNKNOWN 2 2 9 139088096 139096955 LHX4 89884 Combined Pituitary Hormone Deficiency ED AD 1 "1:8,000" 2 3 1 180199421 180249380 LIFR 3977 Stuve-Wiedemann syndrome SK;DV AR 3 UNKNOWN 1 1 5 38475065 38608456 LMBRD1 55788 Disorders of Intracellular Cobalamin Metabolism (cblF) MB AR 3 "1:37,000-100,000" 3 2 6 70385694 70507003 LMNA 4000 "Hutchinson-Gilford Progeria Syndrome,Restrictive dermopathy, lethal" DV AD 1 "1:4,000,000-8,000,000" 2 2 1 156052364 156109880 LMX1B 4010 Nail-Patella Syndrome DV AD 1 ">1:50,000" 1 2 9 129376722 129463311 LPIN2 9663 Majeed Syndrome HM AR 1 Rare 1 2 18 2916992 3013313 LPL 4023 Familial Lipoprotein Lipase Deficiency MB AR 3 "1:1,000,000" 2 2 8 19759228 19824769 LRP2 4036 Donnai-Barrow Syndrome DV AR 3 Rare 2 2 2 169983619 170219195 LRP5 4041 Autosomal dominant osteopetrosis type 1 SK AD 3 Rare 2 3 11 68080077 68216743 LRPPRC 10128 "Leigh Syndrome, French-Canadian Type" MB AR 3 "1:2,000 in Quebec" 1 2 2 44113647 44223144 LTBP2 4053 Primary Congenital Glaucoma OC AR 2 "1:5,000-22,000" 1 2 14 74964873 75079306 LTBP4 8425 Cutis Laxa CU AR 3 "1:400,000" 2 2 19 41098789 41135725 LYST 1130 Chediak-Higashi Syndrome OC;IM;HM 1q42_.3 AR 3 "unknown, rare" 3 2 1 235824341 236046940 MAGT1 84061 Congenital Disorders of Glycosylation MB XL 3 "1:20,000" 1 2 X 77081861 77151090 MAN2B1 4125 Alpha-Mannosidosis MB 19p13.2 AR 3 "1:300,000-500,000" 2 2 19 12757325 12777556 MAP2K1 5604 Cardiofaciocutaneous Syndrome CD;CU;DV AD 1 "unknown, rare" 1 2 15 66679155 66784650 MAP2K2 5605 Cardiofaciocutaneous Syndrome CD;CU;DV AD 1 "unknown, rare" 1 2 19 4090319 4124126 MAPK10 5602 Lennox-Gastaut syndrome NU AD 3 "1-5:10,000" 2 2 4 86936276 87515284 MAPT 4137 MAPT-associated motor neuron disease NU AD 5 UNKNOWN 4 3 17 43971748 44105700 MATN3 4148 "Multiple Epiphyseal Dysplasia, Dominant" SK;DV AD 2 "1:10,000" 2 2 2 20191872 20212455 MATR3 9782 Distal myopathy with vocal cord and pharyngeal signs (MPD2) NM AD 3 UNKNOWN 4 3 5 138609441 138667360 MCCC1 56922 "3-methylcrotonyl-CoA carboxylase deficiency,Biotin-unresponsive" MB 3q27.1 AR 3 "1:36,000" 2 2 3 182733006 182833863 MCCC2 64087 "3-methylcrotonyl-CoA carboxylase deficiency,Biotin-unresponsive" MB 5q13.2 AR 3 "1:36,000" 2 2 5 70883115 70954531 MCEE 84693 Methylmalonic Acidemia MB 2p13.3 AR 3 "1:50,000-100,000" 2 2 2 71336814 71357369 MCOLN1 57192 Mucolipidosis IV MB 19p13.2 AR 3 carrier freq 1:100-127 in AJ 1 1 19 7587512 7598895 MCPH1 79648 Primary Autosomal Recessive Microcephaly SK;DV AR 3 "1:30,000-250,000" 1 2 8 6264113 6501144 MECP2 4204 Rett syndrome NU Xq28 XL 2 "1:85,000" 2 2 X 153287024 153363212 MED12 9968 "FG Syndrome Type 1,Lujan Syndrome" NU Xq13.1 XL 1 "1:1,000?" 1 2 X 70338406 70362303 MEFV 4210 Familial Mediterranean Fever IM 16p13.3 AR 2 mostly in Mediterranean region 3 4 16 3292028 3306627 MEN1 4221 Multiple Endocrine Neoplasia Type 1 ED AD 5 "1:30,000" 3 2 11 64570982 64578766 MESP2 145873 Spondylocostal Dysostosis (SCDO2) SK;DV AR 1 RARE 1 2 15 90303822 90321982 MFN2 9927 Charcot-Marie-Tooth Neuropathy Type 2 NU AR 2 "1:10,000" 3 3 1 12040238 12073571 MFSD8 256471 Neuronal Ceroid-Lipofuscinoses NU AR 3 "1.5-9:1,000,000" 1 2 4 128838960 128887150 MGAT2 4247 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 14 50087489 50090198 MID1 4281 Opitz G/BBB Syndrome DV Xp22.2 XL 2 "1:50,000-100,000 males" 1 2 X 10413350 10851773 MKKS 8195 McKusick-Kaufman Syndrome DV AR 4 common in Amish 1 2 20 10381657 10414870 MKS1 54903 Meckel syndrome DV 17q22 AR 3 "1:12,250-140000; 1:9,000 in Finland; 1:3,000 in Belgium" 1 1 17 56282803 56296966 MLC1 23209 Megalencephalic Leukoencephalopathy With Subcortical Cysts NU 22q13.33 AR 3 RARE 2 2 22 50497820 50524331 MLL2 8085 Kabuki Syndrome DV AD 1 "1:32,000 in Japan; 1:86,000 in Australia/New Zealand" 2 2 12 49412758 49453557 MLPH 79083 Griscelli syndrome NU AR 3 Rare 1 2 2 238394071 238463961 MMAA 166785 Methylmalonic Acidemia MB 4q31.21 AR 3 "1:50,000-100,000" 2 2 4 146539415 146581187 MMAB 326625 Methylmalonic Acidemia MB 12q24.11 AR 3 "1:50,000-100,000" 2 2 12 109991542 110011679 MMACHC 25974 Methylmalonic Acidemia MB 1p34.1 AR 3 "1:50,000-100,000" 2 2 1 45965725 45976739 MMADHC 27249 Disorders of Intracellular Cobalamin Metabolism (cblD variant 1) MB AR 3 "1:37,000-100,000" 3 2 2 150426148 150444330 MOCS1 4337 Molybdenum cofactor deficiency A NU AR 3 UNKNOWN 1 1 6 39867354 39902290 MOGS 7841 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 2 74688184 74692537 MPDU1 9526 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 17 7486847 7496107 MPI 4351 Congenital Disorders of Glycosylation MB 15q24.1 AR 3 "1:20,000" 1 2 15 75182346 75191798 MPL 4352 Congenital Amegakaryocytic Thrombocytopenia HM 1p34.2 AR 3 Rare 2 1 1 43803478 43818443 MPV17 4358 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) NU AR 3 RARE 2 2 2 27532360 27548547 MPZ 4359 Charcot-Marie-Tooth Neuropathy Type 2 NU AD 2 "1:10,000" 3 3 1 161274525 161279762 MRPS16 51021 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2; COXPD2 MB AR 3 UNKNOWN 1 1 10 75006510 75012451 MRPS22 56945 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5 MB AR 3 UNKNOWN 1 1 3 138724648 139076065 MSX2 4488 Enlarged Parietal Foramina/Cranium Bifidum SK AD 4 "1:15,000-50,000" 1 4 5 174151536 174157896 MTHFR 4524 "HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE" MB AR 3 UNKNOWN 3 2 1 11845780 11866977 MTM1 4534 X-Linked Centronuclear Myopathy NM Xq28 XL 1 "1:50,000 in males" 2 2 X 149737069 149841795 MTR 4548 "homocystinuria, cblG-complementation group" MB 1q43 AR 3 Rare 2 2 1 236958610 237067281 MTRR 4552 Disorders of Intracellular Cobalamin Metabolism (cblE) MB AR 3 "1:37,000-100,000" 3 2 5 7851299 7906138 MTTP 4547 ABETALIPOPROTEINEMIA MB AR 3 RARE 1 2 4 100484918 100545156 MUSK 4593 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 9 113431051 113563859 MUT 4594 Methylmalonic Acidemia MB 6p12.3 AR 3 "1:50,000-100,000" 2 2 6 49398073 49430904 MUTYH 4595 Colorectal Adenomatous Polyposis GI AR 2 "1:20,000-40,000" 4 2 1 45794835 45806142 MVK 4598 Mevalonic aciduria MB AR 3 UNKNOWN 1 2 12 110011060 110035067 MYCN 4613 Feingold Syndrome 1 SK;DV AD 1 Rare 1 3 2 16080686 16087129 MYH11 4629 Thoracic Aortic Aneurysms and Aortic Dissections CD AD 5 COMMON 3 2 16 15797029 15950890 MYH3 4621 Distal Arthrogryposis Type 2A (Freeman-Sheldon Syndrome) DV AD;AR 3 Rare 1 2 17 10531843 10560626 MYH7 4625 "Congenital Fiber-Type Disproportion,Myosin Storage Myopathy" NM AD 3 "unknown, rare" 1 2 14 23881947 23904927 MYLK 4638 Thoracic Aortic Aneurysms and Aortic Dissections CD AD 5 COMMON 3 2 3 123328896 123603178 MYO5A 4644 "ELEJALDE DISEASE,Griscelli syndrome" NU AR 3 Rare 1 1 15 52599480 52821247 MYO7A 4647 Usher Syndrome Type I DF AR 1 "3.6-6.2:100,000" 1 2 11 76839310 76926284 MYOT 9499 Myofibrillar Myopathy NM AD 3 UNKNOWN 3 3 5 137203480 137223540 NAGA 4668 Schindler disease MB;NU AR 3 RARE 3 2 22 42454358 42466846 NAGLU 4669 Mucopolysaccharidosis type III MB 17q21.2 AR 3 "1:100,000-400,000" 2 1 17 40688190 40696467 NAGS 162417 N-acetylglutamate synthase deficiency MB AR 3 RARE 1 2 17 42081914 42086431 NBN 4683 Nijmegen Breakage Syndrome IM 8q21.3 AR 3 "1:100,000" 1 1 8 90945564 91015456 NCF1 653361 "Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type I" IM AR 3 "1:200,000" 2 2 7 74188309 74203659 NCF2 4688 "Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type II" IM AR 3 "1:200,000" 2 2 1 183524698 183560011 NCF4 4689 "Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type III" IM AR 3 "1:200,000" 2 2 22 37257030 37274057 NDP 4693 Coats disease OC XL 1 unknown 1 2 X 43808022 43832750 NEB 4703 nemaline myopathy NM 2q23.3 AR 3 "1:50,000 in Finnish; 1:500 in Amish" 2 2 2 152341850 152591001 NEK8 284086 Nephronophthisis RN AR 3 "9:8,300,000 in US; 1:50,000 in Canada" 2 2 17 27052915 27070473 NEU1 4758 NEURAMINIDASE DEFICIENCY MB AR 3 UNKNOWN 1 2 6 31825436 31830683 NEUROG3 50674 Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells GI AR 3 Rare 1 2 10 71331454 71332994 NGF 4803 Hereditary Sensory Neuropathy NU AR 5 "30:100,000" 3 2 1 115828539 115880857 NHLRC1 378884 "Progressive Myoclonus Epilepsy, Lafora Type" NU AR 3 UNKNOWN 2 1 6 18120718 18122851 NHP2 55651 Dyskeratosis Congenita DV AR 1 Rare 1 2 5 177576461 177580968 NIPAL4 348938 Autosomal Recessive Congenital Ichthyosis CU AR 3 "1:200,000" 1 3 5 156887027 156901725 NIPBL 25836 Cornelia de Lange Syndrome DV;SK AD 2 "1-10:100,000" 1 2 5 36876861 37066515 NKX2-1 7080 Benign hereditary chorea NU AD 3 unknown 2 3 14 36985602 36990354 NLRP3 114548 "Chronic infantile neurologic, cutaneous, and articular (CINCA) syndrome" NU;CU;DF AD 3 Rare 1 2 1 247579458 247612410 NOP10 55505 Dyskeratosis Congenita DV AR 1 Rare 1 2 15 34633917 34635378 NOTCH2 4853 Alagille Syndrome DV 1p12-p11.2 AD 1 "1:30,000-50,000" 3 2 1 120454176 120612240 NOTCH3 4854 CADASIL NU AD 1 "1.98:100,000" 4 3 19 15270444 15311792 NPC1 4864 Niemann Pick Disease Type C MB 18q11.2 AR 3 "1:150,000" 2 2 18 21086148 21166862 NPC2 10577 Niemann Pick Disease Type C MB 14q24.3 AR 3 "1:150,000" 2 2 14 74942895 74960880 NPHP1 4867 Nephronophthisis RN AR 3 "9:8,300,000 in US; 1:50,000 in Canada" 2 2 2 110879888 110962643 NPHP3 27031 Nephronophthisis RN AR 3 "9:8,300,000 in US; 1:50,000 in Canada" 2 2 3 132276986 132441303 NPHP4 261734 Nephronophthisis RN AR 3 "9:8,300,000 in US; 1:50,000 in Canada" 2 2 1 5922871 6052533 NPHS1 4868 Congenital Finnish Nephrosis RN 19q13.12 AR 3 "1:8,000 in Finland" 1 1 19 36316866 36360189 NPHS2 7827 Steroid-Resistant Nephrotic Syndrome RN 1q25.2 AR 2 UNKNOWN 3 2 1 179519674 179545087 NR0B1 190 Adrenal hypoplasia DV Xp21.2 XL 3 "1:12,500" 2 1 X 30322323 30327715 NR3C2 4306 Pseudohypoaldosteronism type 1 RN AR 3 "1:80,000" 1 2 4 148999913 149365850 NR5A1 2516 "46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis." ED 9q33_.3 AD 3 "1:20,000" 2 3 9 127243516 127269709 NSDHL 50814 CHILD Syndrome CU;SK;DV XLD 1 unknown 2 2 X 151999511 152038273 NTRK1 4914 Hereditary Sensory Neuropathy NU AR 5 "30:100,000" 3 2 1 156785432 156851642 NUP62 23636 "Striatonigral degeneration, infantile" NU AR 3 UNKNOWN 1 2 19 50410082 50433020 OBSL1 23363 3-M syndrome DV 2q35 AR 3 "unknown, rare" 1 3 2 220415451 220436581 OCA2 4948 Oculocutaneous Albinism Type 2 OC;CU AR 3 "1:38,000-40,000" 2 3 15 27754875 28099337 OCRL 4952 Lowe Syndrome OC;NU;RN XL 1 "<1:100,000" 2 2 X 128673826 128726538 OFD1 8481 Joubert Syndrome NU XL 3 "1:80,000-100,000" 1 1 X 13752832 13787480 OPA3 80207 Costeff Optic Atrophy Syndrome MB 19q13.32 AR 3 common in Iraq Jews 2 2 19 46030685 46105470 OSTM1 28962 Osteopetrosis SK AD;AR 5 "1:100,000." 1 1 6 108362613 108487058 OTC 5009 Ornithine-Transcarbamylasei-Deficiency MB Xp11.4 XL 1 "1:14,000-77,000" 1 2 X 38211798 38280703 PAH 5053 Phenylketonuria MB 12q23.2 AR 3 "1:2,600-200,000 in European" 2 2 12 103230663 103352188 PALB2 79728 Fanconi Anemia HM AR 3 "1:360,000" 2 2 16 23614488 23652631 PAX2 5076 Renal Coloboma Syndrome RN;OC AD 2 UNKNOWN 2 2 10 102495360 102589698 PAX6 5080 "Aniridia,Isolated Peters' anomaly" OC AD 1 "1:40,000-100,000" 2 2 11 31806340 31839509 PC 5091 Pyruvate Carboxylase Deficiency MB AR 3 "1:250,000" 3 2 11 66615704 66725847 PCCA 5095 Propionic Acidemia MB 13q32.3 AR 3 "1:50,000-100,000" 2 2 13 100741269 101182686 PCCB 5096 Propionic Acidemia MB 3q22.3 AR 3 "1:50,000-100,000" 2 2 3 135969148 136056738 PCDH15 65217 Usher Syndrome Type 1F OC;DF;DV 10q21.1 AR 3 common in AJ 2 3 10 55562531 57387702 PDHA1 5160 "LEIGH SYNDROME, XLR,Pyruvate dehydrogenase deficiency" NU XL 3 UNKNOWN 2 2 X 19362011 19379823 PDHB 5162 Pyruvate dehydrogenase deficiency MB;NU AR 3 UNKNOWN 1 2 3 58413357 58419584 PDHX 8050 Pyruvate dehydrogenase deficiency MB;NU AR 3 UNKNOWN 1 2 11 34937376 35042138 PDP1 54704 Pyruvate dehydrogenase deficiency MB;NU AR 3 UNKNOWN 1 2 8 94870035 94938294 PDSS1 23590 CoQ10 deficiency MB;NU AR 3 "unknown, rare" 2 2 10 26986588 27035727 PDSS2 57107 CoQ10 deficiency MB;NU AR 3 "unknown, rare" 2 2 6 107473761 107780768 PEX1 5189 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 7q21.2 AR 3 "1:50,000" 2 2 7 92116334 92157845 PEX10 5192 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 1p36.32 AR 3 "1:50,000" 2 2 1 2336236 2345236 PEX12 5193 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 17q12 AR 3 "1:50,000" 2 2 17 33901814 33905882 PEX13 5194 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB AR 3 "1:50,000" 2 2 2 61244360 61279125 PEX14 5195 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB AR 3 "1:50,000" 2 2 1 10532345 10690815 PEX16 9409 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB AR 3 "1:50,000" 2 2 11 45931220 45940363 PEX19 5824 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB AR 3 "1:50,000" 2 2 1 160246602 160256138 PEX2 5828 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 8q21.1 AR 3 "1:50,000" 2 2 8 77892494 77913280 PEX26 55670 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 22q11.21 AR 3 "1:50,000" 2 2 22 18560689 18613905 PEX3 8504 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB AR 3 "1:50,000" 2 2 6 143771944 143811147 PEX5 5830 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 12p13.31 AR 3 "1:50,000" 2 2 12 7341281 7371170 PEX6 5190 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 6p21.1 AR 3 "1:50,000" 2 2 6 42931608 42946958 PEX7 5191 "Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum" MB 6q23.3 AR 3 "1:50,000" 2 2 6 137143717 137235075 PHF6 84295 Borjeson-Forssman-Lehmann syndrome DV XL 3 Rare 1 2 X 133507283 133562820 PHKA1 5255 Phosphorylase Kinase Deficiency MB XL 2 "1:100,000" 1 2 X 71798664 71934167 PHKA2 5256 Phosphorylase Kinase Deficiency MB XL 2 "1:100,000" 1 2 X 18910418 19002716 PHKB 5257 Phosphorylase Kinase Deficiency MB AR 2 "1:100,000" 1 2 16 47495034 47735434 PHKG2 5261 Phosphorylase Kinase Deficiency MB AR 2 "1:100,000" 1 2 16 30759591 30772490 PHOX2A 401 Congenital Fibrosis of the Extraocular Muscles OC AR 2 "1:230,000" 1 2 11 71950121 71956708 PHOX2B 8929 Congenital Central Hypoventilation Syndrome RP;DV AD 2 unknown 1 2 4 41746099 41750987 PITX2 5308 Isolated Peters' anomaly OC AD 3 UNKNOWN 2 2 4 111538579 111563279 PKHD1 5314 Autosomal Recessive Polycystic Kidney Disease RN 6p12.2 AR 1 "1:10,000-40,000" 1 2 6 51615347 52087625 PKLR 5313 Pyruvate kinase deficiency HM AR 3 "1:20,000; more common in Old Order Amish" 2 2 1 155259630 155271225 PKP1 5317 Epidermolysis Bullosa Simplex plakophilin-1 deficiency CU AR 3 Unknown 2 3 1 201252580 201302121 PLA2G6 8398 Atypical/Infantile Neuroaxonal Dystrophy NU AR 3 "1:1,000,000" 2 2 22 38507502 38601697 PLCE1 51196 "Nephrotic syndrome, type 3" RN AR 3 UNKNOWN 2 2 10 95753746 96092580 PLEC 5339 Epidermolysis Bullosa Ogna CU AD 3 Rare 2 2 8 144989321 145050902 PLEC1 5339 Epidermolysis Bullosa with Pyloric Atresia CU AR 1 Rare 1 1 8 144989321 145050902 PLEKHG5 57449 "Spinal muscular atrophy, distal, autosomal recessive, 4" NU AR 3 UNKNOWN 1 1 1 6526152 6580121 PLG 5340 Congenital plasminogen deficiency HM AR 3 "1.6:1,000,000" 2 2 6 161123270 161174347 PLOD1 5351 "Ehlers-Danlos Syndrome, Kyphoscoliotic Form" DV 1p36.22 AR 1 "1:100,000" 3 2 1 11994262 12035595 PLP1 5354 Pelizaeus-Merzbacher Disease NU XL 1 "1:200,000-500,000" 2 2 X 103028647 103047548 PMM2 5373 Congenital Disorders of Glycosylation MB 16p13.2 AR 3 "1:20,000" 1 2 16 8882680 8943188 PMP22 5376 Charcot-Marie-Tooth Neuropathy Type 1 NU AD 3 "15-20:100,000" 3 3 17 15133095 15168643 PNKD 25953 Familial Paroxysmal Nonkinesigenic Dyskinesia NU AD 2 Rare 3 2 2 219135115 219211516 PNPLA1 285848 Autosomal Recessive Congenital Ichthyosis CU AR 3 "1:200,000" 1 3 6 36243168 36308595 PNPO 55163 Pyridoxamine 5'-phosphate oxidase deficiency MB AR 3 RARE 1 2 17 46018872 46025654 POLG 5428 Alpers-Huttenlocher Syndrome NU 15q25 AR 3 "1:51,000" 2 1 15 89859534 89878092 POLH 5429 Xeroderma Pigmentosum CU;NU AR 3 "1:1,000,000 in US; 1:22,000 in Japan" 2 1 6 43543887 43586701 POLR1C 9533 Treacher Collins Syndrome SK;DV AR 2 "1:10,000-50,000" 1 2 6 43517039 43529376 POLR1D 51082 Treacher Collins Syndrome SK;DV AD 2 "1:10,000-50,000" 1 2 13 27620743 27667422 POMGNT1 55624 Muscle-Eye-Brain Disease NU 1p34.1 AR 3 prevalent in Finland 1 1 1 46654354 46685977 POMT1 10585 Limb-Girdle Muscular Dystrophy Type 2K NM AR 3 "1:14,500-123,000" 2 2 9 134378289 134399193 POMT2 29954 Limb-Girdle Muscular Dystrophy Type 2N NM AR 3 "1:14,500-123,000" 2 2 14 77274956 77320882 POR 5447 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis DV AR 3 "unknown, rare" 2 1 7 75915102 75986855 PORCN 64840 Focal Dermal Hypoplasia DV XL dominant 1 Rare 2 2 X 48367350 48379202 POU1F1 5449 Combined Pituitary Hormone Deficiency ED "AR, AD" 1 "1:8,000" 2 3 3 87308554 87325737 PPT1 5538 Neuronal Ceroid-Lipofuscinoses NU 1p34.2 AR 3 "1.5-9:1,000,000" 1 2 1 40538379 40563375 PQBP1 10084 Renpenning syndrome NU XL 3 Rare 1 2 X 48755195 48760420 PREPL 9581 HYPOTONIA-CYSTINURIA SYNDROME RN AR 3 UNKNOWN 2 2 2 44543420 44589001 PRF1 5551 Familial hemophagocytic lymphohistiocytosis IM 10q22.1 AR 3 "1:50,000" 2 1 10 72357104 72362531 PRICKLE1 144165 Progressive Myoclonus Epilepsy with Ataxia NU AR 1 UNKNOWN 2 2 12 42852140 42984157 PRICKLE2 166336 Progressive myoclonic epilepsy 5 (EPM5) NU AR 3 UNKNOWN 2 2 3 64079543 64431152 PRKAG2 51422 Wolff-Parkinson-White syndrome CD AD 3 "1-3:1,000" 3 2 7 151253197 151574210 PRKAR1A 5573 Carney Complex CU;ED AD 2 Rare 2 2 17 66507921 66547460 PRNP 5621 Familial Creutzfeldt-Jakob disease NU AD 2 Rare 4 3 20 4686151 4701588 PROC 5624 Protein C deficiency HM AR 3 UNKNOWN 2 2 2 128176003 128186822 PROP1 5626 Combined Pituitary Hormone Deficiency ED 5q35.3 AR 1 "1:8,000" 2 3 5 177419236 177423243 PRPS1 5631 Arts Syndrome NU;DF;DV XL 1 Rare 1 2 X 106871737 106894256 PRRT2 112476 Familial Paroxysmal Kinesigenic Dyskinesia NU AD 5 "1:150,000" 3 2 16 29823177 29827201 PRX 57716 Charcot-Marie-Tooth Neuropathy Type 4 NU AR 3 Rare 4 3 19 40899675 40919273 PSAP 5660 "COMBINED SAPOSIN DEFICIENCY,Krabbe disease, atypical,METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY" MB AR 3 Rare 1 1 10 73576055 73611126 PSAT1 29968 PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY MB AR 3 UNKNOWN 1 1 9 80912059 80945009 PSEN1 5663 "Early-Onset Familial Alzheimer Disease" NU 14q24.3 AD 1 "41.2:100,000" 4 3 14 73136435 73223691 PSTPIP1 9051 "Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome" SK;CU AD 3 RARE 2 3 15 77285700 77329673 PTCH1 5727 Nevoid Basal Cell Carcinoma Syndrome OT AD 1 "1:57,000 in UK; 1:164,000 in Australia" 3 2 9 98205262 98279339 PTEN 5728 PTEN Hamartoma Tumor Syndrome (PHTS) OT AD 2 "1:200,000" 3 2 10 89622870 89731687 PTH1R 5745 "Chondrodysplasia, Blomstrand type" SK AR 3 Rare 1 1 3 46919236 46945287 PTPN11 5781 "LEOPARD Syndrome,Noonan Syndrome" CD;DV AD 3 UNKNOWN; RARE 2 2 12 112856155 112947717 PTPRC 5788 "Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive" IM AR 3 unknown 1 1 1 198607801 198726545 PYCR1 5831 Cutis Laxa CU AR 3 "1:400,000" 2 2 17 79890260 79900288 PYGL 5836 Glycogen Storage Disease Type VI MB AR 3 "1:300,000-400,000" 3 3 14 51324609 51411454 PYGM 5837 Glycogen Storage Disease Type V / McArdle's Disease MB 11q13.1 AR 3 "1:100,000" 4 3 11 64513861 64527769 RAB23 51715 CARPENTER SYNDROME DV;SK AR 3 Rare 1 2 6 57053607 57087078 RAB27A 5873 Griscelli syndrome NU AR 3 Rare 1 2 15 55202966 55289832 RAB3GAP1 22930 Warburg micro syndrome 1 DV AR 3 unknown 2 2 2 135809835 135933964 RAB3GAP2 6791 Martsolf syndrome NU AR 3 RARE 1 2 1 220321635 220445796 RAD51C 5889 Fanconi Anemia HM AR 3 "1:360,000" 2 2 17 56769934 56811703 RAF1 5894 "LEOPARD Syndrome,Noonan Syndrome" CD;DV AD 3 UNKNOWN; RARE 2 2 3 12625100 12705725 RAG1 5896 Severe combined immunodeficiency IM AR 3 UNKNOWN 2 1 11 36532259 36614706 RAG2 5897 Severe combined immunodeficiency IM AR 3 UNKNOWN 2 1 11 36597124 36619829 RAPSN 5913 Congenital Myasthenic Syndrome NM AR 2 "25-125:1,000,000" 1 2 11 47459308 47470730 RARS2 57038 Pontocerebellar Hypoplasia Type 6 NU AR 3 RARE 2 2 6 88224096 88299721 RASA1 5921 Capillary Malformation (with or without arteriovenous malformation) OT AD 2 "1:100,000" 2 2 5 86563705 86687748 RD3 343035 Leber Congenital Amaurosis OC AR 3 "2-3:100,000" 2 2 1 211649864 211666259 RDH12 145226 Leber Congenital Amaurosis OC AR 3 "2-3:100,000" 2 2 14 68168603 68201169 RECQL4 9401 Baller-Gerold Syndrome SK AR 3 "<1:1,000,000" 1 2 8 144511284 144517826 RELN 5649 lissencephaly with cerebellar hypoplasia NU AR 3 Rare 2 2 7 103112231 103629963 REN 5972 "Familial Juvenile Hyperuricemic Nephropathy Type 2 ,Renal tubular dysgenesis" HM;RN AD 1 Rare 2 2 1 204123944 204135465 RET 5979 Multiple Endocrine Neoplasia Type 2 (Familial Medullary Thyroid Carcinoma) OT AD 2 "1:35,000" 4 2 10 43572475 43625799 RFT1 91869 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 3 53122499 53164478 RIN2 54453 Cutis Laxa CU AR 3 "1:400,000" 2 2 20 19867165 19983101 RMRP 6023 Cartilage-Hair Hypoplasia DV;IM 9p13.3 AR 3 "1-2:1,000 in Old Order Amish; 1:23,000 in Finland" 1 2 9 35657751 35658018 RNASEH2A 10535 Aicardi-Gouti̬res Syndrome NU 19p13_.2 AR 3 unknown 1 1 19 12917394 12924452 RNASEH2B 79621 Aicardi-Gouti̬res Syndrome NU 13q14_.3 AR 3 unknown 1 1 13 51483814 51544592 RNASEH2C 84153 Aicardi-Gouti̬res Syndrome NU 11q13_.1 AR 3 unknown 1 1 11 65482367 65488418 ROR2 4920 Robinow syndrome SK;DV AR 3 Rare 1 2 9 94325373 94712444 RPGRIP1 57096 Leber Congenital Amaurosis OC AR 3 "2-3:100,000" 2 2 14 21756098 21819460 RPGRIP1L 23322 Meckel syndrome DV 16q12.2 AR 3 "1:12,250-140000; 1:9,000 in Finland; 1:3,000 in Belgium" 1 1 16 53631595 53737850 RPL11 6135 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 1 24018269 24022915 RPL35A 6165 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 3 197676858 197683481 RPL36 25873 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 19 5674958 5691887 RPL5 6083 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 1 93297582 93307481 RPS10 6204 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 6 34385231 34393902 RPS15 6209 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 19 1438358 1440583 RPS17 6218 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 15 83205504 83209315 RPS19 6223 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 19 42363988 42376994 RPS24 6229 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 10 79793518 79816570 RPS26 6231 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 12 56435637 56438116 RPS27A 6233 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 2 55459039 55462989 RPS6KA3 6197 Coffin-Lowry Syndrome NU;DV XL dominant 3 "1:40,000-50,000" 2 2 X 20168029 20285523 RPS7 6201 Diamond-Blackfan Anemia HM;DV AD 5 "1:100,000-200,000" 2 2 2 3622795 3628509 RS1 6247 X-Linked Juvenile Retinoschisis OC Xp22.13 XL 1 "1:5,000-250,000" 2 3 X 18658030 18690229 RSPH4A 345895 Primary Ciliary Dyskinesia RP AR 3 "1:16,000 in Norway and Japan" 1 2 6 116937642 116954148 RSPH9 221421 Primary Ciliary Dyskinesia RP AR 3 "1:16,000 in Norway and Japan" 1 2 6 43612783 43640336 RTEL1 51750 Dyskeratosis congenita DV 20q13.3 AR 1 Rare 1 2 20 62289163 62328416 RUNX2 860 Cleidocranial Dysplasia SK AD 2 "1:1,000,000" 2 3 6 45295894 45632086 RYR1 6261 "Central core Disease,Congenital Fiber-Type Disproportion" NM AR 2 "1-9:1,000,000" 2 2 19 38924339 39078204 SACS 26278 Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay NU 13q12.12 AR 3 "1:1,932 in Quebec" 2 2 13 23328823 23433728 SALL1 6299 Townes-Brocks Syndrome DV AD 1 "1:250,000" 1 2 16 51169886 51185278 SALL4 57167 Acro-renal-ocular syndrome DV 20q13_.2 AD 4 rare 2 2 20 50400581 50419059 SAMHD1 25939 Aicardi-Gouti̬res Syndrome NU 20q11_.23 AR 3 unknown 1 1 20 35518632 35580246 SAX1 114610 Autosomal Dominant Spastic Ataxia NU AD 3 Rare 2 3 12 0 0 SBDS 51119 Shwachman-Diamond Syndrome GI;HM AR 3 "1:76,000" 2 2 7 66452664 66460588 SC5DL 6309 Lathosterolosis MB AR 3 RARE 1 2 11 121163162 121179403 SCARB2 950 Progressive myoclonic epilepsy 4 with or without renal failure (EPM4) NU ? 3 UNKNOWN 3 2 4 77079890 77135046 SCN4A 6329 "Acetazolamide-responsive myotonia congenita,Congenital Myasthenic Syndrome" NM 17q23.3 AD 3 "1-9: 1,000,000" 2 3 17 62015914 62050278 SCN9A 6335 Congenital indifference to pain NU AR 3 Rare 1 2 2 167051695 167232503 SCNN1A 6337 Pseudohypoaldosteronism type 1 RN AD 5 "1:80,000" 1 2 12 6456009 6486896 SCNN1B 6338 Pseudohypoaldosteronism type 1 RN AR 3 "1:80,000" 1 2 16 23289552 23392620 SCNN1G 6340 Pseudohypoaldosteronism type 1 RN AR 3 "1:80,000" 1 2 16 23194036 23228204 SCO2 9997 "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" MB AR 3 UNKNOWN 1 1 22 50961997 50964868 SDCCAG8 10806 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 1 243419320 243663394 SDHA 6389 Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL5) OT AD 5 "1:300,000" 4 2 5 218356 256815 SDHAF2 54949 Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL2) OT AD 5 "1:300,000" 4 2 11 61197514 61215001 SDHB 6390 Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL4) OT AD 5 "1:300,000" 4 2 1 17345217 17380665 SDHC 6391 Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL3) OT AD 5 "1:300,000" 4 2 1 161284047 161332984 SDHD 6392 Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL1) OT AD 5 "1:300,000" 4 2 11 111957497 111990353 SEC23B 10483 Congenital Disorders of Glycosylation MB (not stated) 3 "1:20,000" 1 2 20 18488137 18542059 SEPN1 57190 Congenital Fiber-Type Disproportion NM AR 3 "unknown, rare" 1 2 1 26126667 26144713 SEPT9 10801 Hereditary Neuralgic Amyotrophy NU AD 5 UNKNOWN 4 2 17 75276651 75496678 SERPINA1 5265 Alpha-1 Antitrypsin Deficiency HP 14q32.13 AR 5 "1:5,000-7,000 in NA; 1:1,500-3,000 in Scandinavians" 3 2 14 94843084 94857030 SETX 23064 Amyotrophic Lateral Sclerosis NU 9q34.13 AD 5 "4-8:1,000,000" 4 3 9 135136743 135230372 SFTPA2 729238 Pulmonary Fibrosis RP AD 5 "20.2:100,000 in men; 13.2:100,000 in women" 4 2 10 81370695 81375196 SFTPB 6439 Surfactant dysfunction RP AR 3 "1:1,000,000" 1 2 2 85884437 85895864 SFTPC 6440 "Pulmonary Fibrosis,Surfactant dysfunction" RP AD 5 "20.2:100,000 in men; 13.2:100,000 in women" 4 2 8 22014426 22021992 SGCA 6442 Limb-Girdle Muscular Dystrophy Type 2D NM 17q21.33 AR 3 "1:14,500-123,000" 2 2 17 50165879 50175932 SGCB 6443 Limb-Girdle Muscular Dystrophy Type 2E NM 4q12 AR 3 "1:14,500-123,000" 2 2 4 52886872 52904648 SGCE 8910 Myoclonus-Dystonia NM AD 2 uNKNOWN 3 3 7 94214542 94285521 SGSH 6448 Mucopolysaccharidosis type III MB 17q25.3 AR 3 "1:100,000-400,000" 2 1 17 78180515 78194722 SH2D1A 4068 X-Linked Lymphoproliferative Disease IM XL 3 "1:1,000,000 males" 3 2 X 123480194 123507005 SH3BP2 6452 Cherubism SK;DV AD 2 unknown 2 3 4 2794750 2842825 SH3TC2 79628 Charcot-Marie-Tooth Neuropathy Type 4C NU AR 3 "5:100,000" 3 2 5 148303202 148442726 SHANK3 85358 Autism Spectrum Disorder NU 22q13.3 AD 1 "<6:1,000 X 5%" 4 5 22 50674642 50733212 SIL1 64374 Marinesco-Sj̦gren Syndrome NU AR 3 Rare; carrier freq 1:96 in Finnland 2 2 5 138282409 138629246 SLC12A1 6557 "BARTTER SYNDROME, ANTENATAL, 1" RN AR 3 "1:1,000,000, more common in Costa Rica and Kuwait" 1 2 15 48483861 48596275 SLC12A6 9990 Andermann Syndrome / Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum NU 15q14 AR 3 1:2177 in Quebec 2 2 15 34525460 34630261 SLC16A2 6567 Allan-Herndon-Dudley syndrome NU XL 3 RARE 1 1 X 74421493 74533929 SLC17A5 26503 Salla Disease MB 6q13 AR 2 mainly from Finland and Sweden; carrier freq 1:100 in Finland 2 3 6 73593379 73654014 SLC19A2 10560 Thiamine-Responsive Megaloblastic Anemia Syndrome HM AR 3 UNKNOWN 2 2 1 169433147 169455241 SLC19A3 80704 Thiamine metabolism dysfunction syndrome 2 NU AR 3 UNKNOWN 3 2 2 228549926 228582728 SLC1A3 6507 Episodic Ataxia type 6 NM AD 3 Rare 3 2 5 36606457 36688436 SLC20A2 6575 Familial Idiopathic Basal Ganglia Calcification NU AD 4 Unknown 4 2 8 42273993 42397069 SLC22A5(OCTN2) 6584 "Primary Carnitine Deficiency,Systemic Primary Carnitine Deficiency" MB 5q31.1 AR 3 "1:50,000 in US" 2 2 5 132369704 132395614 SLC25A15 10166 Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH Syndrome) MB 13q14.11 AR 3 "1:5,500 in French-Canadian" 2 2 13 41363548 41384247 SLC25A19 60386 Amish Lethal Microcephaly DV;SK 17q25.3 AR 3 1:500 in the Old Order Amish 1 1 17 73269073 73285591 SLC25A22 79751 Early infantile epileptic encephalopathy NU AR 3 Unknown 1 1 11 790475 798316 SLC25A4 291 "Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2" NU AD 3 UNKNOWN 4 3 4 186064395 186071536 SLC26A2 1836 Achondrogenesis Type 1B / Diastrophic Dysplasia / Recessive Multiple Epiphyseal Dysplasia SK 5q32 AR 3 "1:10,000-20,000" 2 2 5 149340300 149373018 SLC26A4 5172 Pendred Syndrome ED;DF 7q22.3 AR 3 1:500 x 5.5% 1 3 7 107301080 107358254 SLC2A1 6513 Glucose Transporter Type 1 Deficiency Syndrome MB;NU AD 1 Rare 1 2 1 43391052 43424530 SLC2A10 81031 Arterial tortuosity syndrome CD AR 3 Rare 3 2 20 45338126 45364965 SLC34A2 10568 Pulmonary alveolar microlithiasis RP AR 3 UNKNOWN 4 3 4 25656923 25680370 SLC35A1 10559 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 6 88180341 88222054 SLC35C1 55343 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 11 45825623 45834566 SLC35D1 23169 Schneckenbecken dysplasia SK AR 3 UNKNOWN 1 1 1 67465015 67519782 SLC37A4 2542 Glycogen Storage Disease Type Ib MB 11q23.3 AR 3 "1:100,000" 2 2 11 118894824 118901616 SLC39A13 91252 Ehlers-Danlos syndrome spondylocheirodyplastic form DV AR 3 Unknown 2 2 11 47428683 47438047 SLC3A1 6519 HYPOTONIA-CYSTINURIA SYNDROME RN AR 3 UNKNOWN 2 2 2 44275458 44320824 SLC40A1 30061 Hereditary Hemochromatosis MB;HM AD 5 1/3 carrier freq in European 4 2 2 190425305 190448484 SLC45A2 51151 Oculocutaneous Albinism Type 4 OC;CU AR 3 "1:100,000" 1 3 5 33944616 33984675 SLC46A1 113235 Hereditary Folate Malabsorption MB AR 3 UNKNOWN 2 2 17 26721661 26734215 SLC4A11 83959 Corneal endothelial dystrophy and perceptive deafness OC AR 3 Rare 1 2 20 3227417 3239241 SLC6A5 9152 Hyperekplexia NU (not stated) 2 UNKNOWN 1 2 11 20620946 20680831 SLC6A8 6535 Creatine Transporter Defect MB Xq28 XL 3 2-5% intellectual disability patients 2 2 X 152953554 152962048 SLC7A7 9056 Lysinuric Protein Intolerance MB 14q11.2 AR 3 "1:60,000 in Finland; 1:57,000 in Japan" 1 2 14 23242431 23299029 SLC9A6 10479 "intellectual disability, X-linked syndromic, Christianson type" NU;DV XL 3 Rare 2 2 X 135067598 135129423 SLX4 84464 Fanconi Anemia HM AR 3 "1:360,000" 2 2 16 3631182 3661599 SMAD3 4088 Thoracic Aortic Aneurysms and Aortic Dissections CD AD 5 COMMON 3 2 15 67356101 67487533 SMARCAL1 50485 Schimke Immunoosseous Dysplasia DV AR 3 "1:1,000,000-3,000,000" 3 2 2 217277137 217347776 SMC1A 8243 Cornelia de Lange Syndrome DV;SK XL 2 "1-10:100,000" 1 2 X 53401070 53449677 SMC3 9126 Cornelia de Lange Syndrome DV;SK AD 2 "1-10:100,000" 1 2 10 112327449 112364394 SMN1 6606 Spinal Muscular Dystrophy NM AR 2 carrier freq 1:50 2 1 5 70220768 70249769 SMPD1 6609 Niemann Pick Disease Type A MB 11p15.4 AR 3 "1:250,000" 1 1 11 6411655 6416228 SMS 6611 Snyder-Robinson Syndrome NU;DV XL 2 UNKNOWN 2 2 X 21958691 22025798 SNAP29 9342 "Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" NU AR 3 Rare 1 2 22 21213271 21245506 SOD1 6647 Amyotrophic Lateral Sclerosis NU 21q22.11 AD 5 "4-8:1,000,000" 4 3 21 31659622 31668931 SOS1 6654 Noonan Syndrome DV 2p22.1 AD 1 "1:1,000-2,500" 2 2 2 39208537 39351486 SOST 50964 Craniodiaphyseal dysplasia SK AD 3 Rare 1 1 17 41831099 41836156 SOX10 6663 "Waardenburg syndrome, type 2E, with or without neurologic involvement" CU AD 3 unknown 2 2 22 38366693 38383429 SOX18 54345 Hypotrichosis-Lymphedema-Telangiectasia Syndrome DV AD 3 Rare 1 2 20 62679076 62680994 SOX2 6657 SOX2-Related Eye Disorders OC AD 1 "1:250,000" 1 1 3 181429714 181432221 SOX9 6662 Acampomelic campomelic dysplasia SK 17q24.3 AD 1 "1:40,000-80,000" 1 1 17 72121020 72126420 SP110 3431 Hepatic Veno-Occlusive Disease with Immunodeficiency IM 2q37.1 AR 1 "1:2,500 in Lebanese origin" 2 2 2 231032009 231090444 SPATA7 55812 Leber Congenital Amaurosis OC AR 3 "2-3:100,000" 2 2 14 88851268 88936694 SPRED1 161742 Legius Syndrome CU;DV AD 2 "1:150,000" 2 2 15 38544527 38649450 SPTLC1 10558 Hereditary Sensory Neuropathy NU AD 5 "30:100,000" 3 2 9 94794281 94877666 SPTLC2 9517 Hereditary Sensory Neuropathy NU AD 5 "30:100,000" 3 2 14 77972340 78083116 SRD5A2 6716 5-alpha-reductase deficiency ED 2p23 AR 3 "unknown, rare" 2 3 2 31524586 31580971 SRD5A3 79644 Congenital Disorders of Glycosylation MB AR 3 "1:20,000" 1 2 4 56212276 56239263 ST3GAL5 8869 AMISH INFANTILE EPILEPSY SYNDROME NU AR 3 UNKNOWN 1 2 2 86066267 86116137 STAR 6770 lipoid congenital adrenal hyperplasia ED AR 3 "1:300,000 in East Asia, rare in Europe" 2 3 8 38001167 38008783 STAT3 6774 Autosomal Dominant Hyper IgE Syndrome DV;IM AD 1 UNKNOWN 2 1 17 40465342 40540586 STAT5B 6777 Growth Hormone Insensitivity with Immunodeficiency DV;IM AR 3 Rare 2 2 17 40351186 40428725 STIL 6491 Primary Autosomal Recessive Microcephaly SK;DV AR 3 "1:30,000-250,000" 1 2 1 47715811 47779819 STK11 6794 Peutz-Jeghers Syndrome GI;DV AD 1 "1:25,000-280,000" 3 2 19 1189406 1228428 STRA6 64220 "Microphthalmia, syndromic 9" OC;DV AR 3 UNKNOWN 1 2 15 74471807 74504608 STX11 8676 Familial hemophagocytic lymphohistiocytosis IM 6q24.2 AR 3 "1:50,000" 2 1 6 144471663 144509507 STXBP1 6812 Early infantile epileptic encephalopathy NU AD 3 Rare 1 2 9 127612207 127692716 STXBP2 6813 Familial hemophagocytic lymphohistiocytosis IM 19p13.2 AR 3 "1:50,000" 2 1 19 7637101 7647874 SUCLG1 8802 Fatal infantile lactic acidosis MB AR 3 Rare 1 1 2 84650647 84687169 SURF1 6834 Leigh syndrome CU 9q34.2 AR 3 UNKNOWN 2 2 9 133351805 133356670 SUOX 6821 SULFOCYSTEINURIA MB AR 3 UNKNOWN 1 1 12 56390964 56400425 SYNE1 23345 "Spinocerebellar ataxia, autosomal recessive 8" NU AR 3 "unknown, common in Quebec" 4 4 6 152442819 152958936 SYNE2 23224 Emery-Dreifuss Muscular Dystrophy NM AD 3 Rare 3 3 14 63852965 64226449 TAC3 6866 Normosmic Isolated GnRH Deficiency ED AR 2 "1:30,000-125,000" 3 3 12 57009997 57024029 TACO1 51204 Leigh syndrome and optic atrophy with COX deficiency MB 17q23.3 AR 3 "1:35,000" 2 3 17 61678231 61685725 TACR3 6870 Normosmic Isolated GnRH Deficiency ED AR 2 "1:30,000-125,000" 3 3 4 104507188 104640973 TARDBP 23435 Amyotrophic Lateral Sclerosis NU AD 5 "4-8:1,000,000" 4 3 1 11072414 11085796 TAZ 6901 3-Methylglutaconic Aciduria Type 2 MB Xq28 XL 3 "1:200,000 male infants" 2 2 X 153639854 153650065 TBCE 6905 Kenny-Caffey Syndrome Type 1 DV AR 3 UNKNOWN 1 2 1 235530675 235612283 TBX5 6910 Holt-Oram Syndrome SK;CD AD 1 "1:100,000" 1 2 12 114791736 114846247 TCIRG1 10312 Osteopetrosis SK AD;AR 5 "1:100,000." 1 1 11 67806483 67818362 TCOF1 6949 Treacher Collins Syndrome SK;DV AD 2 "1:10,000-50,000" 1 2 5 149737202 149779871 TCTN1 79600 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 12 111051832 111087235 TCTN2 79867 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 12 124155660 124192948 TDP1 55775 "Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive" NU AR 3 RARE 3 2 14 90421283 90511106 TEK 7010 Multiple Cutaneous and Mucosal Venous Malformations CU AD 4 UNKNOWN 1 3 9 27109139 27230173 TERC 7012 "Dyskeratosis Congenita,Pulmonary Fibrosis" DV AD 1 Rare 1 2 3 169764610 169765060 TERT 7015 "Dyskeratosis Congenita,Pulmonary Fibrosis" DV AD;AR 1 Rare 1 2 5 1253262 1295184 TF 7018 Atransferrinemia HM AR 3 Rare 1 2 3 133464800 133497850 TFAP2A 7020 Branchiooculofacial Syndrome DV AD 2 "unknown, rare" 1 2 6 10393419 10419892 TFAP2B 7021 Char Syndrome CD;DV AD 2 Rare 2 2 6 50818726 50847613 TFR2 7036 Hereditary Hemochromatosis MB;HM AR 5 1/3 carrier freq in European 4 2 7 100218039 100240402 TGFB1 7040 Camurati-Engelmann Disease SK;NM;DV AD 2 unknown 3 2 19 41330531 41353933 TGFBR1 7046 Loeys-Dietz Syndrome SK;DV AD 1 UNKNOWN 2 2 9 101866320 101916474 TGFBR2 7048 Loeys-Dietz Syndrome SK;DV AD 1 UNKNOWN 2 2 3 30647994 30735634 TGM1 7051 Autosomal Recessive Congenital Ichthyosis CU AR 3 "1:200,000" 1 3 14 24718320 24733638 TH 7054 Segawa Syndrome MB 11p15.5 AR 3 "1:1,000,000" 2 3 11 2185159 2193107 TIMM8A 1678 Deafness-Dystonia-Optic Neuronopathy Syndrome DF;OC;NU XL 3 UNKNOWN 2 2 X 100600649 100604184 TINF2 26277 Dyskeratosis Congenita DV AD 1 Rare 1 2 14 24708849 24711880 TJP2 9414 Familial hypercholanemia MB AR 3 Rare 1 2 9 71736209 71870124 TK2 7084 Mitochondrial myopathy with mtDNA depletion NU AR 3 RARE 2 2 16 66541906 66586447 TMEM138 51524 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 11 61129473 61136981 TMEM216 51259 "Joubert Syndrome 2,Meckel syndrome" NU 11q12.2 AR 3 "1:80,000-100,000; AJ carrier freq 1:92-100" 2 1 11 61159159 61166335 TMEM237 65062 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 2 202484907 202508293 TMEM67 91147 Meckel syndrome DV 8q22 AR 3 "1:12,250-140000; 1:9,000 in Finland; 1:3,000 in Belgium" 1 1 8 94767072 94831462 TNFRSF11B 4982 Paget disease of bone SK AR 3 0.111111111 4 3 8 119935796 119964439 TNFRSF13B 23495 Common Variable Immune Deficiency IM AD 3 "1:30,000" 2 2 17 16832849 16875432 TNFRSF13C 115650 Common Variable Immune Deficiency IM AR 3 "1:30,000" 2 2 22 42321045 42322822 TNFRSF6(FAS) 355 Autoimmune lymphoproliferative syndrome IM AD 2 "unknown, rare" 3 2 10 90750414 90775542 TNNT1 7138 nemaline myopathy NM AR 3 "1:50,000 in Finnish; 1:500 in Amish" 2 2 19 55644162 55660722 TNXB 7148 "Ehlers-Danlos Syndrome, Hypermobility Type" DV AD 1 "1:5,000-20,000" 2 2 6 32008931 32083111 TOR1A(DYT1) 1861 Early-Onse Dystonia NM 9q34.11 AD 5 "1:3,000-9,000 in AJ, 1:12,000 in French" 2 3 9 132575223 132586413 TP63 8626 ADULT syndrome DV 3q28 AD 3 "<1:1,000,000" 1 2 3 189349205 189615068 TPK1 27010 Thiamine metabolism dysfunction syndrome 5 NU AR 3 UNKNOWN 2 2 7 144149034 144533488 TPM2 7169 "Congenital Fiber-Type Disproportion,nemaline myopathy" NM AD 3 "unknown, rare" 1 2 9 35681989 35691017 TPM3 7170 "Congenital Fiber-Type Disproportion,nemaline myopathy" NM AD;AR 3 "unknown, rare" 1 2 1 154127784 154167124 TPP1 1200 Neuronal Ceroid-Lipofuscinoses NU 11p15.4 AR 3 "1.5-9:1,000,000" 1 2 11 6634000 6640692 TRAPPC2 6399 X-Linked Spondyloepiphyseal Dysplasia Tarda SK;DV XL 3 "1:150,000-200,000" 2 3 X 13730363 13752754 TREM2 54209 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy SK;NU AR 3 "1-2:1,000,000" 4 2 6 41126244 41130924 TREX1 11277 "Aicardi-Gouti̬res Syndrome,Autosomal Dominant Retinal Vasculopathy with Cerebral Leukodystrophy" NU 3p21_.31 AR 3 unknown 1 1 3 48506445 48509044 TRIM32 22954 "Bardet-Biedl Syndrome,Limb-Girdle Muscular Dystrophy Type 2H" DV AR 2 "1:100,000-160,000" 2 2 9 119449581 119463579 TRIM37 4591 Mulibrey nanism DV AR 3 Most patients are from Finland 2 2 17 57059999 57184282 TSEN2 80746 Pontocerebellar Hypoplasia NU 3p25.2 AR 3 UNKNOWN 1 1 3 12484432 12539630 TSEN34 79042 Pontocerebellar Hypoplasia NU AR 3 UNKNOWN 1 1 19 54693789 54697585 TSEN54 283989 Pontocerebellar Hypoplasia NU 17q25.1 AR 3 UNKNOWN 1 1 17 73512141 73520820 TSFM 10102 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3 MB AR 3 UNKNOWN 1 1 12 58176372 58201854 TSHB 7252 "HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4" ED AR 3 UNKNOWN 2 2 1 115572415 115576941 TSPAN12 23554 Familial Exudative Vitreoretinopathy OC AD 1 Rare 3 3 7 120427376 120498456 TSPYL1 7259 Sudden infant death with dysgenesis of the testes syndrome RP AR 3 UNKNOWN 1 1 6 116597741 116601066 TTC21B 79809 Joubert Syndrome NU AR 3 "1:80,000-100,000" 1 1 2 166713985 166810353 TTC8 123016 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 14 89290497 89344335 TTN 7273 Limb-Girdle Muscular Dystrophy Type 2J NM AR 3 "1:14,500-123,000" 2 2 2 179390716 179695529 TTPA 7274 Ataxia with Vitamin E Deficiency NU 8q12.3 AR 1 rare 2 2 8 63961112 63998612 TUBA1A 7846 lissencephaly NU AD 3 UNKNOWN 2 2 12 49578579 49583107 TUBB3 10381 Congenital Fibrosis of the Extraocular Muscles OC AD 2 "1:230,000" 1 2 16 89985573 90002500 TXNDC3 51314 Primary Ciliary Dyskinesia RP AR 3 "1:16,000 in Norway and Japan" 1 2 7 37848597 37900401 TYR 7299 Oculocutaneous Albinism Type 1A OC;CU AR 3 "1:40,000" 1 3 11 88910620 89028927 TYROBP 7305 Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy SK;NU AR 3 "1-2:1,000,000" 4 2 19 36395303 36399197 UBA1 7317 "Spinal Muscular Atrophy, X-Linked Infantile" NM XL 1 UNKNOWN 1 1 X 47050260 47074527 UBR1 197131 Johanson-Blizzard syndrome DV AR 3 "1:250,000" 1 2 15 43235095 43398311 UMOD 7369 UMOD-Associated Kidney Disease RN AD 2 RARE 3 2 16 20344374 20367623 UNC13D 201294 Familial hemophagocytic lymphohistiocytosis IM 17q25.1 AR 3 "1:50,000" 2 1 17 73823306 73840798 UQCRB 7381 "Mitochondrial complex III deficiency, nuclear type 3" MB AR 3 UNKNOWN 1 2 8 97238148 97247862 UQCRQ 27089 "Mitochondrial complex III deficiency, nuclear type 3" MB AR 3 UNKNOWN 1 2 5 132202252 132203723 UROS 7390 "PORPHYRIA, CONGENITAL ERYTHROPOIETIC" CU AR 3 UNKNOWN 3 2 10 127477146 127511817 USH1C 10083 "USHER SYNDROME, IC; USH1C" OC AR 1 "3.6-6.2:100,000" 1 2 11 17515442 17565963 USH1G 124590 "USHER SYNDROME, IG; USH1G" OC AR 1 "3.6-6.2:100,000" 1 2 17 72912176 72919351 USH2A 7399 "USHER SYNDROME, IIA; USH2A" OC AR 1 "3.6-6.2:100,000" 1 2 1 215796236 216596738 VAPB 9217 Amyotrophic Lateral Sclerosis NU AD 5 "4-8:1,000,000" 4 3 20 58389119 58451101 VCP 7415 Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia NM AD 2 UNKNOWN 4 2 9 35056061 35073246 VDR 7421 "Vitamin D-dependent rickets, type II" ED AR 3 unknown 1 2 12 48235320 48336831 VHL 7428 Von Hippel-Lindau Syndrome Type 1 OT AD 2 "1;36,000" 2 2 3 10182692 10193904 VLDLR 7436 Cerebellar Hypoplasia NU AR 3 Rare 2 3 9 2621774 2654485 VPS13B 157680 Cohen Syndrome NU 8q22.2 AR 3 unknown 2 1 8 100025494 100889808 VPS33B 26276 "Arthrogryposis, renal dysfunction, and cholestasis 1" DV AR 3 Rare 1 2 15 90998416 91022621 WAS 7454 Wiskott-Aldrich Syndrome HM XL 1 "1:100,000-1,000,000" 1 1 X 48534985 48549818 WDPCP 51057 Bardet-Biedl Syndrome DV AR 2 "1:100,000-160,000" 2 2 2 63348518 64054977 WDR62 284403 Primary Autosomal Recessive Microcephaly SK;DV AR 3 "1:30,000-250,000" 1 2 19 36545783 36596008 WFS1 7466 "Autosomal dominant nonsyndromic hearing loss, DFNA6/14/38, Wolfram Syndrome" DF;NU AD 3 unknown 3 3 4 6271576 6304992 WISP3 8838 Progressive Pseudorheumatoid Arthropathy of Childhood SK AR 3 "1:1,000,000 in UK" 2 2 6 112375275 112392171 WNK1 65125 Hereditary Sensory Neuropathy NU AR 5 "30:100,000" 3 2 12 861759 1020618 WNK4 65266 Pseudohypoaldosteronism Type IIB MB AD 2 UNKNOWN 3 2 17 40932696 40948954 WNT10A 80326 ODONTOONYCHODERMAL DYSPLASIA; OODD CU AR 3 UNKNOWN 2 2 2 219745085 219764303 WNT3 7473 Tetra-Amelia Syndrome SK;DV AR 1 RARE 1 1 17 44839872 44910520 WNT5A 7474 Robinow syndrome SK;DV AD 3 Rare 1 2 3 55499743 55523973 WNT7A 7476 Al-Awadi/Raas-Rothschild/Schinzel Syndrome DV;SK 3p25 AR 3 rare 1 1 3 13857755 13921618 WRAP53 55135 Dyskeratosis Congenita DV AR 1 Rare 1 2 17 7589389 7606820 WRN 7486 Werner Syndrome DV AR 3 "1:20,000-40,000 in Japanese; 1:50,000 in Sardinian; 1:200,000 in US" 3 2 8 30891317 31031285 WT1 7490 "Nephrotic syndrome, type 4" RN AR 3 UNKNOWN 2 2 11 32409321 32457176 XIAP 331 X-Linked Lymphoproliferative Disease IM XL 3 "1:1,000,000 males" 3 2 X 122993574 123047829 XPA 7507 Xeroderma Pigmentosum CU;NU AR 3 "1:1,000,000 in US; 1:22,000 in Japan" 2 1 9 100437191 100459639 XPC 7508 Xeroderma Pigmentosum CU;NU AR 3 "1:1,000,000 in US; 1:22,000 in Japan" 2 1 3 14186647 14220283 ZAP70 7535 Severe Combined Immunodeficiency IM AR 3 UNKNOWN 2 1 2 98330023 98356325 ZBTB24 9841 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 IM AR 3 UNKNOWN 2 2 6 109783797 109804440 ZDHHC9 51114 "intellectual disability, X-linked syndromic, Raymond type" NU;DV XL 3 UNKNOWN 1 2 X 128937264 128977885 ZEB2 9839 Mowat-Wilson Syndrome DV AD 1 "1:50,000-70,000" 1 2 2 145141648 145282147 ZFP57 346171 transient neonatal diabetes with hypomethylation OT 6p22.1 AR; AD 2 "1:215,000 - 400000" 2 2 6 29640169 29648887 ZIC3 7547 "HETEROTAXY, VISCERAL, 1, XLR; HTX1" DV AR 3 "1:500,000-1,000,000; 1:1,800 in Puerto Rico" 2 2 X 136648301 136659850 ZMPSTE24 10269 "Restrictive dermopathy, lethal" CU AR 3 UNKNOWN 1 1 1 40723779 40759856 ZNF469 84627 Brittle cornea syndrome CU AR 3 Rare 1 2 16 88493879 88507165