Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AAAS gene AAAS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550 11701718;11062474;15173230;11159947;18628786 False 3 50;50;0 6.447 False ENSG00000094914 ENSG00000094914 HGNC:13666 AARS gene AARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT 25817015;34446925 False 3 50;50;0 6.447 False ENSG00000090861 ENSG00000090861 HGNC:20 AASS gene AASS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 23570448;10775527;934735 False 3 50;50;0 6.447 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ABAT-related GABA-transaminase Deficiency 28411234;27903293;27376954 False 3 100;0;0 6.447 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCA2 gene ABCA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:618808.0;MONDO:0032930;ABCA2-related intellectual developmental disorder with poor growth and with or without seizures or ataxia 30237576;29302074;31231135;38228874;31047799 False 3 100;0;0 6.447 False ENSG00000107331 ENSG00000107331 HGNC:32 ABCB11 gene ABCB11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847 10579978;16039748;9806540 False 3 50;50;0 6.447 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB7 gene ABCB7 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females ANEMIA, SIDEROBLASTIC, WITH ATAXIA 301310 False 3 50;50;0 6.447 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC6 gene ABCC6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 614473 10835642;22209248;10811882;10835643 False 3 50;50;0 6.447 False ENSG00000091262 ENSG00000091262 HGNC:57 ABCC9 gene ABCC9 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal CANTU SYNDROME HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA 239850 False 3 33;67;0 6.447 False ENSG00000069431 ENSG00000069431 HGNC:60 ABCD1 gene ABCD1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females ADRENOLEUKODYSTROPHY, X-LINKED 300100 7904210;8441467;11748843 False 3 50;50;0 6.447 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE 614857 22922874 False 3 50;50;0 6.447 False ENSG00000119688 ENSG00000119688 HGNC:68 ABHD16A gene ABHD16A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ABHD16A-associated spastic paraplegia, intellectual disability and thin corpus callosum 34587489 False 3 100;0;0 6.447 False ENSG00000204427 ENSG00000204427 HGNC:13921 ABHD5 gene ABHD5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHANARIN-DORFMAN SYNDROME 275630 11590543 False 3 50;50;0 6.447 False ENSG00000011198 ENSG00000011198 HGNC:21396 ABL1 gene ABL1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects and skeletal malformations 617602 28288113 False 3 50;50;0 6.447 False Other ENSG00000097007 ENSG00000097007 HGNC:76 ACAD9 gene ACAD9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACYL-COA DEHYDROGENASE FAMILY MEMBER TYPE 9 DEFICIENCY 611126 21057504;17564966 False 3 50;50;0 6.447 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEDIUM CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201450 7929823;1684086;6434827;1972503;7603790;11409868;11349232;9158144 False 3 50;50;0 6.447 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY 201470 2808706 False 3 50;50;0 6.447 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADVL gene ACADVL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal VERY LONG CHAIN ACYL-COENZYME A DEHYDROGENASE DEFICIENCY 201475 8554073;9546340;9709714;7668252;11158518;7479827;10790204 False 3 50;50;0 6.447 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAN gene ACAN DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA AGGRECAN TYPE 612813;SPONDYLOEPIPHYSEAL DYSPLASIA TYPE KIMBERLEY 608361 False 3 50;50;0 6.447 False ENSG00000157766 ENSG00000157766 HGNC:319 ACAT1 gene ACAT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALPHA-METHYLACETOACETIC ACIDURIA 203750 7907600;4690360;1715688;1627655;9700610;1346617;11914035;1979337 False 3 50;50;0 6.447 False ENSG00000075239 ENSG00000075239 HGNC:93 ACBD5 gene ACBD5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACBD5 deficiency, OMIM:618863 23105016;27799409;33427402 False 3 100;0;0 6.447 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACBD6 gene ACBD6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 3 50;50;0 6.447 False ENSG00000230124 ENSG00000230124 HGNC:23339 ACER3 gene ACER3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACER3-related leukodystrophy, OMIM:617762 26792856;34281620;32816236 False 3 100;0;0 6.447 False ENSG00000078124 ENSG00000078124 HGNC:16066 ACO2 gene ACO2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE CEREBELLAR-RETINAL DEGENERATION 614559 28545339;29577077;29564393;22405087;34056600;31106992 False 3 50;50;0 6.447 False ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ADRENOLEUKODYSTROPHY PSEUDONEONATAL 264470 17458872;2894756;8279468;18536048;11815777 False 3 50;50;0 6.447 False ENSG00000161533 ENSG00000161533 HGNC:119 ACP5 gene ACP5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 607944 21217755;16470600;21217752;12786759;13524805 False 3 50;50;0 6.447 False ENSG00000102575 ENSG00000102575 HGNC:124 ACSL4 gene ACSL4 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 63 300387;ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS 300194 12525535;11889465 False 3 50;50;0 6.447 False ENSG00000068366 ENSG00000068366 HGNC:3571 ACTA1 gene ACTA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEMALINE MYOPATHY 3, 161800 10508519 False 3 50;50;0 6.447 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTA2 gene ACTA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788;MOYAMOYA DISEASE 5 614042 35567597 False 3 50;50;0 6.447 False ENSG00000107796 ENSG00000107796 HGNC:130 ACTB gene ACTB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARAITSER-WINTER SYNDROME;ACTB Haploinsufficiency syndtome 29220674;22366783;100000;27625340 False 3 100;0;0 6.447 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTC1 gene ACTC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACTC1-related distal arthrogryposis with congenital heart disease 38278647;37457373 False 3 100;0;0 6.447 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTG1 gene ACTG1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BARAITSER-WINTER SYNDROME False 3 50;50;0 6.447 False Other ENSG00000184009 ENSG00000184009 HGNC:144 ACTL6B gene ACTL6B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE 618468;INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS 618470 28867141;30656450;31031012;31130285 False 3 50;50;0 6.447 False ENSG00000077080 ENSG00000077080 HGNC:160 ACVR1 gene ACVR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FIBRODYSPLASIA OSSIFICANS PROGRESSIVA 135100 16642017;18830232;19085907;18203193;19330033 False 3 50;50;0 6.447 False Other ENSG00000115170 ENSG00000115170 HGNC:171 ACY1 gene ACY1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AMINOACYLASE-1 DEFICIENCY 609924 17562838;16465618;16274666 False 3 50;50;0 6.447 False ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ADENOSINE DEAMINASE DEFICIENCY 102700 8227344;9225964;46025;21228398;8031011;3684597;3475710;2783588;9361033;8673127;11807006;980079;2166947;8614422;1680289;3839802;3182793 False 3 50;50;0 6.447 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAM22 gene ADAM22 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ADAM22-associated developmental and epileptic encephalopathy 35373813 False 3 100;0;0 6.447 False ENSG00000008277 ENSG00000008277 HGNC:201 ADAMTS15 gene ADAMTS15 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0957819;ADAMTS15-related distal arthrogryposis;OMIM:620545.0 35962790 False 3 100;0;0 6.447 False ENSG00000166106 ENSG00000166106 HGNC:16305 ADAMTS18 gene ADAMTS18 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KNOBLOCH SYNDROME 2 608454 24874986;21862674;23818446;22686506 False 3 50;50;0 6.447 False ENSG00000140873 ENSG00000140873 HGNC:17110 ADAMTS19 gene ADAMTS19 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:620067.0;MONDO:0859572;ADAMTS19-related cardiac valvular dysplasia 32323311;31844321 False 3 100;0;0 6.447 False ENSG00000145808 ENSG00000145808 HGNC:17111 ADAMTS9 gene ADAMTS9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Nephronophthisis Related Ciliopathy 30609407 False 3 50;50;0 6.447 False Other ENSG00000163638 ENSG00000163638 HGNC:13202 ADAMTSL2 gene ADAMTSL2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GELEOPHYSIC DYSPLASIA 1 18677313;21415077 False 3 100;0;0 6.447 False ENSG00000197859 ENSG00000197859 HGNC:14631 ADAR gene ADAR DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE 615010;DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1 127400 16935814;23001123;17478391;24262145;16817193;12916015 False 3 50;50;0 6.447 False ENSG00000160710 ENSG00000160710 HGNC:225 ADCY5 gene ADCY5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADCY5-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000173175 ENSG00000173175 HGNC:236 ADGRG1 gene ADGRG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA 606854 15044805 False 3 50;50;0 6.447 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADGRG6 gene ADGRG6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LETHAL CONGENITAL CONTRACTURE SYNDROME 9 616503 26004201 False 3 50;50;0 6.447 False ENSG00000112414 ENSG00000112414 HGNC:13841 ADNP gene ADNP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT, 28 615873 28475273;29475819;30107084;32275126;25169753;28221363;29724491;31127536;27031564;24531329;28407407 False 3 50;50;0 6.447 False ENSG00000101126 ENSG00000101126 HGNC:15766 ADPRHL2 gene ADPRHL2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30401461;30388405 False 3 50;50;0 6.447 False ENSG00000116863 ENSG00000116863 HGNC:21304 ADSL gene ADSL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ADENYLOSUCCINASE DEFICIENCY 103050 12016589;18830228;6150139;9545543;10090474 False 3 50;50;0 6.447 False ENSG00000239900 ENSG00000239900 HGNC:291 AFF2 gene AFF2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 109, OMIM:309548;FRAXE intellectual disability, MONDO:0010659 21739600;22065534;8334699;8023854;21739600;9299237;11171404;11923441;19136466;2356291 False 3 67;33;0 6.447 False ENSG00000155966 ENSG00000155966 HGNC:3776 AFF3 gene AFF3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AFF3-related KINSSHIP syndrome, OMIM:619297;AFF3-related intellectual disability 38811945;33961779;36576140 False 3 50;50;0 6.447 False ENSG00000144218 ENSG00000144218 HGNC:6473 AFF4 gene AFF4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE-LIKE SYNDROME 25730767 False 3 50;50;0 6.447 False Other ENSG00000072364 ENSG00000072364 HGNC:17869 AFG3L2 gene AFG3L2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPINOCEREBELLAR ATAXIA 28 610246;ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE 614487 28449981;22022284;31111429;32248051;22964162;32237276 False 3 50;50;0 6.447 False ENSG00000141385 ENSG00000141385 HGNC:315 AGA gene AGA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ASPARTYLGLUCOSAMINURIA 208400 1765378;8776587;6883788 False 3 50;50;0 6.447 False ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SENGERS SYNDROME 212350 22415731;22284826;22277967;26622071;3560758;25208612;15168109;23266196 False 3 50;50;0 6.447 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCOGEN STORAGE DISEASE TYPE III 232400 8702417;19834502;9412782;8990006;11378828;10571954;8755644;10925384;10655153;9490286 False 3 50;50;0 6.447 False ENSG00000162688 ENSG00000162688 HGNC:321 AGO1 gene AGO1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AGO1-related developmental disorder (monoallelic) 35060114 False 3 100;0;0 6.447 False ENSG00000092847 ENSG00000092847 HGNC:3262 AGPS gene AGPS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 600121 11152660;7807941 False 3 50;50;0 6.447 False ENSG00000018510 ENSG00000018510 HGNC:327 AGTPBP1 gene AGTPBP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY, OMIM:618276 30420557;30976113;31102495;28600779 False 3 100;0;0 6.447 False ENSG00000135049 ENSG00000135049 HGNC:17258 AGXT gene AGXT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPEROXALURIA, PRIMARY, TYPE 1 259900 8101040 False 3 50;50;0 6.447 False ENSG00000172482 ENSG00000172482 HGNC:341 AHDC1 gene AHDC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown XIA-GIBBS SYNDROME 615829 31182893;27148574;30622101;30729726;30152016;29230160;30858058;24791903;29696776;35596688;32256298;31812316 False 3 50;50;0 6.447 False ENSG00000126705 ENSG00000126705 HGNC:25230 AHI1 gene AHI1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 614615 25616960;16453322;16155189;15467982;25356976;28442542;16240161 False 3 50;50;0 6.447 False ENSG00000135541 ENSG00000135541 HGNC:21575 AIFM1 gene AIFM1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816;COWCHOCK SYNDROME 310490 23217327;20362274 False 3 50;50;0 6.447 False ENSG00000156709 ENSG00000156709 HGNC:8768 AIMP1 gene AIMP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY, HYPOMYELINATING, 3 260600 21092922 False 3 50;50;0 6.447 False ENSG00000164022 ENSG00000164022 HGNC:10648 AIPL1 gene AIPL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 4 604393 10615133;26650897;10873396 False 3 50;50;0 6.447 False ENSG00000129221 ENSG00000129221 HGNC:359 AIRE gene AIRE DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME TYPE 1 240300 9398839;12050215;16965330;9398840;9837820 False 3 50;50;0 6.447 False ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETICULAR DYSGENESIS 267500 19043417;19043416 False 3 50;50;0 6.447 False ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555 12970144 False 3 50;50;0 6.447 False ENSG00000122787 ENSG00000122787 HGNC:388 AKT1 gene AKT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PROTEUS SYNDROME 176920 22876373;21793738 False 3 50;50;0 6.447 False Other ENSG00000142208 ENSG00000142208 HGNC:391 AKT2 gene AKT2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AKT2-related hypoinsulinemic hypoglycemia and hemihypertrophy, OMIM:240900 28541532;26003998;24285683;21979934 False 3 100;0;0 6.447 False ENSG00000105221 ENSG00000105221 HGNC:392 AKT3 gene AKT3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HEMIMEGALENCEPHALY AKT3 603387 22500628;22729224 False 3 50;50;0 6.447 False ENSG00000117020 ENSG00000117020 HGNC:393 ALDH18A1 gene ALDH18A1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT 601162;CUTIS LAXA, AUTOSOMAL DOMINANT 3 616603;MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES 612652 26829900;26297557;26320891;26297558;28228640;26026163 False 3 50;50;0 6.447 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1A2 gene ALDH1A2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALDH1A2-related diaphragmatic hernia and pulmonary hypoplasia 33565183 False 3 100;0;0 6.447 False ENSG00000128918 ENSG00000128918 HGNC:15472 ALDH1A3 gene ALDH1A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ANOPHTHALMIA/MICROPHTHALMIA 24568872;23312594;26873617;23646827;24024553;24777706;23591992 False 3 50;50;0 6.447 False ENSG00000184254 ENSG00000184254 HGNC:409 ALDH3A2 gene ALDH3A2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SJOEGREN-LARSSON SYNDROME 270200 9250352;10577908;10792573;8528251;9254849 False 3 50;50;0 6.447 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERPROLINEMIA TYPE 2 239510 9700195 False 3 50;50;0 6.447 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY 271980 14635103;9683595;16542398 False 3 50;50;0 6.447 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH7A1 gene ALDH7A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PYRIDOXINE-DEPENDENT EPILEPSY 266100 17068770;16491085;17721876 False 3 50;50;0 6.447 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCOGEN STORAGE DISEASE XII 611881 2825199;8598869 False 3 50;50;0 6.447 False ENSG00000149925 ENSG00000149925 HGNC:414 ALG1 gene ALG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALG1-CDG 300141 False 3 50;50;0 6.447 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALG11-CDG 319490 False 3 50;50;0 6.447 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G 607143 11983712;12093361;12217961 False 3 50;50;0 6.447 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) EPILEPTIC ENCEPHALOPATHY;CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS 300884;EPILEPTIC ENCEPHALOPATHIES. 22492991;23934111;28887793 False 3 50;50;0 6.447 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALG2-CDG 237149 False 3 50;50;0 6.447 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALG3 gene ALG3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALG3-CDG 237128 False 3 50;50;0 6.447 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALG6-CDG 237124 False 3 50;50;0 6.447 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih OMIM:608104;ALG8-CDG MONDO:0011969 False 3 50;50;0 6.447 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALG9-CDG 300153 False 3 50;50;0 6.447 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALKBH8 gene ALKBH8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALKBH8-related intellectual disability, microcephaly and seizures, OMIM:618504 31079898;33544954;34757492 False 3 100;0;0 6.447 False ENSG00000137760 ENSG00000137760 HGNC:25189 ALMS1 gene ALMS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALSTROM SYNDROME 203800 11941369;22043170;9063741;17850632;21877133;17594715;11941370 False 3 50;50;0 6.447 False ENSG00000116127 ENSG00000116127 HGNC:428 ALPL gene ALPL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOPHOSPHATASIA 241500 3174660 False 3 50;50;0 6.447 False ENSG00000162551 ENSG00000162551 HGNC:438 ALS2 gene ALS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALS2-RELATED DISORDERS 240656 11586297 False 3 50;50;0 6.447 False ENSG00000003393 ENSG00000003393 HGNC:443 ALX1 gene ALX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FRONTONASAL DYSPLASIA TYPE 3 136760 20451171;27324866 False 3 50;50;0 6.447 False ENSG00000180318 ENSG00000180318 HGNC:1494 ALX3 gene ALX3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FRONTONASAL DYSPLASIA TYPE 1 136760 19409524 False 3 50;50;0 6.447 False ENSG00000156150 ENSG00000156150 HGNC:449 ALX4 gene ALX4 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal PARIETAL FORAMINA 2 609597;FRONTONASAL DYSPLASIA 2 613451 False 3 50;50;0 6.447 False ENSG00000052850 ENSG00000052850 HGNC:450 AMER1 gene AMER1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS 300373 19079258 False 3 50;50;0 6.447 False ENSG00000184675 ENSG00000184675 HGNC:26837 AMFR gene AMFR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AMFR-related spastic paraplegia with/without neurodevelopmental delay 37119330 False 3 100;0;0 6.447 False ENSG00000159461 ENSG00000159461 HGNC:463 AMOTL1 gene AMOTL1 DD-Gene2Phenotype;Expert Review Green;Other DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AMOTL1-related orofacial clefting, cardiac anomalies, and tall stature;Craniofaciocardiohepatic syndrome, OMIM:621192;craniofaciocardiohepatic syndrome, MONDO:0978295 PMID: 36751037;36751037 False 3 100;0;0 6.447 False ENSG00000166025 ENSG00000166025 HGNC:17811 AMPD2 gene AMPD2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA 23911318 False 3 50;50;0 6.447 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCINE ENCEPHALOPATHY 605899 False 3 50;50;0 6.447 False ENSG00000145020 ENSG00000145020 HGNC:473 ANAPC1 gene ANAPC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson Syndrome Type 1 31303264 False 3 100;0;0 6.447 False ENSG00000153107 ENSG00000153107 HGNC:19988 ANKH gene ANKH DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHONDROCALCINOSIS 2 118600;CRANIOMETAPHYSEAL DYSPLASIA JACKSON TYPE 123000 9915952;12297989;12297987;2712793;13130483;8528213;11326272;14322785;8244341;20358596 False 3 50;50;0 6.447 False ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD11 gene ANKRD11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KBG SYNDROME 148050 23494856;25464108;30877071;15378538;28449295;23184435;29224748;30088855;25652421;21782149;15523620;28250421;27667800;27900361;25838844 False 3 50;50;0 6.447 False ENSG00000167522 ENSG00000167522 HGNC:21316 ANKRD17 gene ANKRD17 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANKRD17-associated neurodevelopmental disorder 33909992 False 3 100;0;0 6.447 False ENSG00000132466 ENSG00000132466 HGNC:23575 ANKRD26 gene ANKRD26 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown THROMBOCYTOPENIA 2 188000 10521306;21211618 False 3 50;50;0 6.447 False ENSG00000107890 ENSG00000107890 HGNC:29186 ANO5 gene ANO5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307;GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260 False 3 50;50;0 6.447 False ENSG00000171714 ENSG00000171714 HGNC:27337 ANTXR1 gene ANTXR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GAPO syndrome, OMIM:230740 23602711 False 3 50;50;0 6.447 False ENSG00000169604 ENSG00000169604 HGNC:21014 AP1B1 gene AP1B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEDNIK-like Syndrome 31630791;31630788 False 3 100;0;0 6.447 False ENSG00000100280 ENSG00000100280 HGNC:554 AP1G1 gene AP1G1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AP1G1-related intellectual disability, biallelic;AP1G1-related intellectual disability and epilepsy, monoallelic 34102099 False 3 100;0;0 6.447 False ENSG00000166747 ENSG00000166747 HGNC:555 AP1S2 gene AP1S2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 59 300630 17617514;17186471;12599187;5054319;10398241 False 3 50;50;0 6.447 False ENSG00000182287 ENSG00000182287 HGNC:560 AP2M1 gene AP2M1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and Epileptic Encephalopathy 31104773 False 3 50;50;0 6.447 False ENSG00000161203 ENSG00000161203 HGNC:564 AP2S1 gene AP2S1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AP2S1-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000042753 ENSG00000042753 HGNC:565 AP3B2 gene AP3B2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Epileptic Encephalopathy with Optic Atrophy 27889060 False 3 50;50;0 6.447 False ENSG00000103723 ENSG00000103723 HGNC:567 AP4B1 gene AP4B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 614066 22290197;21620353 False 3 50;50;0 6.447 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 613744 20972249 False 3 50;50;0 6.447 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 612936 19559397 False 3 50;50;0 6.447 False ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 614067 21620353 False 3 50;50;0 6.447 False ENSG00000100478 ENSG00000100478 HGNC:575 APC2 gene APC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay 31585108 False 3 50;50;0 6.447 False ENSG00000115266 ENSG00000115266 HGNC:24036 APOPT1 gene APOPT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 25175347;27588451 False 3 50;50;0 6.447 False ENSG00000256053 ENSG00000256053 HGNC:20492 APTX gene APTX DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATAXIA WITH OCULOMOTOR APRAXIA 1 208920 15852392;11586300;12196655;11586299;15365154 False 3 50;50;0 6.447 False ENSG00000137074 ENSG00000137074 HGNC:15984 AR gene AR DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SPINAL AND BULBAR MUSCULAR ATROPHY, OMIM:313200;ANDROGEN INSENSITIVITY SYNDROME, OMIM:300068 False 3 33;33;33 6.447 False ENSG00000169083 ENSG00000169083 HGNC:644 ARCN1 gene ARCN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephalic dwarfism 27476655 False 3 50;50;0 6.447 False ENSG00000095139 ENSG00000095139 HGNC:649 ARF1 gene ARF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PERIVENTRICULAR NODULAR HETEROTOPIA 8, OMIM:618615 33057194;28868155;34353862 False 3 100;0;0 6.447 False ENSG00000143761 ENSG00000143761 HGNC:652 ARF3 gene ARF3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARF3-related neurodevelopmental disorder 36369169 False 3 100;0;0 6.447 False Other ENSG00000134287 ENSG00000134287 HGNC:654 ARFGEF1 gene ARFGEF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARFGEF1-related intellectual disability and epilepsy 34113008 False 3 100;0;0 6.447 False ENSG00000066777 ENSG00000066777 HGNC:15772 ARFGEF2 gene ARFGEF2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY 608097 14647276 False 3 50;50;0 6.447 False ENSG00000124198 ENSG00000124198 HGNC:15853 ARG1 gene ARG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARGININEMIA 207800 1463019;1598908;2365823;10502833;7649538 False 3 50;50;0 6.447 False ENSG00000118520 ENSG00000118520 HGNC:663 ARHGAP31 gene ARHGAP31 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME 1 100300 16451141;474617 False 3 50;50;0 6.447 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARHGAP35 gene ARHGAP35 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARHGAP35-related developmental disorder (monoallelic) 33057194;28641477 False 3 100;0;0 6.447 False ENSG00000160007 ENSG00000160007 HGNC:4591 ARHGEF9 gene ARHGEF9 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 300607 21633362;28589176 False 3 50;50;0 6.447 False ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1A gene ARID1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COFFIN-SIRIS SYNDROME 135900 False 3 50;50;0 6.447 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900;COFFIN SIRIS SYNDROME 135900 30349098;22426309;22426308;22405089 False 3 50;50;0 6.447 False ENSG00000049618 ENSG00000049618 HGNC:18040 ARID2 gene ARID2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARID2-Coffin-Siris like disorder 36756859;28124119 False 3 50;50;0 6.447 False ENSG00000189079 ENSG00000189079 HGNC:18037 ARL3 gene ARL3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME, 614615 30269812 False 3 50;50;0 6.447 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA TYPE 55 613575;BARDET-BIEDL SYNDROME TYPE 3 209900 12016587;11381270;7987310;16582908;15137946;12118255;19956407;21937992;20805367;15314642;12567324;22353939;15258860;20618352;11567139;7711739;16308660;16606853;18327255;10973251;12837689;18203199;8298649;17160889;14520415;9714014;12524598;10973238;20671153;16380913 False 3 50;50;0 6.447 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC4 gene ARMC4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 23 615451 23849778 False 3 50;50;0 6.447 False ENSG00000169126 ENSG00000169126 HGNC:25583 ARMC9 gene ARMC9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30 28625504 False 3 50;50;0 6.447 False ENSG00000135931 ENSG00000135931 HGNC:20730 ARPC4 gene ARPC4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARPC4-related microcephaly and developmental delay 35047857 False 3 100;0;0 6.447 False ENSG00000241553 ENSG00000241553 HGNC:707 ARSA gene ARSA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARYLSULFATASE A DEFICIENCY 250100 1670590;7906588;8101038;8104633;9600244;11941485;11456299;7833949;7909527;7858169;1678251;7815433;1353340;1673291;12788103;2574462;11061266;8101083;7902317;7866401;1676699;7981715;1684088 False 3 50;50;0 6.447 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 6 253200 1550123;17643332;8723688;1301949;1718978;8651289 False 3 50;50;0 6.447 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females CHONDRODYSPLASIA PUNCTATA 1, X-LINKED 302950 7720070;12567415;9409863 False 3 50;50;0 6.447 False ENSG00000157399 ENSG00000157399 HGNC:719 ARX gene ARX DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED ARX-RELATED 300419;AGENESIS OF THE CORPUS CALLOSUM WITH ABNORMAL GENITALIA 300004;LISSENCEPHALY X-LINKED TYPE 2 300215;EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 1 308350;PARTINGTON SYNDROME 309510 12379852;21108397;19606478;18462864;19738637;11971879;10353782;12177367;17668384;1605226;11891829;21204226;14722918;11889467 False 3 50;50;0 6.447 False ENSG00000004848 ENSG00000004848 HGNC:18060 ASAH1 gene ASAH1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FARBER LIPOGRANULOMATOSIS 228000;SPINAL MUSCULAR ATROPHY ASSOCIATED WITH PROGRESSIVE MYOCLONIC EPILEPSY 159950 22703880;8955159;11241842;10610716;16951918 False 3 50;50;0 6.447 False ENSG00000104763 ENSG00000104763 HGNC:735 ASH1L gene ASH1L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 29276005;29753921;25961944;28394464 False 3 50;50;0 6.447 False ENSG00000116539 ENSG00000116539 HGNC:19088 ASL gene ASL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARGININOSUCCINATE LYASE DEFICIENCY 207900 2263616;12408190;12384776 False 3 50;50;0 6.447 False ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Asparagine synthetase deficiency, OMIM:615574 24139043;27743885;32255274;28776279;27268761;31720226;30978478;27522229;25227173;27469131;29375865;29279279;31123592;32481472;25663424;30057589;27422383 False 3 100;0;0 6.447 False ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CANAVAN DISEASE 271900 8088831;8659549;12638939;7599639;8252036;10564886;10909858;7668285;8023850;16437572 False 3 50;50;0 6.447 False ENSG00000108381 ENSG00000108381 HGNC:756 ASPH gene ASPH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS 24768550 False 3 50;50;0 6.447 False ENSG00000198363 ENSG00000198363 HGNC:757 ASPM gene ASPM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 12355089 False 3 50;50;0 6.447 False ENSG00000066279 ENSG00000066279 HGNC:19048 ASS1 gene ASS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CITRULLINEMIA TYPE I 615700 False 3 50;50;0 6.447 False ENSG00000130707 ENSG00000130707 HGNC:758 ASXL1 gene ASXL1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BOHRING-OPITZ SYNDROME 605039 22419483;21706002 False 3 50;50;0 6.447 False ENSG00000171456 ENSG00000171456 HGNC:18318 ASXL2 gene ASXL2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, macrocephaly, and dysmorphic features 28061364 False 3 50;50;0 6.447 False ENSG00000143970 ENSG00000143970 HGNC:23805 ASXL3 gene ASXL3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BAINBRIDGE-ROPERS SYNDROME 615485 29316359;24044690;29367179;31180560;27075689;27901041;29305346;28955728;23383720;28100473;32240826;31638014;29445472 False 3 50;50;0 6.447 False ENSG00000141431 ENSG00000141431 HGNC:29357 ATAD3A gene ATAD3A DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy;ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy 32004445;27640307 False 3 100;0;0 6.447 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATG7 gene ATG7 DD-Gene2Phenotype;Expert Review Green;Literature DDG2P BIALLELIC, autosomal or pseudoautosomal ATG7-related intellectual disability and ataxia, OMIM:619422;developmental delay;ataxia 34161705;PMID:34161705 False 3 100;0;0 6.447 False ENSG00000197548 ENSG00000197548 HGNC:16935 ATIC gene ATIC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AICA-RIBOSURIA 608688 15114530 False 3 50;50;0 6.447 False ENSG00000138363 ENSG00000138363 HGNC:794 ATL1 gene ATL1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATL1-associated hereditary spastic paraplegia 35925862 False 3 100;0;0 6.447 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATM gene ATM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATAXIA-TELANGIECTASIA 208900 8755918;9887333;11826028;8808599;9450874;9600235;7792600;11889466;22345219;8968760;2491181;9521587;9443866;9781027 False 3 50;50;0 6.447 False ENSG00000149311 ENSG00000149311 HGNC:795 ATN1 gene ATN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494 30827498 False 3 50;50;0 6.447 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATOH7 gene ATOH7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATOH7-related persistent hyperplastic primary vitreous, OMIM:221900 28192794;22645276;22068589;26933893;21441919 False 3 50;50;0 6.447 False ENSG00000179774 ENSG00000179774 HGNC:13907 ATP13A2 gene ATP13A2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PARKINSON DISEASE 9 606693 False 3 50;50;0 6.447 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A1 gene ATP1A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Hypomagnesemia Refractory Seizures and Intellectual Disability 30388404 False 3 50;50;0 6.447 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP1A2 gene ATP1A2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal ATP1A2-related epileptic encephalopathy;MIGRAINE, FAMILIAL HEMIPLEGIC, ATP1A2-related;Autosomal recessive ATP1A2-related neuronal migration disorder with epilepsy 31608932;20837964;17435187;30690204;33880529;33493807 False 3 100;0;0 6.447 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RAPID-ONSET DYSTONIA-PARKINSONISM 128235;ALTERNATING HEMIPLEGIA OF CHILDHOOD 104290 33880529;22842232 False 3 50;50;0 6.447 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP2B1 gene ATP2B1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATP2B1-related neurodevelopmental disorder 35358416 False 3 100;0;0 6.447 False ENSG00000070961 ENSG00000070961 HGNC:814 ATP5A1 gene ATP5A1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal ATP5F1A-related mitochondrial encephalopathy, OMIM:615228;ATP5F1A-related failure to thrive, hyperlactatemia and hyperammonemia 34483339;23599390;23596069 False 3 100;0;0 6.447 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5D gene ATP5D DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATP5F1D metabolic disorder 29478781 False 3 50;50;0 6.447 False ENSG00000099624 ENSG00000099624 HGNC:837 ATP6V0A1 gene ATP6V0A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATP6V0A1-related developmental disorder (monoallelic) 33057194;28135719;30842224 False 3 100;0;0 6.447 False ENSG00000033627 ENSG00000033627 HGNC:865 ATP6V0C gene ATP6V0C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATP6V0C-related Developmental Disorder 36074901;33190975;24623842;28135719 False 3 100;0;0 6.447 False ENSG00000185883 ENSG00000185883 HGNC:855 ATP6V1A gene ATP6V1A DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autosomal Recessive Cutis Laxa (AR);Epileptic encephalopathy, infantile or early childhood, 3 (AD) 28065471;29668857;33320377;32045939 False 3 67;33;0 6.447 False ENSG00000114573 ENSG00000114573 HGNC:851 ATP6V1B1 gene ATP6V1B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DISTAL RENAL TUBULAR ACIDOSIS WITH DEAFNESS 267300 12566520;18798332;9916796 False 3 50;50;0 6.447 False ENSG00000116039 ENSG00000116039 HGNC:853 ATP6V1B2 gene ATP6V1B2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZIMMERMANN-LABAND SYNDROME 25915598 False 3 50;50;0 6.447 False Other ENSG00000147416 ENSG00000147416 HGNC:854 ATP6V1E1 gene ATP6V1E1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal Recessive Cutis Laxa 28065471 False 3 50;50;0 6.447 False ENSG00000131100 ENSG00000131100 HGNC:857 ATP7A gene ATP7A DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 300489;OCCIPITAL HORN SYNDROME 304150;MENKES DISEASE 309400 8149649;11431706;15372525;19194885;9246006;17108763;20170900;10739752;14635105;9894833;12221109;19153371;7842019;8812725 False 3 50;50;0 6.447 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP8B1 gene ATP8B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATP8B1-RELATED INTRAHEPATIC CHOLESTASIS 211600 5762004;11093741;15317749;9500542 False 3 50;50;0 6.447 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATP9A gene ATP9A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATP9A-related neurodevelopmental disorder 34379057;34764295 False 3 100;0;0 6.447 False ENSG00000054793 ENSG00000054793 HGNC:13540 ATR gene ATR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SECKEL SYNDROME TYPE 1 210600 False 3 50;50;0 6.447 False ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580;ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 16222662;9244431;7697714;10632111;15565397;10751095;9598720;9043863;10995512;8644709;6711605;12116232;6682021 False 3 50;50;0 6.447 False ENSG00000085224 ENSG00000085224 HGNC:886 ATXN7L3 gene ATXN7L3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATXN7L3-related developmental delay, hypotonia and facial dysmorphism 38753057 False 3 100;0;0 6.447 False ENSG00000087152 ENSG00000087152 HGNC:25416 AUH gene AUH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-METHYLGLUTACONIC ACIDURIA TYPE 1 250950 6181239;20855850;15033206;10070612;12434311 False 3 50;50;0 6.447 False ENSG00000148090 ENSG00000148090 HGNC:890 AUTS2 gene AUTS2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNDROMIC INTELLECTUAL DISABILITY 612100 26545289;23650183;25205402;23332918;31788251;27531620;27075013;24459036 False 3 50;50;0 6.447 False ENSG00000158321 ENSG00000158321 HGNC:14262 B3GALNT2 gene B3GALNT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 615181 29791932;23453667 False 3 50;50;0 6.447 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640;EHLERS-DANLOS SYNDROME 130070 23664117 False 3 50;50;0 6.447 False ENSG00000176022 ENSG00000176022 HGNC:17978 B4GALT1 gene B4GALT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId, OMIM:607091 32157688;21920538;11901181 False 3 100;0;0 6.447 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070 3631078;15211654 False 3 50;50;0 6.447 False ENSG00000027847 ENSG00000027847 HGNC:930 B9D1 gene B9D1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MECKEL SYNDROME 9 614209 21493627 False 3 50;50;0 6.447 False ENSG00000108641 ENSG00000108641 HGNC:24123 BANF1 gene BANF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NESTOR-GUILLERMO PROGERIA SYNDROME 614008 21549337 False 3 50;50;0 6.447 False ENSG00000175334 ENSG00000175334 HGNC:17397 BAP1 gene BAP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BAP1-associated neurodevelopmental syndrome 35051358 False 3 100;0;0 6.447 False ENSG00000163930 ENSG00000163930 HGNC:950 BBS1 gene BBS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 23143442;12524598;10577922;10577921;20177705;12118255;12837689 False 3 50;50;0 6.447 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 10 209900 26762677;20805367;16582908 False 3 50;50;0 6.447 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 12 209900 19797195;26082521;17160889;20827784 False 3 50;50;0 6.447 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 2 209900 20618352;11567139;16823392;11285252 False 3 50;50;0 6.447 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 4 209900 11381270;12016587 False 3 50;50;0 6.447 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 5 209900 18203199;15137946 False 3 50;50;0 6.447 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 7 209900 12567324 False 3 50;50;0 6.447 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 9 209900 16380913;22353939 False 3 50;50;0 6.447 False ENSG00000122507 ENSG00000122507 HGNC:30000 BCAP31 gene BCAP31 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS 28332767;24011989 False 3 50;50;0 6.447 False ENSG00000185825 ENSG00000185825 HGNC:16695 BCAS3 gene BCAS3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BCAS3-related neurodevelopmental disorder with thinning of corpus callosum and cerebellar atrophy 34022130 False 3 100;0;0 6.447 False ENSG00000141376 ENSG00000141376 HGNC:14347 BCKDHA gene BCKDHA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MAPLE SYRUP URINE DISEASE 248600 1847055;1990841;14508502;11509994;9582350;2703538;18378174;14742428;9621512;8430702;7883996;2010537;2022752 False 3 50;50;0 6.447 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MAPLE SYRUP URINE DISEASE 248600 False 3 50;50;0 6.447 False ENSG00000083123 ENSG00000083123 HGNC:987 BCL11A gene BCL11A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 25533962;35856171;27453576 False 3 50;50;0 6.447 False ENSG00000119866 ENSG00000119866 HGNC:13221 BCL11B gene BCL11B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BCL11B-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000127152 ENSG00000127152 HGNC:13222 BCOR gene BCOR DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA SYNDROMIC TYPE 2 300166 29974297;28317252;19367324;15957158;31048080;15004558;15770227 False 3 50;50;0 6.447 False ENSG00000183337 ENSG00000183337 HGNC:20893 BCS1L gene BCS1L DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GRACILE SYNDROME 603358 12215968 False 3 50;50;0 6.447 False ENSG00000074582 ENSG00000074582 HGNC:1020 BFSP2 gene BFSP2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT AUTOSOMAL DOMINANT BFSP2-RELATED 611597 10634598;10729115 False 3 33;33;33 6.447 False ENSG00000170819 ENSG00000170819 HGNC:1041 BGN gene BGN DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe syndromic form of thoracic aortic aneurysm & dissection;X-Linked Spondyloepimetaphyseal Dysplasia 27632686;27236923;34807424 False 3 50;50;0 6.447 False ENSG00000182492 ENSG00000182492 HGNC:1044 BHLHA9 gene BHLHA9 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SPLIT HAND AND FOOT MALFORMATION 220600;MESOAXIAL SYNOSTOTIC SYNDACTYLY WITH PHALANGEAL REDUCTION, MALIK-PERCIN TYPE 69432 22147889;23790188;25466284 False 3 50;50;0 6.447 False ENSG00000205899 ENSG00000205899 HGNC:35126 BICD2 gene BICD2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE 23664120 False 3 50;50;0 6.447 False ENSG00000185963 ENSG00000185963 HGNC:17208 BICRA gene BICRA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BICRA-related Developmental Disorder 33232675 False 3 100;0;0 6.447 False ENSG00000063169 ENSG00000063169 HGNC:4332 BIN1 gene BIN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CENTRONUCLEAR MYOPATHY 2 255200 17676042;20142620 False 3 50;50;0 6.447 False ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BLOOM SYNDROME 210900 10678659;7585968;8875252 False 3 50;50;0 6.447 False ENSG00000197299 ENSG00000197299 HGNC:1058 BLOC1S6 gene BLOC1S6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HERMANSKY-PUDLAK SYNDROME 9 614171 21665000;22461475 False 3 50;50;0 6.447 False ENSG00000104164 ENSG00000104164 HGNC:8549 BMP2 gene BMP2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Short stature, palatal anomalies, congenital heart disease, and skeletal malformations 100000 False 3 50;50;0 6.447 False ENSG00000125845 ENSG00000125845 HGNC:1069 BMP4 gene BMP4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, SYNDROMIC 6 607932;OROFACIAL CLEFT 11 600625 18252212;19249007;21340693 False 3 50;50;0 6.447 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMPER gene BMPER DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DIAPHANOSPONDYLODYSOSTOSIS 608022 20869035 False 3 50;50;0 6.447 False ENSG00000164619 ENSG00000164619 HGNC:24154 BMPR1B gene BMPR1B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BRACHYDACTYLY TYPE A2 112600 18203755;14523231 False 3 50;50;0 6.447 False ENSG00000138696 ENSG00000138696 HGNC:1077 BNC2 gene BNC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Lower Urinary Tract Obstruction 31051115 False 3 50;50;0 6.447 False ENSG00000173068 ENSG00000173068 HGNC:30988 BOLA3 gene BOLA3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299 11156534 False 3 50;50;0 6.447 False ENSG00000163170 ENSG00000163170 HGNC:24415 BORCS8 gene BORCS8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BORCS8-related early-infantile neurological disorder with severe intellectual disability, hypotonia and congenital heart disease 38128568 False 3 100;0;0 6.447 False ENSG00000254901 ENSG00000254901 HGNC:37247 BPTF gene BPTF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features 28942966 False 3 50;50;0 6.447 False ENSG00000171634 ENSG00000171634 HGNC:3581 BRAF gene BRAF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD SYNDROME TYPE 3 613707;NOONAN SYNDROME TYPE 7 613706;CARDIOFACIOCUTANEOUS SYNDROME 115150 16372351;19206169;16474404;18042262 False 3 50;50;0 6.447 False Other ENSG00000157764 ENSG00000157764 HGNC:1097 BRAT1 gene BRAT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LETHAL NEONATAL RIGIDITY AND SEIZURE SYNDROME 614498 22279524 False 3 50;50;0 6.447 False ENSG00000106009 ENSG00000106009 HGNC:21701 BRCA1 gene BRCA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DISABILITY 616579 34680915;12624153 False 3 50;50;0 6.447 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA COMPLEMENTATION GROUP D TYPE 1 605724 14670928;15070707;12065746 False 3 50;50;0 6.447 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRD4 gene BRD4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cornelia de Lange syndrome 6, OMIM:620568 30302754;29379197 False 3 100;0;0 6.447 False ENSG00000141867 ENSG00000141867 HGNC:13575 BRF1 gene BRF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BRF1-related cerebellofaciodental syndrome, OMIM:616202 27748960;25561519;32896090 False 3 100;0;0 6.447 False ENSG00000185024 ENSG00000185024 HGNC:11551 BRIP1 gene BRIP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP J 609054 16116424 False 3 50;50;0 6.447 False ENSG00000136492 ENSG00000136492 HGNC:20473 BRPF1 gene BRPF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRPF1 associated syndromic intellectual disability with ptosis 27939640;27939639 False 3 50;50;0 6.447 False ENSG00000156983 ENSG00000156983 HGNC:14255 BRSK2 gene BRSK2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental Disorder 30879638 False 3 50;50;0 6.447 False ENSG00000174672 ENSG00000174672 HGNC:11405 BRWD3 gene BRWD3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 93 300659 17668385;30628072;31714006 False 3 50;50;0 6.447 False ENSG00000165288 ENSG00000165288 HGNC:17342 BSND gene BSND DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARTTER SYNDROME TYPE 4A 602522 12574213;11687798;19646679 False 3 50;50;0 6.447 False ENSG00000162399 ENSG00000162399 HGNC:16512 BTD gene BTD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BIOTINIDASE DEFICIENCY 253260 7550325;9158148;8894703;9375914;10801053;9705240;9099842 False 3 50;50;0 6.447 False ENSG00000169814 ENSG00000169814 HGNC:1122 BUB1 gene BUB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BUB1-related microcephaly and developmental disorder 35044816 False 3 100;0;0 6.447 False ENSG00000169679 ENSG00000169679 HGNC:1148 BUB1B gene BUB1B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 257300 21190457;9916837;16411201;11169558;15475955 False 3 50;50;0 6.447 False ENSG00000156970 ENSG00000156970 HGNC:1149 C11orf70 gene C11orf70 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA 29727692;29727693 False 3 50;50;0 6.447 False ENSG00000137691 ENSG00000137691 HGNC:28188 C12orf57 gene C12orf57 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY 218340;TEMTAMY SYNDROME 24798461;23453666 False 3 50;50;0 6.447 False ENSG00000111678 ENSG00000111678 HGNC:29521 C12orf65 gene C12orf65 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559 24198383;20598281;26380172;24284555;24080142;24424123;23188110;27858754 False 3 50;50;0 6.447 False ENSG00000130921 ENSG00000130921 HGNC:26784 C14orf80 gene C14orf80 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TEDC1-related neurodevelopmental disorder with growth impairment, microcephaly, and endocrine abnormalities. 30842647;39979680 False 3 100;0;0 6.447 False ENSG00000185347 ENSG00000185347 HGNC:20127 C1QBP gene C1QBP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies 28942965 False 3 50;50;0 6.447 False ENSG00000108561 ENSG00000108561 HGNC:1243 C21orf2 gene C21orf2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Axial Spondylometaphyseal Dysplasia 26974433 False 3 50;50;0 6.447 False ENSG00000160226 ENSG00000160226 HGNC:1260 C21orf59 gene C21orf59 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA False 3 50;50;0 6.447 False ENSG00000159079 ENSG00000159079 HGNC:1301 C2CD3 gene C2CD3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME XIV 615948 24997988 False 3 50;50;0 6.447 False ENSG00000168014 ENSG00000168014 HGNC:24564 C2orf71 gene C2orf71 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA 54 613428 27029556;20398886;24780881;20398884 False 3 50;50;0 6.447 False ENSG00000179270 ENSG00000179270 HGNC:34383 C4orf26 gene C4orf26 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AMYELOGENESIS 614832 22901946 False 3 50;50;0 6.447 False ENSG00000174792 ENSG00000174792 HGNC:26300 C5orf42 gene C5orf42 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 614615 False 3 50;50;0 6.447 False ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONE-ROD DYSTROPHY 16 614500 27008867;26854863;25802487;22177090;26865426;25113443 False 3 50;50;0 6.447 False ENSG00000156172 ENSG00000156172 HGNC:27232 CA2 gene CA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OSTEOPETROSIS AUTOSOMAL RECESSIVE TYPE 3 259730 5041390;12566520;8127074;1301935 False 3 50;50;0 6.447 False ENSG00000104267 ENSG00000104267 HGNC:1373 CA5A gene CA5A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY 615751 24530203 False 3 50;50;0 6.447 False ENSG00000174990 ENSG00000174990 HGNC:1377 CA8 gene CA8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 3 613227 21937992;19461874 False 3 50;50;0 6.447 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 28927557;27476654;23934111;29366381;28742085 False 3 50;50;0 6.447 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1B gene CACNA1B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS 618497 30982612 False 3 50;50;0 6.447 False ENSG00000148408 ENSG00000148408 HGNC:1389 CACNA1C gene CACNA1C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;CACNA1C-related disorder 15454078 False 3 50;50;0 6.447 False Other ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1D gene CACNA1D DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES 615474;SINOATRIAL NODE DYSFUNCTION AND DEAFNESS 614896 21131953;23913001 False 3 50;50;0 6.447 False ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1E gene CACNA1E DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesia 30343943 False 3 100;0;0 6.447 False Other ENSG00000198216 ENSG00000198216 HGNC:1392 CACNA1G gene CACNA1G DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL RECESSIVE MENTAL RETARDATION;CACNA1G-related developmental disorder (monoallelic) 21937992 False 3 50;50;0 6.447 False ENSG00000006283 ENSG00000006283 HGNC:1394 CAD gene CAD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Uridine-responsive epileptic encephalopathy 25678555;28007989 False 3 50;50;0 6.447 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMK2A gene CAMK2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 29100089;29560374 False 3 50;50;0 6.447 False ENSG00000070808 ENSG00000070808 HGNC:1460 CAMK2B gene CAMK2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 29100089;29560374 False 3 50;50;0 6.447 False ENSG00000058404 ENSG00000058404 HGNC:1461 CAMK2D gene CAMK2D DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy 38272033 False 3 100;0;0 6.447 False Other ENSG00000145349 ENSG00000145349 HGNC:1462 CAMK2G gene CAMK2G DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522 23033978;30184290 False 3 100;0;0 6.447 False ENSG00000148660 ENSG00000148660 HGNC:1463 CAMSAP1 gene CAMSAP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CAMSAP1-associated neuronal migration disorder 36283405 False 3 100;0;0 6.447 False ENSG00000130559 ENSG00000130559 HGNC:19946 CAMTA1 gene CAMTA1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION 614756 22693284 False 3 50;50;0 6.447 False ENSG00000171735 ENSG00000171735 HGNC:18806 CANT1 gene CANT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 1, OMIM:251450 19853239 False 3 100;0;0 6.447 False ENSG00000171302 ENSG00000171302 HGNC:19721 CAPN15 gene CAPN15 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:619318.0;MONDO:0036189;CAPN15-related oculogastrointestinal neurodevelopmental syndrome 32885237;33410501;40485323;36786328;37596828 False 3 100;0;0 6.447 False ENSG00000103326 ENSG00000103326 HGNC:11182 CAPRIN1 gene CAPRIN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 23849776;35979925 False 3 50;50;0 6.447 False ENSG00000135387 ENSG00000135387 HGNC:6743 CARS gene CARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephaly Developmental Delay and Brittle Hair and Nails 30824121 False 3 50;50;0 6.447 False ENSG00000110619 ENSG00000110619 HGNC:1493 CARS2 gene CARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy with complex movement disorder and regression 25361775;25787132 False 3 50;50;0 6.447 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MENTAL RETARDATION X-LINKED CASK-RELATED 300749;FG SYNDROME TYPE 4 300422;MRX WITH/WITHOUT NYSTAGMUS 300749 34085948;19200522;19165920;21954287;19377476;20029458 False 3 50;50;0 6.447 False ENSG00000147044 ENSG00000147044 HGNC:1497 CASP2 gene CASP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653 21937992 False 3 50;50;0 6.447 False ENSG00000106144 ENSG00000106144 HGNC:1503 CBFB gene CBFB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CBFB-related cleidocranial dysplasia 36241386 False 3 100;0;0 6.447 False ENSG00000067955 ENSG00000067955 HGNC:1539 CBL gene CBL DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA 613563 20694012;20543203;20619386 False 3 50;50;0 6.447 False Other ENSG00000110395 ENSG00000110395 HGNC:1541 CBS gene CBS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CYSTATHIONINE BETA-SYNTHASE DEFICIENCY 236200 8353501;8528202;1301198;10780316;9361025;7506602;8990018;14635102;16479318;10338090;8755636 False 3 50;50;0 6.447 False ENSG00000160200 ENSG00000160200 HGNC:1550 CBX1 gene CBX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CBX1-related neurodevelopmental disorder 37087635 False 3 100;0;0 6.447 False Other ENSG00000108468 ENSG00000108468 HGNC:1551 CC2D1A gene CC2D1A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 608443 16033914 False 3 50;50;0 6.447 False ENSG00000132024 ENSG00000132024 HGNC:30237 CC2D2A gene CC2D2A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 9 612285;COACH SYNDROME 216360;MECKEL SYNDROME, TYPE 6 612284 18513680;22246503;18387594;23351400;20671153;19777577;2929661;19574260;8862632;18950740 False 3 50;50;0 6.447 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCBE1 gene CCBE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 235510 19935664 False 3 50;50;0 6.447 False ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC103 gene CCDC103 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA 22581229 False 3 50;50;0 6.447 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA 23261303;23261302 False 3 50;50;0 6.447 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC115 gene CCDC115 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Disorder of Golgi homeostasis 26833332 False 3 50;50;0 6.447 False ENSG00000136710 ENSG00000136710 HGNC:28178 CCDC151 gene CCDC151 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILLARY DYSKINEASIA 616037 25192045 False 3 50;50;0 6.447 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC22 gene CCDC22 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SYNDROMIC X-LINKED INTELLECTUAL DISABILITY False 3 50;50;0 6.447 False ENSG00000101997 ENSG00000101997 HGNC:28909 CCDC32 gene CCDC32 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CCDC32-associated neurodevelopmental syndrome 35451546;32307552 False 3 100;0;0 6.447 False ENSG00000128891 ENSG00000128891 HGNC:28295 CCDC39 gene CCDC39 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 14 613807 21131972 False 3 50;50;0 6.447 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 15 613808 21131974 False 3 50;50;0 6.447 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC47 gene CCDC47 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Woolly Hair Liver Dysfunction Dysmorphic Features and Global Developmental Delay 30401460 False 3 50;50;0 6.447 False ENSG00000108588 ENSG00000108588 HGNC:24856 CCDC65 gene CCDC65 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA False 3 50;50;0 6.447 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCDC8 gene CCDC8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal THREE M SYNDROME 3 614205 21737058 False 3 50;50;0 6.447 False ENSG00000169515 ENSG00000169515 HGNC:25367 CCDC88A gene CCDC88A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PEHO-like syndrome 26917597 False 3 50;50;0 6.447 False ENSG00000115355 ENSG00000115355 HGNC:25523 CCDC88C gene CCDC88C DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 236600 23042809 False 3 50;50;0 6.447 False ENSG00000015133 ENSG00000015133 HGNC:19967 CCND2 gene CCND2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 603387 24705253 False 3 50;50;0 6.447 False Other ENSG00000118971 ENSG00000118971 HGNC:1583 CCNO gene CCNO DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 29 615872 24747639 False 3 50;50;0 6.447 False ENSG00000152669 ENSG00000152669 HGNC:18576 CCT3 gene CCT3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT3-related neurodevelopmental disorder with hypomyelination of white matter, OMIM:621034 39480921 False 3 100;0;0 6.447 False ENSG00000163468 ENSG00000163468 HGNC:1616 CCT6A gene CCT6A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT6A-related neurodevelopmental disorder with or without brain abnormalities 39480921 False 3 100;0;0 6.447 False ENSG00000146731 ENSG00000146731 HGNC:1620 CD151 gene CD151 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS 609057 15265795 False 3 50;50;0 6.447 False ENSG00000177697 ENSG00000177697 HGNC:1630 CDC42 gene CDC42 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDC42-related Neurodevelopmental Disorder 26708094;29394990;26386261 False 3 100;0;0 6.447 False ENSG00000070831 ENSG00000070831 HGNC:1736 CDC45 gene CDC45 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin Syndrome and Craniosynostosis 27374770 False 3 50;50;0 6.447 False ENSG00000093009 ENSG00000093009 HGNC:1739 CDC6 gene CDC6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEIER-GORLIN SYNDROME 5 613805 11477602 False 3 50;50;0 6.447 False ENSG00000094804 ENSG00000094804 HGNC:1744 CDH1 gene CDH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharo-cheiro-dontic syndrome 100000;29348693 False 3 50;50;0 6.447 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDH11 gene CDH11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CDH11-related, OMIM:211380 30194892;28988429;29271567;34278706 False 3 100;0;0 6.447 False ENSG00000140937 ENSG00000140937 HGNC:1750 CDH2 gene CDH2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects 31585109;31650526 False 3 50;50;0 6.447 False ENSG00000170558 ENSG00000170558 HGNC:1759 CDH23 gene CDH23 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal USHER SYNDROME TYPE 1D 601067;DEAFNESS AUTOSOMAL RECESSIVE TYPE 12 601386 21228398;17850630;12075507;11138009;15829536;11090341;15537665 False 3 50;50;0 6.447 False ENSG00000107736 ENSG00000107736 HGNC:13733 CDH3 gene CDH3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EEM SYNDROME 225280;HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY 601553 15805154;22140374;11544476;12445216 False 3 50;50;0 6.447 False ENSG00000062038 ENSG00000062038 HGNC:1762 CDK13 gene CDK13 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease 27479907;29222009;29021403;28807008;29393965 False 3 50;50;0 6.447 False ENSG00000065883 ENSG00000065883 HGNC:1733 CDK19 gene CDK19 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDK19-associated Intellectual Disability and Epileptic Encephalopathy 32330417 False 3 100;0;0 6.447 False ENSG00000155111 ENSG00000155111 HGNC:19338 CDK5RAP2 gene CDK5RAP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936 32015000 False 3 50;50;0 6.447 False ENSG00000136861 ENSG00000136861 HGNC:18672 CDK8 gene CDK8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNDROMIC INTELLECTUAL DISABILITY 30905399 False 3 50;50;0 6.447 False ENSG00000132964 ENSG00000132964 HGNC:1779 CDKL5 gene CDKL5 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2 300672 35934918;17993579;18809835;19396824;15499549;15689447;19793311;15492925;16611748;16813600;19241098 False 3 50;50;0 6.447 False ENSG00000008086 ENSG00000008086 HGNC:11411 CDKN1C gene CDKN1C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) BECKWITH-WIEDEMANN SYNDROME 130650;IMAGe Syndrome 9341892;8841187;14997421;24624461;20503313;22634751;28508599 False 3 50;50;0 6.447 False ENSG00000129757 ENSG00000129757 HGNC:1786 CDON gene CDON DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 11 614226 21802063 False 3 50;50;0 6.447 False ENSG00000064309 ENSG00000064309 HGNC:17104 CDT1 gene CDT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEIER-GORLIN SYNDROME 4 613804 21358632;11992493 False 3 50;50;0 6.447 False ENSG00000167513 ENSG00000167513 HGNC:24576 CELF2 gene CELF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CELF2-related neurodevelopmental disorder 33131106 False 3 100;0;0 6.447 False ENSG00000048740 ENSG00000048740 HGNC:2550 CELF4 gene CELF4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CELF4-related neurodevelopmental disorder with overgrowth 40108438 False 3 100;0;0 6.447 False ENSG00000101489 ENSG00000101489 HGNC:14015 CENPF gene CENPF DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605 27300082;26820108;28407396 False 3 50;50;0 6.447 False ENSG00000117724 ENSG00000117724 HGNC:1857 CENPJ gene CENPJ DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SECKEL SYNDROME TYPE 4 613676;MICROCEPHALY PRIMARY TYPE 6 608393 20522431;20978018;16900296;12843329;15793586 False 3 50;50;0 6.447 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP104 gene CEP104 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781 26477546 False 3 50;50;0 6.447 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP135 gene CEP135 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION 614673 22521416 False 3 50;50;0 6.447 False ENSG00000174799 ENSG00000174799 HGNC:29086 CEP152 gene CEP152 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY PRIMARY TYPE 4 604321;SECKEL SYNDROME TYPE 5 613823 21131973 False 3 50;50;0 6.447 False ENSG00000103995 ENSG00000103995 HGNC:29298 CEP290 gene CEP290 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 14 209900;LEBER CONGENITAL AMAUROSIS TYPE 10 611755;JOUBERT SYNDROME TYPE 5 610188;SENIOR-LOKEN SYNDROME TYPE 6 610189;MECKEL SYNDROME TYPE 4 611134 17705300;16682970;17554762;22355252;17564967;17564974;18327255;16682973;20690115;16909394 False 3 50;50;0 6.447 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 15 614464 22246503 False 3 50;50;0 6.447 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP57 gene CEP57 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 614114 21552266;12116237 False 3 50;50;0 6.447 False ENSG00000166037 ENSG00000166037 HGNC:30794 CEP63 gene CEP63 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SECKEL SYNDROME 6 614728 21983783 False 3 50;50;0 6.447 False ENSG00000182923 ENSG00000182923 HGNC:25815 CEP83 gene CEP83 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE NEPHRONOPHTHISIS AND INTELLECTUAL DISABILITY 24882706 False 3 50;50;0 6.447 False ENSG00000173588 ENSG00000173588 HGNC:17966 CEP85L gene CEP85L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEP85L-associated posterior-predominant lissencephaly, OMIM:618873 32097630 False 3 100;0;0 6.447 False ENSG00000111860 ENSG00000111860 HGNC:21638 CFC1 gene CFC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CFC1-RELATED CONOTRUNCAL HEART MALFORMATIONS 319372 False 3 50;50;0 6.447 False ENSG00000136698 ENSG00000136698 HGNC:18292 CFL2 gene CFL2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEMALINE MYOPATHY 7 610687 17160903 False 3 50;50;0 6.447 False ENSG00000165410 ENSG00000165410 HGNC:1875 CHAMP1 gene CHAMP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 27148580;26340335;26751395;35271727;36106092 False 3 50;50;0 6.447 False ENSG00000198824 ENSG00000198824 HGNC:20311 CHD1 gene CHD1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHD1-related neurodevelopment disorder 28866611 False 3 100;0;0 6.447 False ENSG00000153922 ENSG00000153922 HGNC:1915 CHD2 gene CHD2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 23708187 False 3 50;50;0 6.447 False ENSG00000173575 ENSG00000173575 HGNC:1917 CHD3 gene CHD3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrocephaly and impaired speech and language 30397230 False 3 50;50;0 6.447 False ENSG00000170004 ENSG00000170004 HGNC:1918 CHD4 gene CHD4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease 27616479;27479907 False 3 50;50;0 6.447 False ENSG00000111642 ENSG00000111642 HGNC:1919 CHD7 gene CHD7 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE SYNDROME 214800;IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM 146110;KALLMANN SYNDROME TYPE 5 612370 16400610;18978652;17661815;17334995;26590800;17937444;15300250;18074359 False 3 50;50;0 6.447 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHD8 gene CHD8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 23160955 False 3 50;50;0 6.447 False ENSG00000100888 ENSG00000100888 HGNC:20153 CHKA gene CHKA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHKA-related neurodevelopmental disorder 35202461 False 3 100;0;0 6.447 False ENSG00000110721 ENSG00000110721 HGNC:1937 CHM gene CHM DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females CHOROIDEREMIA 303100 21905166;1302003;28271586;27070432;7981670;27820636;12827496;8477262;1598901 False 3 50;50;0 6.447 False ENSG00000188419 ENSG00000188419 HGNC:1940 CHMP1A gene CHMP1A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY 614961 23023333 False 3 50;50;0 6.447 False ENSG00000131165 ENSG00000131165 HGNC:8740 CHRDL1 gene CHRDL1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MEGALOCORNEA, X-LINKED 309300 22284829;26020825;25712132 False 3 50;50;0 6.447 False ENSG00000101938 ENSG00000101938 HGNC:29861 CHRNA1 gene CHRNA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290 False 3 50;50;0 6.447 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNA2 gene CHRNA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 25770198;30809122;16826524;25847220 False 3 50;50;0 6.447 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNA3 gene CHRNA3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHRNA3-related congenital anomalies of the kidney and urinary tract 31708116 False 3 100;0;0 6.447 False ENSG00000080644 ENSG00000080644 HGNC:1957 CHRNA4 gene CHRNA4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOCTURNAL FRONTAL LOBE EPILEPSY TYPE 1 600513 7647781 False 3 50;50;0 6.447 False Other ENSG00000101204 ENSG00000101204 HGNC:1958 CHRNB1 gene CHRNB1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314;CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313 8872460;10562302;33296147;27375219;8651643 False 3 100;0;0 6.447 False ENSG00000170175 ENSG00000170175 HGNC:1961 CHRNB2 gene CHRNB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHRNB2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 605375;NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 11062464 False 3 50;50;0 6.447 False Other ENSG00000160716 ENSG00000160716 HGNC:1962 CHRNG gene CHRNG DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000 16826520 False 3 50;50;0 6.447 False ENSG00000196811 ENSG00000196811 HGNC:1967 CHST14 gene CHST14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME MUSCULOCONTRACTURAL TYPE 601776 20533528;20004762 False 3 50;50;0 6.447 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS 143095 19320654;20830804;112567;15098240;18513679;18698629 False 3 50;50;0 6.447 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME 605282 21129727;19952732;21129728;9823490 False 3 50;50;0 6.447 False ENSG00000131873 ENSG00000131873 HGNC:17198 CHUK gene CHUK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COCOON SYNDROME 613630 20961246 False 3 50;50;0 6.447 False ENSG00000213341 ENSG00000213341 HGNC:1974 CIB2 gene CIB2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NONSYNDROMIC DEAFNESS DFNB48 609439;USHER SYNDROME TYPE 1J 614869 23023331;18505454 False 3 50;50;0 6.447 False ENSG00000136425 ENSG00000136425 HGNC:24579 CIC gene CIC DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAPICUA, DROSOPHILA, HOMOLOG OF 612082 35165976;21076407;28288114 False 3 50;50;0 6.447 False ENSG00000079432 ENSG00000079432 HGNC:14214 CISD2 gene CISD2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WOLFRAM SYNDROME TYPE 2 604928 28335035;25056293;17846994;10739754 False 3 50;50;0 6.447 False ENSG00000145354 ENSG00000145354 HGNC:24212 CIT gene CIT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY MICROCEPHALY 615414 27453578 False 3 50;50;0 6.447 False ENSG00000122966 ENSG00000122966 HGNC:1985 CKAP2L gene CKAP2L DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FILIPPI SYNDROME. SYNDACTYLY, TYPE I, WITH MICROCEPHALY AND MENTAL RETARDATION 272440 False 3 50;50;0 6.447 False ENSG00000169607 ENSG00000169607 HGNC:26877 CLCN3 gene CLCN3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLCN3-related Neurodevelopmental disorder with hypotonia and brain abnormalities, OMIM:619512;CLCN3-related Neurodevelopmental disorder with seizures and brain abnormalities, OMIM:619517 34186028 False 3 100;0;0 6.447 False ENSG00000109572 ENSG00000109572 HGNC:2021 CLCN4 gene CLCN4 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INFANTILE EPILEPTIC ENCEPHALOPATHY AND/OR INTELLECTUAL DISABILITY 25644381;27550844;23647072 False 3 50;50;0 6.447 False ENSG00000073464 ENSG00000073464 HGNC:2022 CLCN6 gene CLCN6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLCN6-related Developmental Disorder 33217309;28074849;29667327 False 3 100;0;0 6.447 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLCN7 gene CLCN7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CLCN7-RELATED OSTEOPETROSIS 611490 17033731;11741829;11207362 False 3 50;50;0 6.447 False ENSG00000103249 ENSG00000103249 HGNC:2025 CLCNKB gene CLCNKB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARTTER SYNDROME TYPE 4B 613090 15044642;18310267 False 3 50;50;0 6.447 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN19 gene CLDN19 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT 248190 17033971 False 3 50;50;0 6.447 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLMP gene CLMP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL SHORT BOWEL SYNDROME 615237 22155368 False 3 50;50;0 6.447 False ENSG00000166250 ENSG00000166250 HGNC:24039 CLN3 gene CLN3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 3 204200 7887420;9450775;7553855;19489875 False 3 50;50;0 6.447 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 9662406;18684116;15728307;20157158 False 3 50;50;0 6.447 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEROID LIPOFUSCINOSIS, NEURONAL, 6, OMIM:601780;CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, OMIM:204300 11727201;15996215;11791207 False 3 50;50;0 6.447 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 NORTHERN EPILEPSY VARIANT 610003;NEURONAL CEROID LIPOFUSCINOSIS TYPE 8 600143 16570191;19431184;10508524 False 3 50;50;0 6.447 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLP1 gene CLP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 10 OMIM:615803;Pontocerebellar hypoplasia type 10 MONDO:0014349 24766809;24766810;29307788 False 3 67;33;0 6.447 False ENSG00000172409 ENSG00000172409 HGNC:16999 CLPB gene CLPB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA 616271 25597510;28687938 False 3 50;50;0 6.447 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PERRAULT SYNDROME 23541340 False 3 50;50;0 6.447 False ENSG00000125656 ENSG00000125656 HGNC:2084 CLTC gene CLTC DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Overgrowth intellectual disability;Epilepsy and intellectual disability 26822784;29100083 False 3 50;50;0 6.447 False ENSG00000141367 ENSG00000141367 HGNC:2092 CNKSR2 gene CNKSR2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY WITH EPILEPSY 25644381;22511892 False 3 67;33;0 6.447 False ENSG00000149970 ENSG00000149970 HGNC:19701 CNNM2 gene CNNM2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal CNNM2-related neurodevelopmental disorder with hypomagnesemia;autosomal recessive form 21397062;30026055;24699222 False 3 100;0;0 6.447 False ENSG00000148842 ENSG00000148842 HGNC:103 CNOT1 gene CNOT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown pancreatic agenesis and holoprosencephaly syndrome;HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS 618500 31006513;32553196;31006510 False 3 50;50;0 6.447 False ENSG00000125107 ENSG00000125107 HGNC:7877 CNOT2 gene CNOT2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CNOT2-related neurodevelopmental disorder with hypotonia 36224108;31512373;21299754;31145527 False 3 100;0;0 6.447 False ENSG00000111596 ENSG00000111596 HGNC:7878 CNOT3 gene CNOT3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CNOT3 syndrome 28135719 False 3 50;50;0 6.447 False ENSG00000088038 ENSG00000088038 HGNC:7879 CNOT9 gene CNOT9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CNOT9-related developmental disorder with seizures 37092538 False 3 100;0;0 6.447 False ENSG00000144580 ENSG00000144580 HGNC:10445 CNPY3 gene CNPY3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EARLY ONSET EPILEPTIC ENCEPHALOPATHY 29394991 False 3 50;50;0 6.447 False ENSG00000137161 ENSG00000137161 HGNC:11968 CNTNAP1 gene CNTNAP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LETHAL CONGENITAL CONTRACTURE SYNDROME 7 616286 24319099 False 3 50;50;0 6.447 False ENSG00000108797 ENSG00000108797 HGNC:8011 CNTNAP2 gene CNTNAP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME 610042 11568923;19896112;16571880 False 3 50;50;0 6.447 False ENSG00000174469 ENSG00000174469 HGNC:13830 COASY gene COASY DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 25778941;27021474;28489334;11980892;35499143;36495139;24360804;30089828 False 3 50;50;0 6.447 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG1 gene COG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COG1-CDG 300197 False 3 50;50;0 6.447 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal COG4-CDG 319493;Saul-Wilson syndrome 618150 30290151 False 3 100;0;0 6.447 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COG5-CDG 319494 False 3 50;50;0 6.447 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG7 gene COG7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COG7-CDG 300171 False 3 50;50;0 6.447 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COG8-CDG 300204 False 3 50;50;0 6.447 False ENSG00000213380 ENSG00000213380 HGNC:18623 COL10A1 gene COL10A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SCHMID TYPE METAPHYSEAL CHONDRODYSPLASIA 156500 7607655;9852679;17403716;12554676;8554571;8012364;9468540;8986632;9067753;8004099;10991694;8304336;9525992;7749409 False 3 50;50;0 6.447 False Other ENSG00000123500 ENSG00000123500 HGNC:2185 COL11A1 gene COL11A1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal STICKLER SYNDROME, TYPE II 604841;FIBROCHONDROGENESIS 228520 10573014;17236192;27081569;25091507;25073711;8872475;21035103;9529347;10486316;22499343 False 3 50;50;0 6.447 False ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal WEISSENBACHER-ZWEYMUELLER SYNDROME 184840;AUTOSOMAL RECESSIVE OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA 215150;DEAFNESS AUTOSOMAL DOMINANT TYPE 13 601868;STICKLER SYNDROME TYPE 3 184840;DEAFNESS AUTOSOMAL RECESSIVE TYPE 53 609706 16033917;10581026;16189708;15558753;16637051;7833911;15372529;10677296;7859284;9506662;14234962 False 3 50;50;0 6.447 False ENSG00000204248 ENSG00000204248 HGNC:2187 COL13A1 gene COL13A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Congenital Myasthenic Syndrome Type 19 26626625 False 3 50;50;0 6.447 False ENSG00000197467 ENSG00000197467 HGNC:2190 COL18A1 gene COL18A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Knobloch syndrome, type 1, OMIM:267750 19390655;18484314;10942434;28950998;19160445;27259167;12415512;25456301;30007336;28602933 False 3 50;50;0 6.447 False ENSG00000182871 ENSG00000182871 HGNC:2195 COL1A1 gene COL1A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAFFEY DISEASE 114000;OSTEOGENESIS IMPERFECTA TYPE IIA 166210;OSTEOGENESIS IMPERFECTA TYPE III 259420;COL1A1/2-RELATED OSTEOGENESIS IMPERFECTA 166210;EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COL1A1-RELATED 130060;OSTEOGENESIS IMPERFECTA TYPE I 166200;EHLERS-DANLOS SYNDROME TYPE VIIA 319158 8097422;2339700;12538651;8950680;15728585;8364588;1864604;15024692;2037280;7816518;2794057;1770532;8910493;3403550;3108247;1737847;3082886;2913053;9295084;1988452;8100209;8723681;7881420;2500431;8757037;2309707;2511192;1874719;9067755;34272483;8456809;15864348;8786074;3667599;1634225;7789952;11286507;21834035;18409203;2298750;2295701;1613761;8408653 False 3 50;50;0 6.447 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL25A1 gene COL25A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 616219 25500261 False 3 50;50;0 6.447 False ENSG00000188517 ENSG00000188517 HGNC:18603 COL27A1 gene COL27A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Steel Syndrome 28322503;28276056;31903681;24986830 False 3 100;0;0 6.447 False ENSG00000196739 ENSG00000196739 HGNC:22986 COL2A1 gene COL2A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACHONDROGENESIS TYPE 2 200610;PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE 151210;SPONDYLOPERIPHERAL DYSPLASIA 271700;PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD 608805;SPONDYLOEPIMETAPHYSEAL DYSPLASIA STRUDWICK TYPE 184250;SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA 183900;RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT 609508;KNIEST DYSPLASIA 156550;STICKLER SYNDROME TYPE 1 NON-SYNDROMIC OCULAR 609508 14729840;2339128;3195588;8723097;1429602;8325895;15054848;7849719;7829510;26443184;2543071;16088915;8486375;26626311;8423604;15671297;26358419;7757081;7550321;16752401;1374906;17721977;7981752;25060605;7874117;15316962 False 3 100;0;0 6.447 False ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A1 gene COL4A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PORENCEPHALY 1 175780 False 3 50;50;0 6.447 False Other ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PORENCEPHALY 2 614483 False 3 50;50;0 6.447 False Other ENSG00000134871 ENSG00000134871 HGNC:2203 COL4A3 gene COL4A3 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780;ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 9792860;7633417;7987301;11134255;9269635;7987396 False 3 50;50;0 6.447 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A3BP gene COL4A3BP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 25533962 False 3 50;50;0 6.447 False Other ENSG00000113163 ENSG00000113163 HGNC:2205 COL4A4 gene COL4A4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 7987396;9269635 False 3 50;50;0 6.447 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL6A1 gene COL6A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COL6A1 associated myopathy False 3 67;33;0 6.447 False ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal COL6A2-related Ullrich congenital muscular dystrophy (monoallelic), OMIM:254090;COL6A2-related Ullrich congenital muscular dystrophy (biallelic), OMIM:254090 34167565;15563506;20106987;11381124;16075202;19564581;12218063 False 3 100;0;0 6.447 False ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DYSTONIA 27 616411;ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1 254090 11992252 False 3 50;50;0 6.447 False ENSG00000163359 ENSG00000163359 HGNC:2213 COL9A1 gene COL9A1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal STICKLER SYNDROME TYPE 4 614134;MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 6 614135 16909383;11565064 False 3 50;50;0 6.447 False ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 2 600204;STICKLER SYNDROME, TYPE V 614284 8528240;21671392;10364514;31090205;12244547 False 3 50;50;0 6.447 False ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969;Stickler syndrome 15551337;30450842;10655510;24273071;10090888;31090205 False 3 100;0;0 6.447 False ENSG00000092758 ENSG00000092758 HGNC:2219 COLEC10 gene COLEC10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3MC 28301481;35943032 False 3 50;50;0 6.447 False ENSG00000184374 ENSG00000184374 HGNC:2220 COLEC11 gene COLEC11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 2 265050 2569826;21258343;8933348 False 3 50;50;0 6.447 False ENSG00000118004 ENSG00000118004 HGNC:17213 COPB2 gene COPB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COPB2-associated developmental delay and microcephaly, OMIM:617800;COPB2-related developmental delay and osteopenia 34450031;29036432 False 3 100;0;0 6.447 False ENSG00000184432 ENSG00000184432 HGNC:2232 COQ2 gene COQ2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY 607426 17332895 False 3 50;50;0 6.447 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY, PRIMARY, 7 616276 25658047 False 3 50;50;0 6.447 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY 607426 False 3 50;50;0 6.447 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ9 gene COQ9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY 607426 19375058 False 3 50;50;0 6.447 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME 256000;MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 10767350;15455402;11013136;18499082;10545952;12928484;10647889 False 3 50;50;0 6.447 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX15 gene COX15 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME 256000;MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 3 50;50;0 6.447 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX16 gene COX16 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COX16-related Developmental Disorder 33169484 False 3 100;0;0 6.447 False ENSG00000133983 ENSG00000133983 HGNC:20213 COX6B1 gene COX6B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 3 50;50;0 6.447 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA WITH LINEAR SKIN LESIONS 300887 9747372;23122588 False 3 50;50;0 6.447 False ENSG00000131174 ENSG00000131174 HGNC:2291 CPAMD8 gene CPAMD8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Anterior Segment Dysgenesis 27839872 False 3 50;50;0 6.447 False ENSG00000160111 ENSG00000160111 HGNC:23228 CPS1 gene CPS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY 237300 9711878;19793055;11474210;8486760;17310273 False 3 50;50;0 6.447 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPSF3 gene CPSF3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CPSF3-associated neurodevelopmental disorder with seizures and microcephaly 35121750 False 3 100;0;0 6.447 False ENSG00000119203 ENSG00000119203 HGNC:2326 CRB1 gene CRB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE 600105;LEBER CONGENITAL AMAUROSIS 8 613835 16543197;19140180;11231775;11389483;10508521 False 3 50;50;0 6.447 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRB2 gene CRB2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE 219730 25557780 False 3 50;50;0 6.447 False ENSG00000148204 ENSG00000148204 HGNC:18688 CREBBP gene CREBBP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RUBINSTEIN-TAYBI SYNDROME TYPE 1 180849;CREBBP intellectual disability without typical RTS features 12114483;12566391;30737887;20684013;29460469;27311832;7630403;11331617 False 3 50;50;0 6.447 False ENSG00000005339 ENSG00000005339 HGNC:2348 CRELD1 gene CRELD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRELD1-related neurodevelopmental disorder with hypotonia and seizures, OMIM:620771;CRELD1-related atrioventricular septal defect susceptibility, OMIM:606217 37947183;21080147;22740159;12632326 False 3 67;33;0 6.447 False ENSG00000163703 ENSG00000163703 HGNC:14630 CRIPT gene CRIPT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 615789 24389050 False 3 50;50;0 6.447 False ENSG00000119878 ENSG00000119878 HGNC:14312 CRX gene CRX DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRX-RELATED LEBER CONGENITAL AMAUROSIS LEBER CONGENITAL AMAUROSIS 7 613829 9792858;9390563;15531334;17320181;25270190;9537410;9427255;9931337;12208271 False 3 50;50;0 6.447 False ENSG00000105392 ENSG00000105392 HGNC:2383 CRYAA gene CRYAA DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATARACT, NUCLEAR 123580;CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1 604219 11006246;19182255 False 3 50;50;0 6.447 False ENSG00000160202 ENSG00000160202 HGNC:2388 CRYAB gene CRYAB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRYAB-related alpha-related B crystallinopathy;CRYAB-related myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, OMIM:613869 570292;9731540;11577372;21130652;38212463;19597569;16877416;14681890;30681346;21920752;16505043;21337604;28493373;23590293;32420686 False 3 50;50;0 6.447 False ENSG00000109846 ENSG00000109846 HGNC:2389 CRYBA1 gene CRYBA1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT CONGENITAL ZONULAR WITH SUTURAL OPACITIES 600881 14598164 False 3 50;50;0 6.447 False ENSG00000108255 ENSG00000108255 HGNC:2394 CRYBA4 gene CRYBA4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA ISOLATED WITH CATARACT TYPE 4, OMIM:610426 16960806;15452067;20577656 False 3 100;0;0 6.447 False Other ENSG00000196431 ENSG00000196431 HGNC:2396 CRYBB1 gene CRYBB1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal CATARACT 17, MULTIPLE TYPES, MONOALLELIC;CATARACT 17, MULTIPLE TYPES;CATARACT 17, MULTIPLE TYPES, BIALLELIC 17460281;12360425 False 3 50;50;0 6.447 False ENSG00000100122 ENSG00000100122 HGNC:2397 CRYBB2 gene CRYBB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRYBB2-related cataract, OMIM:601547 27385965;24312286;8812489;10634616;9158139;21245961;18449377;11424921;16179907 False 3 50;50;0 6.447 False ENSG00000244752 ENSG00000244752 HGNC:2398 CRYBB3 gene CRYBB3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 609741 15914629 False 3 50;50;0 6.447 False ENSG00000100053 ENSG00000100053 HGNC:2400 CRYGC gene CRYGC DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT AUTOSOMAL DOMINANT 604219;CATARACT COPPOCK-LIKE 604307 10521291;10914683;12011157 False 3 100;0;0 6.447 False ENSG00000163254 ENSG00000163254 HGNC:2410 CRYGD gene CRYGD DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRYGD-related cataract, OMIM:115700 18079686;17564961;10521291;9927684;12676897;12011157;20508808;10915766 False 3 100;0;0 6.447 False ENSG00000118231 ENSG00000118231 HGNC:2411 CSF1R gene CSF1R DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS 618476 30982608;30982609 False 3 50;50;0 6.447 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSNK2A1 gene CSNK2A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CSNK2A1 syndrome False 3 50;50;0 6.447 False Other ENSG00000101266 ENSG00000101266 HGNC:2457 CSNK2B gene CSNK2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CSNK2B-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000204435 ENSG00000204435 HGNC:2460 CSPP1 gene CSPP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY 24360808 False 3 50;50;0 6.447 False ENSG00000104218 ENSG00000104218 HGNC:26193 CSTA gene CSTA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936 21944047 False 3 50;50;0 6.447 False ENSG00000121552 ENSG00000121552 HGNC:2481 CSTB gene CSTB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UNVERRICHT-LUNDBORG DISEASE 254800 9012407;8596935;9342192;15329070 False 3 50;50;0 6.447 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTBP1 gene CTBP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CTBP1-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000159692 ENSG00000159692 HGNC:2494 CTC1 gene CTC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 612199 22267198;22387016 False 3 50;50;0 6.447 False ENSG00000178971 ENSG00000178971 HGNC:26169 CTCF gene CTCF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 23746550 False 3 50;50;0 6.447 False ENSG00000102974 ENSG00000102974 HGNC:13723 CTDP1 gene CTDP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168 14517542 False 3 50;50;0 6.447 False ENSG00000060069 ENSG00000060069 HGNC:2498 CTNNA2 gene CTNNA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Disordered cortical neuronal migration 30013181 False 3 50;50;0 6.447 False ENSG00000066032 ENSG00000066032 HGNC:2510 CTNNB1 gene CTNNB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075 35880249;30929091;28514307;24614104;27915094;26968164;25326669 False 3 50;50;0 6.447 False ENSG00000168036 ENSG00000168036 HGNC:2514 CTNND1 gene CTNND1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blepharo-cheiro-dontic syndrome 100000;32196547;29348693;28301459 False 3 50;50;0 6.447 False ENSG00000198561 ENSG00000198561 HGNC:2515 CTNND2 gene CTNND2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CTNND2-related neurodevelopmental disorder 25807484;25839933 False 3 100;0;0 6.447 False ENSG00000169862 ENSG00000169862 HGNC:2516 CTNS gene CTNS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CYSTINOSIS ADULT NON-NEPHROPATHIC TYPE 219750;CYSTINOSIS LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE 219900;CYSTINOSIS NEPHROPATHIC TYPE 219800 10673275;10625078;12442267;9792862;11505338;10556299;9537412;11565547;10444339;19863563 False 3 50;50;0 6.447 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTR9 gene CTR9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CTR9-related neurodevelopmental disorder 35468861;35717577;35499524 False 3 100;0;0 6.447 False Other ENSG00000198730 ENSG00000198730 HGNC:16850 CTSA gene CTSA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GALACTOSIALIDOSIS 256540 8968752;9603439;1756715;10944848;8514852 False 3 50;50;0 6.447 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSD gene CTSD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 10 610127 16685649;16670177 False 3 50;50;0 6.447 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PYCNODYSOSTOSIS 265800 10491211;10878663;8703060 False 3 50;50;0 6.447 False ENSG00000143387 ENSG00000143387 HGNC:2536 CTU2 gene CTU2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME, OMIM:618142 31301155 False 3 100;0;0 6.447 False ENSG00000174177 ENSG00000174177 HGNC:28005 CUL3 gene CUL3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CUL3-related developmental disorder (monoallelic) 31696658;32341456;27824329;33097317 False 3 50;50;0 6.447 False ENSG00000036257 ENSG00000036257 HGNC:2553 CUL4B gene CUL4B DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE 300354 17236139 False 3 50;50;0 6.447 False ENSG00000158290 ENSG00000158290 HGNC:2555 CUL7 gene CUL7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-M SYNDROME 1 273750 19225462;17675530;16142236 False 3 50;50;0 6.447 False ENSG00000044090 ENSG00000044090 HGNC:21024 CUX1 gene CUX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT 30014507 False 3 100;0;0 6.447 False ENSG00000257923 ENSG00000257923 HGNC:2557 CUX2 gene CUX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental epileptic encephalopathy 29630738 False 3 50;50;0 6.447 False ENSG00000111249 ENSG00000111249 HGNC:19347 CWC27 gene CWC27 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa, skeletal anomalies and intellectual disability 36718996;28285769 False 3 50;50;0 6.447 False ENSG00000153015 ENSG00000153015 HGNC:10664 CWF19L1 gene CWF19L1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy 25361784;33012273;27016154;26197978;36453471 False 3 100;0;0 6.447 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYB5R3 gene CYB5R3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 319395 False 3 50;50;0 6.447 False ENSG00000100243 ENSG00000100243 HGNC:2873 CYC1 gene CYC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6 615453 23910460 False 3 50;50;0 6.447 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYFIP2 gene CYFIP2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, OMIM:618468 29534297;31689829;30664714;29667327 False 3 100;0;0 6.447 False ENSG00000055163 ENSG00000055163 HGNC:13760 CYP1B1 gene CYP1B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CONGENITAL GLAUCOMA TYPE 3A 231300 9463332;19643970;15342693;19807744;9497261;10227395;9097971;27777502;12372064 False 3 50;50;0 6.447 False ENSG00000138061 ENSG00000138061 HGNC:2597 CYP27A1 gene CYP27A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis 2019602;16278884 False 3 100;0;0 6.447 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPLEGIA 615030 23176821 False 3 50;50;0 6.447 False ENSG00000155016 ENSG00000155016 HGNC:20582 DAG1 gene DAG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C7 613818 21388311 False 3 50;50;0 6.447 False ENSG00000173402 ENSG00000173402 HGNC:2666 DARS gene DARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOMYELINATION WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY. 615281 23643384 False 3 50;50;0 6.447 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105 17384640 False 3 50;50;0 6.447 False ENSG00000117593 ENSG00000117593 HGNC:25538 DAW1 gene DAW1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 52, OMIM:620570 36074124 False 3 100;0;0 6.447 False ENSG00000123977 ENSG00000123977 HGNC:26383 DBT gene DBT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MAPLE SYRUP URINE DISEASEQ 248600 False 3 50;50;0 6.447 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCC gene DCC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability 28250456 False 3 50;50;0 6.447 False ENSG00000187323 ENSG00000187323 HGNC:2701 DCDC2 gene DCDC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RENAL-HEPATIC CILIOPATHY 616217 25557784 False 3 50;50;0 6.447 False ENSG00000146038 ENSG00000146038 HGNC:18141 DCHS1 gene DCHS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PERIVENTRICULAR NEURONAL HETEROTOPIA 24056717 False 3 50;50;0 6.447 False ENSG00000166341 ENSG00000166341 HGNC:13681 DCX gene DCX DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) SUBCORTICAL BAND HETEROTOPIA X-LINKED 300067;LISSENCEPHALY X-LINKED TYPE 1 300067 10441340;9489700;9489699;12552055;11468322 False 3 50;50;0 6.447 False ENSG00000077279 ENSG00000077279 HGNC:2714 DDB1 gene DDB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DDB1-associated neurodevelopmental syndrome 33743206 False 3 100;0;0 6.447 False ENSG00000167986 ENSG00000167986 HGNC:2717 DDB2 gene DDB2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE 278740 10469312;8798680;12812979 False 3 50;50;0 6.447 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDC gene DDC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY 608643 20505134 False 3 50;50;0 6.447 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD1 gene DDHD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPLEGIA 615030 23176821;15786464 False 3 50;50;0 6.447 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COMPLEX HEREDITARY SPASTIC PARAPLEGIA 615033 23176823 False 3 50;50;0 6.447 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDOST gene DDOST DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR 614507 22305527 False 3 50;50;0 6.447 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDR2 gene DDR2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE 271665 19110212;8434618 False 3 50;50;0 6.447 False ENSG00000162733 ENSG00000162733 HGNC:2731 DDX11 gene DDX11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WARSAW BREAKAGE SYNDROME 613398 23033317;20137776 False 3 50;50;0 6.447 False ENSG00000013573 ENSG00000013573 HGNC:2736 DDX17 gene DDX17 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MONDO:0700092;DDX17-related neurodevelopmental disorder 39405200 False 3 100;0;0 6.447 False ENSG00000100201 ENSG00000100201 HGNC:2740 DDX23 gene DDX23 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DDX23-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000174243 ENSG00000174243 HGNC:17347 DDX3X gene DDX3X DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) INTELLECTUAL DIABILITY 30734472;25533962;28371085;30349862;29490693;26235985 False 3 50;50;0 6.447 False ENSG00000215301 ENSG00000215301 HGNC:2745 DDX59 gene DDX59 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OROFACIODIGITAL SYNDROME 23972372 False 3 50;50;0 6.447 False ENSG00000118197 ENSG00000118197 HGNC:25360 DDX6 gene DDX6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 31422817 False 3 50;50;0 6.447 False ENSG00000110367 ENSG00000110367 HGNC:2747 DEAF1 gene DEAF1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autism, intellectual disability, basal ganglia dysfunction and epilepsy;MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828 24726472;26048982;26834045;21076407 False 3 100;0;0 6.447 False ENSG00000177030 ENSG00000177030 HGNC:14677 DEGS1 gene DEGS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY, HYPOMYELINATING, 18, 618404 30620337;31186544 False 3 50;50;0 6.447 False ENSG00000143753 ENSG00000143753 HGNC:13709 DENND5A gene DENND5A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY 27866705 False 3 50;50;0 6.447 False ENSG00000184014 ENSG00000184014 HGNC:19344 DEPDC5 gene DEPDC5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI 604364 10577924;14510823;23542701;9851433;15329069;10825362 False 3 50;50;0 6.447 False ENSG00000100150 ENSG00000100150 HGNC:18423 DHCR24 gene DHCR24 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DESMOSTEROLOSIS 238860 False 3 50;50;0 6.447 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SMITH-LEMLI-OPITZ SYNDROME 270400 20635399;15952211;10677299;11175299;16044199;12949967;9653161;12794707;11857552;10814720;26969503;9634533;9714007;9683613 False 3 50;50;0 6.447 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability 29100083 False 3 50;50;0 6.447 False ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY 613839 21310277;21310276 False 3 50;50;0 6.447 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal POSTAXIAL ACROFACIAL DYSOSTOSIS 263750 19915526 False 3 50;50;0 6.447 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHPS gene DHPS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental Disorder of Hypusination 30661771 False 3 50;50;0 6.447 False ENSG00000095059 ENSG00000095059 HGNC:2869 DHTKD1 gene DHTKD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 2-AMINOADIPIC AND 2-OXOADIPIC ACIDURIA 204750 23141293 False 3 50;50;0 6.447 False ENSG00000181192 ENSG00000181192 HGNC:23537 DHX30 gene DHX30 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental Disorder 29100085 False 3 50;50;0 6.447 False ENSG00000132153 ENSG00000132153 HGNC:16716 DHX9 gene DHX9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DHX9-related neurodevelopmental disorder and Charcot-Marie-Tooth disease 37467750 False 3 100;0;0 6.447 False ENSG00000135829 ENSG00000135829 HGNC:2750 DIP2C gene DIP2C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIP2C-related developmental disorder with speech delay 38421105 False 3 100;0;0 6.447 False ENSG00000151240 ENSG00000151240 HGNC:29150 DIS3L2 gene DIS3L2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PERLMAN SYNDROME 267000 6093533;10508986;22306653 False 3 50;50;0 6.447 False ENSG00000144535 ENSG00000144535 HGNC:28648 DKC1 gene DKC1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females DYSKERATOSIS CONGENITA, X-LINKED, 305000;DKC1-RELATED DYSKERATOSIS CONGENITA 314912 False 3 50;50;0 6.447 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLAT gene DLAT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PYRUVATE DEHYDROGENASE E2 DEFICIENCY 245348 16049940 False 3 50;50;0 6.447 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY 248600;LEIGH SYNDROME 256000 23290025;8968745 False 3 50;50;0 6.447 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLG3 gene DLG3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 90 300189 False 3 50;50;0 6.447 False ENSG00000082458 ENSG00000082458 HGNC:2902 DLG4 gene DLG4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DLG4 related intellectual disability 27479843 False 3 50;50;0 6.447 False ENSG00000132535 ENSG00000132535 HGNC:2903 DLL1 gene DLL1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DLL1-related neurodevelopmental disorder with nonspecific brain abnormalities, with or without seizures, OMIM:618709 37204857;36590296;31353024 False 3 50;50;0 6.447 False ENSG00000198719 ENSG00000198719 HGNC:2908 DLL3 gene DLL3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOCOSTAL DYSOSTOSIS TYPE 1 277300 2805381;10742114;12791036 False 3 50;50;0 6.447 False ENSG00000090932 ENSG00000090932 HGNC:2909 DLL4 gene DLL4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS-OLIVER SYNDROME 6 616589 26299364 False 3 50;50;0 6.447 False ENSG00000128917 ENSG00000128917 HGNC:2910 DMD gene DMD DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females DUCHENNE MUSCULAR DYSTROPHY 310200;BECKER MUSCULAR DYSTROPHY 300376;CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 15643612;7581396;10909857;7881286;7981590;17024373;8361506;8279470;1513469;1757094;8199594;8281150;8301652;12673664;8401539;12754707;12632325;8499922;1301174;12794683;8817332;1549596;12522557;1383546;8401582;1601417;8364587;2071150;8789442;1632439;9683584;9410897;8401537;7951253;9170407;1307253 False 3 50;50;0 6.447 False ENSG00000198947 ENSG00000198947 HGNC:2928 DMP1 gene DMP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOPHOSPHATEMIC RICKETS, AR 241520 17033621;17033625 False 3 50;50;0 6.447 False ENSG00000152592 ENSG00000152592 HGNC:2932 DNAAF3 gene DNAAF3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINEASIA 606763 22387996;10745040 False 3 50;50;0 6.447 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSPLASIA 23872636 False 3 50;50;0 6.447 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 18 614874 23040496 False 3 50;50;0 6.447 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH5 gene DNAH5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 3 27637300 False 3 50;50;0 6.447 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Motile Cilia Defects and Situs Inversus 30471718;30471717 False 3 50;50;0 6.447 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAJC12 gene DNAJC12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, Dystonia, and Intellectual Disability 28132689 False 3 50;50;0 6.447 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNM1 gene DNM1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY 36413998;34172529;25262651 False 3 50;50;0 6.447 False ENSG00000106976 ENSG00000106976 HGNC:2972 DNM1L gene DNM1L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DNM1L-related developmental disorder (monoallelic) 26604000;26992161;30850373;27328748;30939602;29877124;31475481;30801875;31587467 False 3 100;0;0 6.447 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNMT3A gene DNMT3A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tatton-Brown Rahman syndrome (OVERGROWTH SYNDROME WITH INTELLECTUAL DISABILITY), 615879;Microcephalic primordial dwarfism 24614070;29900417;28475857 False 3 100;0;0 6.447 False ENSG00000119772 ENSG00000119772 HGNC:2978 DNMT3B gene DNMT3B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 242860 12239717;10555141;10647011 False 3 50;50;0 6.447 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:616433.0;MONDO:0014637;DOCK2-related severe combined immunodeficiency 34872585;26083206;36541113;30838481;33928462 False 3 100;0;0 6.447 False ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK3 gene DOCK3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DOCK3-related neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia;MONDO:0032661;OMIM:618292.0 29130632;30976111;28195318;40151040 False 3 100;0;0 6.447 False ENSG00000088538 ENSG00000088538 HGNC:2989 DOCK6 gene DOCK6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ADAMS-OLIVER SYNDROME 2 614219 21820096 False 3 50;50;0 6.447 False ENSG00000130158 ENSG00000130158 HGNC:19189 DOCK7 gene DOCK7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 615859 24814191 False 3 50;50;0 6.447 False ENSG00000116641 ENSG00000116641 HGNC:19190 DOCK8 gene DOCK8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME AUTOSOMAL RECESSIVE 243700 19776401 False 3 50;50;0 6.447 False ENSG00000107099 ENSG00000107099 HGNC:19191 DOHH gene DOHH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DOHH-related neurodevelopmental disorder 35858628 False 3 100;0;0 6.447 False ENSG00000129932 ENSG00000129932 HGNC:28662 DOLK gene DOLK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 22242004;17273964 False 3 50;50;0 6.447 False ENSG00000175283 ENSG00000175283 HGNC:23406 DOT1L gene DOT1L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nil-Deshwar neurodevelopmental syndrome, OMIM:621265 37827158 False 3 100;0;0 6.447 False Other ENSG00000104885 ENSG00000104885 HGNC:24948 DPAGT1 gene DPAGT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2 614750;DPAGT1-CDG 300129 22742743 False 3 50;50;0 6.447 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPF2 gene DPF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coffin Siris like disorder 29429572;35607970 False 3 50;50;0 6.447 False Other ENSG00000133884 ENSG00000133884 HGNC:9964 DPH5 gene DPH5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DPH5-related neurodevelopmental disorder 35482014 False 3 100;0;0 6.447 False ENSG00000117543 ENSG00000117543 HGNC:24270 DPM1 gene DPM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 10642597;10642602 False 3 50;50;0 6.447 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM3 gene DPM3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O 612937 35932216;19576565 False 3 50;50;0 6.447 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYSL5 gene DPYSL5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DPYSL5-related developmental disorder (monoallelic) 33894126 False 3 100;0;0 6.447 False ENSG00000157851 ENSG00000157851 HGNC:20637 DRC1 gene DRC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILARY DYSKINEASIA 244400 23354437 False 3 50;50;0 6.447 False ENSG00000157856 ENSG00000157856 HGNC:24245 DRG1 gene DRG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0957990;OMIM:620641.0;DRG1-related neurodevelopmental disorder with microcephaly and dysmorphic facial features (Tan-Almurshedi syndrome) 37179472 False 3 100;0;0 6.447 False ENSG00000185721 ENSG00000185721 HGNC:3029 DSG1 gene DSG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEVERE DERMATITIS, MULTIPLE ALLERGIES AND METABOLIC WASTING, 615508 23974871 False 3 50;50;0 6.447 False ENSG00000134760 ENSG00000134760 HGNC:3048 DSP gene DSP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DSP-related developmental disorder 33057194 False 3 100;0;0 6.447 False ENSG00000096696 ENSG00000096696 HGNC:3052 DSPP gene DSPP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II 125490;DEAFNESS AUTOSOMAL DOMINANT TYPE 39 WITH DENTINOGENESIS IMPERFECTA 1 605594 18456718;11175779;11175790;14758537 False 3 33;33;33 6.447 False ENSG00000152591 ENSG00000152591 HGNC:3054 DSTYK gene DSTYK DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1 610805;Autosomal Recessive Complicated Spastic Paraparesis SPG23 23862974;28157540 False 3 50;50;0 6.447 False ENSG00000133059 ENSG00000133059 HGNC:29043 DVL1 gene DVL1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT ROBINOW SYNDROME 25817016 False 3 50;50;0 6.447 False Other ENSG00000107404 ENSG00000107404 HGNC:3084 DVL3 gene DVL3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT ROBINOW SYNDROME 26924530 False 3 50;50;0 6.447 False Other ENSG00000161202 ENSG00000161202 HGNC:3087 DYM gene DYM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DYGGVE-MELCHIOR-CLAUSEN SYNDROME 223800;SMITH-MCCORT DYSPLASIA 607326 16097008;19005420;12554689;12491225 False 3 50;50;0 6.447 False ENSG00000141627 ENSG00000141627 HGNC:21317 DYNC1H1 gene DYNC1H1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, AD 158600;SEVERE ID WITH NEURONAL MIGRATION DISORDER 600112 22368300;27066557;28554554;27331017;30122514;25484024;25609763;24307404;29306600;28193117;22459677 False 3 50;50;0 6.447 False ENSG00000197102 ENSG00000197102 HGNC:2961 DYNC1I2 gene DYNC1I2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES 618492 31079899 False 3 50;50;0 6.447 False ENSG00000077380 ENSG00000077380 HGNC:2964 DYNC2H1 gene DYNC2H1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ASPHYXIATING THORACIC DYSTROPHY TYPE 3 613091;SHORT RIB-POLYDACTYLY SYNDROME TYPE 3 263510 19442771;19361615 False 3 50;50;0 6.447 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DYNC2LI1-related short-rib polydactyly, OMIM:617088 26077881;33030252;26130459;28857138 False 3 100;0;0 6.447 False ENSG00000138036 ENSG00000138036 HGNC:24595 DYRK1A gene DYRK1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 7 614104 25641759;25707398;28053047;21294719;31263215;25944381;23160955;31803247;26922654;25920557;23099646;29034068 False 3 50;50;0 6.447 False ENSG00000157540 ENSG00000157540 HGNC:3091 EBF3 gene EBF3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypotonia, ataxia, and delayed development syndrome OMIM:617330;hypotonia, ataxia, and delayed development syndrome MONDO:0015021 28017372;28017370;28017373 False 3 50;50;0 6.447 False ENSG00000108001 ENSG00000108001 HGNC:19087 EBP gene EBP DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CHONDRODYSPLASIA PUNCTATA 2, X-LINKED 302960 10942423;10391218;11038443;10391219;12503101 False 3 50;50;0 6.447 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECEL1 gene ECEL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DISTAL ARTHROGRYPOSIS TYPE 5D 615065 23261301 False 3 50;50;0 6.447 False ENSG00000171551 ENSG00000171551 HGNC:3147 ECHS1 gene ECHS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY 25125611;29575569;26000322;35856138;25393721 False 3 100;0;0 6.447 False ENSG00000127884 ENSG00000127884 HGNC:3151 ECM1 gene ECM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LIPOID PROTEINOSIS OF URBACH AND WIETHE, OMIM:247100 25529926;25465029;28434238 False 3 100;0;0 6.447 False ENSG00000143369 ENSG00000143369 HGNC:3153 EDA gene EDA DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females TOOTH AGENESIS SELECTIVE X-LINKED TYPE 1 313500;ECTODERMAL DYSPLASIA TYPE 1 305100 9683615;17066260;16583127;9856856;19921643;12949972;17256800;19264582;8696334;9507389;18657636 False 3 50;50;0 6.447 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 10431241;16435307;20979233 False 3 50;50;0 6.447 False ENSG00000135960 ENSG00000135960 HGNC:2895 EDEM3 gene EDEM3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EDEM3-related congenital disorder of glycosylation, OMIM:619493 34143952 False 3 100;0;0 6.447 False ENSG00000116406 ENSG00000116406 HGNC:16787 EDN1 gene EDN1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal AURICULOCONDYLAR SYNDROME 602483 24268655 False 3 50;50;0 6.447 False ENSG00000078401 ENSG00000078401 HGNC:3176 EDNRA gene EDNRA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367 25772936 False 3 50;50;0 6.447 False Other ENSG00000151617 ENSG00000151617 HGNC:3179 EDNRB gene EDNRB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ABCD SYNDROME, OMIM:600501 7778600;11891690 False 3 50;50;0 6.447 False ENSG00000136160 ENSG00000136160 HGNC:3180 EED gene EED DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver-like overgrowth syndrome 27868325;27193220;25787343;28475857 False 3 50;50;0 6.447 False ENSG00000074266 ENSG00000074266 HGNC:3188 EEF1A2 gene EEF1A2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INFANTILE EPILEPTIC ENCEPHALOPATHY 32196822;23647072 False 3 50;50;0 6.447 False Other ENSG00000101210 ENSG00000101210 HGNC:3192 EFEMP2 gene EFEMP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OMIM:614437 29362193;17937443;30140196;19664000;28673110;16685658;22440127;24276535;23212998 False 3 100;0;0 6.447 False ENSG00000172638 ENSG00000172638 HGNC:3219 EFL1 gene EFL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0044205;OMIM:617941.0;EFL1-related Shwachman-Diamond syndrome 31151987;29970384;28331068 False 3 100;0;0 6.447 False ENSG00000140598 ENSG00000140598 HGNC:25789 EFNB1 gene EFNB1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CRANIOFRONTONASAL SYNDROME, OMIM:304110 15124102;15166289;16685650 False 3 50;50;0 6.447 False ENSG00000090776 ENSG00000090776 HGNC:3226 EFTUD2 gene EFTUD2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY 610536 27670155;23879989;22541558;19334086;28643921;23188108;25387991;25735261;31413053;30343593;16760738;22305528;23239648;26507355;24470203 False 3 50;50;0 6.447 False ENSG00000108883 ENSG00000108883 HGNC:30858 EGR2 gene EGR2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEUROPATHY, CONGENITAL HYPOMYELINATING, 1 605253 False 3 50;50;0 6.447 False ENSG00000122877 ENSG00000122877 HGNC:3239 EHMT1 gene EHMT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kleefstra syndrome 27123477;23232695;16826528;28361100;19264732;28498556 False 3 50;50;0 6.447 False ENSG00000181090 ENSG00000181090 HGNC:24650 EIF2AK2 gene EIF2AK2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EIF2AK2-associated Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation 32197074 False 3 100;0;0 6.447 False ENSG00000055332 ENSG00000055332 HGNC:9437 EIF2AK3 gene EIF2AK3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WOLCOTT-RALLISON SYNDROME 226980 7551159;12960215;16813601;10932183 False 3 50;50;0 6.447 False ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B4 gene EIF2B4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EIF2B4-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 30073106;26043506;25089094;31385086;18539998;14572143 False 3 100;0;0 6.447 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EIF2B5-RELATED LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, OMIM:603896 28939701;25457085;25230711;25089094;25758335;14572143;15776425 False 3 100;0;0 6.447 False ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2S3 gene EIF2S3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Syndromic ID with severe microcephaly 23063529;27333055 False 3 50;50;0 6.447 False ENSG00000130741 ENSG00000130741 HGNC:3267 EIF3A gene EIF3A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EIF3A-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism;MONDO:0100038 41033306 False 3 100;0;0 6.447 False ENSG00000107581 ENSG00000107581 HGNC:3271 EIF3B gene EIF3B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EIF3B-related neurodevelopmental disorder with cardiac anomalies and craniofacial dysmorphism 41033306 False 3 100;0;0 6.447 False ENSG00000106263 ENSG00000106263 HGNC:3280 EIF3F gene EIF3F DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EIF3F related developmental disorder 30409806 False 3 100;0;0 6.447 False ENSG00000175390 ENSG00000175390 HGNC:3275 EIF4A2 gene EIF4A2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal recessive EIF4A2-related neurodevelopmental disorder;Autosomal dominant EIF4A2-related neurodevelopmental disorder with hypotonia and epilepsy 36528028 False 3 100;0;0 6.447 False ENSG00000156976 ENSG00000156976 HGNC:3284 EIF4A3 gene EIF4A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RICHIERI-COSTA-PEREIRA SYNDROME 24360810 False 3 50;50;0 6.447 False ENSG00000141543 ENSG00000141543 HGNC:18683 EIF5A gene EIF5A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EIF5A-related craniofacial-neurodevelopmental disorder 33547280 False 3 100;0;0 6.447 False ENSG00000132507 ENSG00000132507 HGNC:3300 ELAC2 gene ELAC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ISOLATED COMPLEX I DEFICIENCY 252010 23849775;27769300 False 3 50;50;0 6.447 False ENSG00000006744 ENSG00000006744 HGNC:14198 ELMO2 gene ELMO2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intraosseous Vascular Malformation 27476657 False 3 50;50;0 6.447 False ENSG00000062598 ENSG00000062598 HGNC:17233 ELN gene ELN DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ELN-RELATED CUTIS LAXA 314088;SUPRAVALVAR AORTIC STENOSIS 185500 10190538;8132745;8541862;21309044;9215670;11735026;10190324;19844261;11175284;23442826;9215671 False 3 50;50;0 6.447 False ENSG00000049540 ENSG00000049540 HGNC:3327 ELOVL4 gene ELOVL4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457 22100072 False 3 50;50;0 6.447 False ENSG00000118402 ENSG00000118402 HGNC:14415 EMC1 gene EMC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.;Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Biallelic;Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy, Monoallelic 29271071;26942288 False 3 67;33;0 6.447 False ENSG00000127463 ENSG00000127463 HGNC:28957 EMC10 gene EMC10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EMC10-related neurodevelopmental disorder 33531666 False 3 100;0;0 6.447 False ENSG00000161671 ENSG00000161671 HGNC:27609 EMG1 gene EMG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Bowen-Conradi syndrome 26676230;27798105;19463982;25708872 False 3 50;50;0 6.447 False ENSG00000126749 ENSG00000126749 HGNC:16912 ENPP1 gene ENPP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2 613312;ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 208000 20137773;12881724;20137772;15940697;11159191;19206175;22209248;15605415 False 3 50;50;0 6.447 False ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ADAMS OLIVER SYNDROME 23522784 False 3 50;50;0 6.447 False ENSG00000163378 ENSG00000163378 HGNC:28526 EP300 gene EP300 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RUBINSTEIN-TAYBI SYNDROME TYPE 2 613684 19353645;17299436;20014264;15706485 False 3 50;50;0 6.447 False ENSG00000100393 ENSG00000100393 HGNC:3373 EPB41L3 gene EPB41L3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPB41L3-related developmental disorder with delayed myelination and seizures 39292993 False 3 100;0;0 6.447 False ENSG00000082397 ENSG00000082397 HGNC:3380 EPCAM gene EPCAM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL, OMIM:613217 21315192;24048167;24142340;18572020;20034091;26684320;27875355;19820410 False 3 100;0;0 6.447 False ENSG00000119888 ENSG00000119888 HGNC:11529 EPG5 gene EPG5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 242840 23222957;3344762 False 3 50;50;0 6.447 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPRS gene EPRS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Hypomyelinating Leukodystrophy 29576217 False 3 50;50;0 6.447 False ENSG00000136628 ENSG00000136628 HGNC:3418 ERBB3 gene ERBB3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Hirschprung disease with intestinal pseudo-obstruction;LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 607598 17701904 False 3 50;50;0 6.447 False ENSG00000065361 ENSG00000065361 HGNC:3431 ERCC1 gene ERCC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA 229154;CEREBROOCULOFACIOSKELETAL SYNDROME 4 610758 23623389;17273966 False 3 50;50;0 6.447 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730;CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756;TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 9012405;11709541;15220921;9101292;7849702;7920640;9195225;8571952;11443545;7585650;9758621 False 3 50;50;0 6.447 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP B 610651;TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 16947863;4811796;8408834 False 3 50;50;0 6.447 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC4 gene ERCC4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMORDIAL DWARFISM 615272;XFE PROGEROID SYNDROME 610965;XERODERMA PIGMENTOSUM, GROUP F 278760;FANCONI ANEMIA, COMPLEMENTATION GROUP Q 615272 3372781;23623389;17183314;23623386;8797827 False 3 100;0;0 6.447 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC5 gene ERCC5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G 278780 11228268;12060391;7951246;9096355;23255472;11841555;11219864;8818951 False 3 50;50;0 6.447 False ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DE SANCTIS-CACCHIONE SYNDROME 278800;UV-SENSITIVE SYNDROME 609413;CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150;COCKAYNE SYNDROME TYPE B 133540 20456449;9443879;7264357;10739753;18628313;18446857;10196384 False 3 50;50;0 6.447 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC6L2 gene ERCC6L2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BONE MARROW FAILURE SYNDROME 2 615715 24507776 False 3 50;50;0 6.447 False ENSG00000182150 ENSG00000182150 HGNC:26922 ERCC8 gene ERCC8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COCKAYNE SYNDROME TYPE A 216400 14661080;15744458;7664335 False 3 50;50;0 6.447 False ENSG00000049167 ENSG00000049167 HGNC:3439 ERF gene ERF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COMPLEX CRANIOSYNOSTOSIS;Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia 23354439;35852485;27738187 False 3 50;50;0 6.447 False ENSG00000105722 ENSG00000105722 HGNC:3444 ERI1 gene ERI1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ERI1-related brachydactyly and mild neurodevelopmental delay;ERI1-related severe growth restriction and skeletal dysplasia 36208065;37352860;28488351 False 3 100;0;0 6.447 False ENSG00000104626 ENSG00000104626 HGNC:23994 ESAM gene ESAM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ESAM-related neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity 36996813 False 3 100;0;0 6.447 False ENSG00000149564 ENSG00000149564 HGNC:17474 ESCO2 gene ESCO2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SC PHOCOMELIA SYNDROME 269000;ROBERTS SYNDROME 268300 3740099;15821733;495649 False 3 50;50;0 6.447 False ENSG00000171320 ENSG00000171320 HGNC:27230 ETFA gene ETFA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 17412732;7912128;1882842;12815589;1430199;19249206 False 3 50;50;0 6.447 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308;30847515;32550677 False 3 50;50;0 6.447 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLUTARIC ACIDURIA TYPE 2C 231680 False 3 50;50;0 6.447 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ETHYLMALONIC ENCEPHALOPATHY 602473 18593870;14732903;20528888 False 3 50;50;0 6.447 False ENSG00000105755 ENSG00000105755 HGNC:23287 EVC gene EVC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ELLIS-VAN CREVELD SYNDROME 225500;ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530 7628126;21815252;10700184;14217223;12468274;7218275;12571802 False 3 50;50;0 6.447 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACROFACIAL DYSOSTOSIS WEYERS TYPE 193530;ELLIS-VAN CREVELD SYNDROME 225500 16404586 False 3 50;50;0 6.447 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOSC3 gene EXOSC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 34085948 False 3 50;50;0 6.447 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC8 gene EXOSC8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EXOSC8-related pontocerebellar hypoplasia, OMIM:616081 24989451;34210538;38017281 False 3 100;0;0 6.447 False ENSG00000120699 ENSG00000120699 HGNC:17035 EXOSC9 gene EXOSC9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Cerebellar Atrophy with Spinal Motor Neuronopathy 29727687 False 3 50;50;0 6.447 False ENSG00000123737 ENSG00000123737 HGNC:9137 EXPH5 gene EXPH5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INHERITED SKIN FRAGILITY 615028 23176819 False 3 50;50;0 6.447 False ENSG00000110723 ENSG00000110723 HGNC:30578 EXT1 gene EXT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HEREDITARY MULTIPLE EXOSTOSES TYPE 1 133700;TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 2 150230 9326317;7550340;8981950;15253765 False 3 50;50;0 6.447 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EXOSTOSES, MULTIPLE, TYPE 2 133701 9326317 False 3 50;50;0 6.447 False ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neuro immuno skeletal Dysplasia Syndrome 28132690 False 3 50;50;0 6.447 False ENSG00000012232 ENSG00000012232 HGNC:3518 EYA1 gene EYA1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOTORENAL SYNDROME TYPE 1, OMIM:113650 9361030;5365063;16441263;9020840;10655545;19206155 False 3 100;0;0 6.447 False ENSG00000104313 ENSG00000104313 HGNC:3519 EZH1 gene EZH1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal EZH1-related neurodevelopmental disorder 37433783;38814056 False 3 100;0;0 6.447 False ENSG00000108799 ENSG00000108799 HGNC:3526 EZH2 gene EZH2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WEAVER SYNDROME 2 614421 False 3 50;50;0 6.447 False ENSG00000106462 ENSG00000106462 HGNC:3527 FAH gene FAH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TYROSINEMIA TYPE 1 276700 7977370;8829657;1401056;8318997;8364576;8162054;11196105;7757089 False 3 50;50;0 6.447 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KENNY-CAFFEY SYNDROME 127000 23684011 False 3 50;50;0 6.447 False Other ENSG00000166801 ENSG00000166801 HGNC:24725 FAM126A gene FAM126A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532 17928815;16951682 False 3 50;50;0 6.447 False ENSG00000122591 ENSG00000122591 HGNC:24587 FAM149B1 gene FAM149B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Ciliopathy-related syndromic intellectual disability 30905400 False 3 50;50;0 6.447 False ENSG00000138286 ENSG00000138286 HGNC:29162 FAM161A gene FAM161A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA 28 606068 20705278;26574802;20705279;10507729 False 3 50;50;0 6.447 False ENSG00000170264 ENSG00000170264 HGNC:25808 FAM177A1 gene FAM177A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FAM177A1-related neurodevelopmental disorder with macrocephaly;MONDO:0100038 38767059;25558065 False 3 100;0;0 6.447 False ENSG00000151327 ENSG00000151327 HGNC:19829 FAM20A gene FAM20A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME 614253 21549343 False 3 50;50;0 6.447 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RAINE SYNDROME 259775 20825432;17924334;19250384 False 3 50;50;0 6.447 False ENSG00000177706 ENSG00000177706 HGNC:22140 FAM58A gene FAM58A DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) STAR SYNDROME 300707 18297069;28322501;8818947 False 3 50;50;0 6.447 False ENSG00000147382 ENSG00000262919 HGNC:28434 FANCA gene FANCA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP A 227650 12447395;11344308;12827451;10431244;8896564;15523645 False 3 50;50;0 6.447 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females FANCB-RELATED FANCONI ANEMIA 229139 16679491 False 3 50;50;0 6.447 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP C 227645 20869034;8348157;10431244 False 3 50;50;0 6.447 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP D2 227646 11239453 False 3 50;50;0 6.447 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP E 600901 10205272;11001585;9382107 False 3 50;50;0 6.447 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP F 603467 26033879;10615118;9382107 False 3 50;50;0 6.447 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP G 614082 15657175;9806548;12552564;10807541 False 3 50;50;0 6.447 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCI-RELATED FANCONI ANEMIA 234476;FANCONI ANEMIA 229154 False 3 50;50;0 6.447 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCL-RELATED FANCONI ANEMIA 234480;FANCONI ANEMIA 229154 False 3 50;50;0 6.447 False ENSG00000115392 ENSG00000115392 HGNC:20748 FANCM gene FANCM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCM-RELATED FANCONI ANEMIA 287713;FANCONI ANEMIA 229154 False 3 50;50;0 6.447 False ENSG00000187790 ENSG00000187790 HGNC:23168 FAR1 gene FAR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS 25439727 False 3 50;50;0 6.447 False ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurometabolic disorder due to FARS2 deficiency 29326872;27549011;29126765;28043061;27095821 False 3 50;50;0 6.447 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD5 gene FASTKD5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0009723;FASTKD5-related Leigh syndrome 40499538 False 3 100;0;0 6.447 False ENSG00000215251 ENSG00000215251 HGNC:25790 FAT4 gene FAT4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PERIVENTRICULAR NEURONAL HETEROTOPIA;HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 616006;VAN MALDERGEM SYNDROME 615546 24056717 False 3 50;50;0 6.447 False ENSG00000196159 ENSG00000196159 HGNC:23109 FBN1 gene FBN1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT, OMIM:608328;MARFAN SYNDROME, OMIM:154700;SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, OMIM:182212;Marfan Syndrome, biallelic, OMIM:154700 1852208;1631074;31950671;17366579;9241263;7611299;1569206;1301946;11175294;9101298;9837823;15032979;17492313;7762551;23103230;23897642;21594992;8136837;7633409;15287423;12525539;8504310;20979188;10766875;16333834;8281141;23023332;11702223;17568394;20082464;27582083;8101042;8071963;7911051;8040326;21594993;10441597;18412115;8428751;8406497;8430317 False 3 100;0;0 6.447 False ENSG00000166147 ENSG00000166147 HGNC:3603 FBN2 gene FBN2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Contractural arachnodactyly, congenital OMIM:121050;congenital contractural arachnodactyly MONDO:0007363 9737771;11281275;20799338;9106527;33571691;28383543;7493032;25558065;9199560;8900230;10797416 False 3 50;50;0 6.447 False Other ENSG00000138829 ENSG00000138829 HGNC:3604 FBP1 gene FBP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY 229700 7763253;12126934 False 3 50;50;0 6.447 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FATAL ENCEPHALOPATHY, LACTIC ACIDOSIS, AND SEVERE MTDNA DEPLETION IN MUSCLE 23993194 False 3 50;50;0 6.447 False ENSG00000112234 ENSG00000112234 HGNC:13601 FBXO11 gene FBXO11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Variable Neurodevelopmental Disorder 27620904;30679813;30057029 False 3 50;50;0 6.447 False ENSG00000138081 ENSG00000138081 HGNC:13590 FBXO28 gene FBXO28 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FBX028-related developmental and epileptic encephalopathy with profound intellectual disability 30160831;33280099 False 3 100;0;0 6.447 False ENSG00000143756 ENSG00000143756 HGNC:29046 FBXW11 gene FBXW11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNDROMIC INTELLECTUAL DISABILITY 612100 31402090 False 3 50;50;0 6.447 False ENSG00000072803 ENSG00000072803 HGNC:13607 FBXW7 gene FBXW7 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FBXW7-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000109670 ENSG00000109670 HGNC:16712 FDXR gene FDXR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FDXR-related optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 30250212;28965846;33938912;32499495 False 3 100;0;0 6.447 False ENSG00000161513 ENSG00000161513 HGNC:3642 FEM1B gene FEM1B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539;FEM1B-related neurodevelopmental disorder with or without brain abnormalities 31036916;38465576 False 3 100;0;0 6.447 False Other ENSG00000169018 ENSG00000169018 HGNC:3649 FEZF1 gene FEZF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOGONADOTROPIC HYPOGONADISM WITH OR WITHOUT ANOSMIA 616030 25192046 False 3 50;50;0 6.447 False ENSG00000128610 ENSG00000128610 HGNC:22788 FEZF2 gene FEZF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FEZF2-related neurodevelopmental disorder 38425142 False 3 100;0;0 6.447 False ENSG00000153266 ENSG00000153266 HGNC:13506 FGD1 gene FGD1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females AARSKOG-SCOTT SYNDROME 305400 11093277;14560308;16688726;20082460;16353258;7954831;17152066;10930571;11940089;15809997;17847065 False 3 50;50;0 6.447 False ENSG00000102302 ENSG00000102302 HGNC:3663 FGF10 gene FGF10 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LADD SYNDROME 149730 16501574;16630169 False 3 50;50;0 6.447 False ENSG00000070193 ENSG00000070193 HGNC:3666 FGF12 gene FGF12 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 27164707;27872899;27830185 False 3 50;50;0 6.447 False Other ENSG00000114279 ENSG00000114279 HGNC:3668 FGF13 gene FGF13 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) FGF13-related neurodevelopmental disorder (X-linked dominant);FGF13-related neurodevelopmental disorder (hemizygous) 33245860 False 3 100;0;0 6.447 False Other ENSG00000129682 ENSG00000129682 HGNC:3670 FGF14 gene FGF14 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FGF14-related episodic ataxia 30607796;25566820;21600715 False 3 100;0;0 6.447 False ENSG00000102466 ENSG00000102466 HGNC:3671 FGF3 gene FGF3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA AND MICRODONTIA 610706 18435799;21480479;17236138;18701883 False 3 50;50;0 6.447 False ENSG00000186895 ENSG00000186895 HGNC:3681 FGF9 gene FGF9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MULTIPLE SYNOSTOSES SYNDROME TYPE 3 612961 19589401 False 3 50;50;0 6.447 False ENSG00000102678 ENSG00000102678 HGNC:3687 FGFR1 gene FGFR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 2 with or without anosmia, OMIM:147950;Encephalocraniocutaneous lipomatosis, OMIM:613001;PFEIFFER SYNDROME, OMIM:101600;OSTEOGLOPHONIC DYSPLASIA, OMIM:166250;Hartsfield syndrome, OMIM:615465 11807866;15523615;10394936;7874169;15625620;26942290;10690855;7719345;17235395;8434615;7422392;16606836;8841188;23643382;16882753;17360555;18596921;23812909;9150725;16418210;9002682;12627230;10945669;9586546 False 3 50;50;0 6.447 False ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BEARE-STEVENSON CUTIS GYRATA SYNDROME 123790;ANTLEY-BIXLER SYNDROME 207410;FAMILIAL SCAPHOCEPHALY SYNDROME 609579;JACKSON-WEISS SYNDROME 123150;APERT SYNDROME 101200;CROUZON SYNDROME 123500;LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730;ACROCEPHALOSYNDACTYLY TYPE V 101600 7719344;9677057;7987400;7874170;9973282;8696350;19610084;15523492;7607643;9152842;8528214;7581378;7655462;17621648;9002682;22038757 False 3 50;50;0 6.447 False ENSG00000066468 ENSG00000066468 HGNC:3689 FGFR3 gene FGFR3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown THANATOPHORIC DYSPLASIA TYPE 2 187601;THANATOPHORIC DYSPLASIA TYPE 1 187600;MUENKE SYNDROME 602849;ACHONDROPLASIA 100800;CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS 612247;CAMPTODACTYLY TALL STATURE AND HEARING LOSS SYNDROME 610474;LACRIMO-AURICULO-DENTO-DIGITAL SYNDROME 149730;HYPOCHONDROPLASIA 146000 28483234;8845844;7493034;7913883;17033969;16912704;16501574;7758520;11055896;19449430;9452043;7670477;7773297;10215410;7647778;16411219;8078586;8589686;27139183 False 3 50;50;0 6.447 False ENSG00000068078 ENSG00000068078 HGNC:3690 FH gene FH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FUMARASE DEFICIENCY 606812 8200987;22069215 False 3 50;50;0 6.447 False ENSG00000091483 ENSG00000091483 HGNC:3700 FHL1 gene FHL1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED 300696 35607917;19716112;19687455;18179888 False 3 50;50;0 6.447 False ENSG00000022267 ENSG00000022267 HGNC:3702 FIBP gene FIBP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome) 26660953;38102793;36919607;27183861;37218527;37876348 False 3 100;0;0 6.447 False ENSG00000172500 ENSG00000172500 HGNC:3705 FIG4 gene FIG4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J 611228;CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME 216340 17572665;23623387;7496176;34899148;30740813;2319578 False 3 50;50;0 6.447 False ENSG00000112367 ENSG00000112367 HGNC:16873 FILIP1 gene FILIP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FILIP1-related arthrogryposis multiplex congenita with microcephaly 36943452 False 3 100;0;0 6.447 False ENSG00000118407 ENSG00000118407 HGNC:21015 FKBP10 gene FKBP10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BRUCK SYNDROME TYPE 1 20362275;21567934;35278031;20839288 False 3 100;0;0 6.447 False ENSG00000141756 ENSG00000141756 HGNC:18169 FKBP14 gene FKBP14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS False 3 50;50;0 6.447 False ENSG00000106080 ENSG00000106080 HGNC:18625 FKRP gene FKRP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH OR WITHOUT MENTAL RETARDATION TYPE B5 606612;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A5 613153;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C5 607155 11053680;12654965;15121789;11592034;14523375;17336067;11741828;14647208;14652796;11071142;12707439 False 3 50;50;0 6.447 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A4 253800;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C4 611588;CARDIOMYOPATHY DILATED TYPE 1X 611615;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION TYPE B4 613152 21228398;17044012;17878207;19179078;17036286;12601708;9690476;10545611;19342235;14627679 False 3 50;50;0 6.447 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Riboflavin-Responsive and Non-responsive Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. 27259049 False 3 50;50;0 6.447 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLNA gene FLNA DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) PERIVENTRICULAR NODULAR HETEROTOPIA 1 300049;FRONTOMETAPHYSEAL DYSPLASIA 305620;FG SYNDROME TYPE 2 300321;X-LINKED CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION 300048;MELNICK-NEEDLES SYNDROME 309350;Childhood Interstitial Lung Disease;EPILEPTIC ENCEPHALOPATHY;OTOPALATODIGITAL SYNDROME TYPE 1 311300;OTOPALATODIGITAL SYNDROME TYPE 2 304120;TERMINAL OSSEOUS DYSPLASIA 300244 23934111;16596676;8644737;20301567;11914408;16299064;11532987;9883725;28498505;10982965;20014127;23032111;17632775;17431908;23037936;18854860;15654694;14988809;15940695;12612583;8290091 False 3 50;50;0 6.447 False ENSG00000196924 ENSG00000196924 HGNC:3754 FLNB gene FLNB DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal AUTOSOMAL DOMINANT LARSEN SYNDROME 150250;ATELOSTEOGENESIS TYPE 3 108721;ATELOSTEOGENESIS TYPE 1 108720;BOOMERANG DYSPLASIA 112310;SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME 272460 18386804;18257094;14991055;16801345 False 3 50;50;0 6.447 False ENSG00000136068 ENSG00000136068 HGNC:3755 FLT4 gene FLT4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MILROY DISEASE 153100 33067626;10835628;12960217;16924388;19289394;16965327;10856194 False 3 50;50;0 6.447 False ENSG00000037280 ENSG00000037280 HGNC:3767 FLVCR1 gene FLVCR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA 609033 21267618;21070897;9409377;30656474 False 3 50;50;0 6.447 False ENSG00000162769 ENSG00000162769 HGNC:24682 FLVCR2 gene FLVCR2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME 225790 19635601;20518025;25677735;20206334 False 3 50;50;0 6.447 False ENSG00000119686 ENSG00000119686 HGNC:20105 FMN2 gene FMN2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NONSYNDROMIC AUTOSOMAL-RECESSIVE INTELLECTUAL DISABILITY 25480035 False 3 50;50;0 6.447 False ENSG00000155816 ENSG00000155816 HGNC:14074 FMR1 gene FMR1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) FRAGILE X TREMOR/ATAXIA SYNDROME, OMIM:300623;PREMATURE OVARIAN FAILURE SYNDROME TYPE 1, OMIM:311360;FRAGILE X SYNDROME, OMIM:300624 False 3 50;50;0 6.447 False ENSG00000102081 ENSG00000102081 HGNC:3775 FN1 gene FN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondylometaphyseal Dysplasia with Corner Fractures 184255 29100092 False 3 50;50;0 6.447 False ENSG00000115414 ENSG00000115414 HGNC:3778 FOLR1 gene FOLR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY 613068 21937992;19732866 False 3 50;50;0 6.447 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOSL2 gene FOSL2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FOSL2-related neurodevelopmental disorder with scalp and enamel defects 36197437 False 3 100;0;0 6.447 False ENSG00000075426 ENSG00000075426 HGNC:3798 FOXC1 gene FOXC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown IRIDOGONIODYSGENESIS ANOMALY 601631;AXENFELD-RIEGER SYNDROME TYPE 3 602482;PETERS ANOMALY 604229 9792859;18498376;9326342;11170889;9620769;17210863;10713890;19793056;11007653 False 3 50;50;0 6.447 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LYMPHEDEMA-DISTICHIASIS SYNDROME 153400;HEREDITARY LYMPHEDEMA II 241432 11078474;18197197;15523639;14269895;11499682;12114478;12485195;10417285;11371511 False 3 50;50;0 6.447 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXE1 gene FOXE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BAMFORTH-LAZARUS SYNDROME 241850 False 3 50;50;0 6.447 False ENSG00000178919 ENSG00000178919 HGNC:3806 FOXE3 gene FOXE3 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal CONGENITAL PRIMARY APHAKIA 610256;ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 29136273;20361012;20140963;6801987;22204637;3550563;11159941;16826526 False 3 50;50;0 6.447 False ENSG00000186790 ENSG00000186790 HGNC:3808 FOXF1 gene FOXF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS 265380 False 3 50;50;0 6.447 False ENSG00000103241 ENSG00000103241 HGNC:3809 FOXG1 gene FOXG1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL VARIANT OF RETT SYNDROME 613454 18571142;21441262;19564653;19578037 False 3 50;50;0 6.447 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXJ1 gene FOXJ1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry 31630787 False 3 100;0;0 6.447 False ENSG00000129654 ENSG00000129654 HGNC:3816 FOXL2 gene FOXL2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS SYNDROME 110100 12400065;12938087;11175783;17089161;12630957;11468277;11776388;12567411;12529855;21325395 False 3 50;50;0 6.447 False ENSG00000183770 ENSG00000183770 HGNC:1092 FOXN1 gene FOXN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALOPECIA AND T-CELL IMMUNODEFICIENCY 601705 8911612 False 3 50;50;0 6.447 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP1 gene FOXP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 613670 24214399;30092897;20950788;28735298;25853299;29090079;29330474;28884888 False 3 50;50;0 6.447 False ENSG00000114861 ENSG00000114861 HGNC:3823 FOXP2 gene FOXP2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPEECH-LANGUAGE DISORDER 1 602081 2332125;15877281 False 3 50;50;0 6.447 False ENSG00000128573 ENSG00000128573 HGNC:13875 FOXP3 gene FOXP3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females IPEX SYNDROME 304790 14671208;17635943;11137993;11120765;11137992 False 3 50;50;0 6.447 False ENSG00000049768 ENSG00000049768 HGNC:6106 FOXP4 gene FOXP4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FOXP4-related Developmental Disorder 33110267 False 3 100;0;0 6.447 False ENSG00000137166 ENSG00000137166 HGNC:20842 FOXRED1 gene FOXRED1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 20818383;11181577;17262856;15824269;9463323;19185523;11349233;10944442;12616398;20858599;20382551;15159508;21203893;10080174;16200211;22499348;10330338;9837812;23553477 False 3 50;50;0 6.447 False ENSG00000110074 ENSG00000110074 HGNC:26927 FRA10AC1 gene FRA10AC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FRA10AC1-related neurodevelopmental disorder 35871492;35821753;34694367 False 3 100;0;0 6.447 False ENSG00000148690 ENSG00000148690 HGNC:1162 FRAS1 gene FRAS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FRASER SYNDROME 219000 15838507;12766769;18671281;17163535;18203166;16894541 False 3 50;50;0 6.447 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MANITOBA OCULOTRICHOANAL SYNDROME 248450 11332973;17352387 False 3 50;50;0 6.447 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FRASER SYNDROME 219000 False 3 50;50;0 6.447 False ENSG00000150893 ENSG00000150893 HGNC:25396 FRMD5 gene FRMD5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FRMD5-related developmental disorder 36206744 False 3 100;0;0 6.447 False ENSG00000171877 ENSG00000171877 HGNC:28214 FRMD7 gene FRMD7 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females NYSTAGMUS 1, CONGENITAL, X-LINKED 310700 16240070;17962394;18087240;17013395;19072571;21746984;17397053;25678693 False 3 50;50;0 6.447 False ENSG00000165694 ENSG00000165694 HGNC:8079 FRMPD4 gene FRMPD4 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual Disability 25644381 False 3 50;50;0 6.447 False ENSG00000169933 ENSG00000169933 HGNC:29007 FRRS1L gene FRRS1L DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy with continuous spike-and-wave during sleep 27236917;27239025 False 3 50;50;0 6.447 False ENSG00000260230 ENSG00000260230 HGNC:1362 FRYL gene FRYL DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pan-Chung-Bellen syndrome, OMIM:621049;Pan-Chung-Bellen syndrome, MONDO:0975953 38479391 False 3 100;0;0 6.447 False ENSG00000075539 ENSG00000075539 HGNC:29127 FTCD gene FTCD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY 229100 12815595 False 3 50;50;0 6.447 False ENSG00000160282 ENSG00000160282 HGNC:3974 FTL gene FTL DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME 600886 11849230;9414313;9414300;19176363;7493028;9226182;7669675;12200611;9292547;10759702 False 3 50;50;0 6.447 False ENSG00000087086 ENSG00000087086 HGNC:3999 FTSJ1 gene FTSJ1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 44 309549 10398246;15162322;8288232 False 3 50;50;0 6.447 False ENSG00000068438 ENSG00000068438 HGNC:13254 FUCA1 gene FUCA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FUCOSIDOSIS 230000 9762612;2642067;8401503;2012122;8097260;1281988 False 3 50;50;0 6.447 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUK gene FUK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION 30503518 False 3 50;50;0 6.447 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Congenital Disorder of Glycosylation with Defective Fucosylation 29304374 False 3 50;50;0 6.447 False ENSG00000033170 ENSG00000033170 HGNC:4019 FXN gene FXN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FXN-related Friedreich ataxia 22691228;24705334;26704351;22409940;28405347;25566998;10633128;30681346 False 3 100;0;0 6.447 False ENSG00000165060 ENSG00000165060 HGNC:3951 FXR1 gene FXR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FXR1-related congenital myopathy 35393337;30770808 False 3 100;0;0 6.447 False ENSG00000114416 ENSG00000114416 HGNC:4023 FYCO1 gene FYCO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2 610019 21636066;11519376 False 3 50;50;0 6.447 False ENSG00000163820 ENSG00000163820 HGNC:14673 FZD5 gene FZD5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microphthalmia/coloboma 11, OMIM:620731 26908622 False 3 50;50;0 6.447 False Other ENSG00000163251 ENSG00000163251 HGNC:4043 FZD6 gene FZD6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 614157 21665003 False 3 50;50;0 6.447 False ENSG00000164930 ENSG00000164930 HGNC:4044 FZR1 gene FZR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FZR1-related intellectual disability and epilepsy 31318984;34788397 False 3 100;0;0 6.447 False ENSG00000105325 ENSG00000105325 HGNC:24824 GAA gene GAA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCOGEN STORAGE DISEASE TYPE II 232300 9529346;7881425;15668445;7945303;7881422;3865697;1652892;17616415;1898413;8834250 False 3 50;50;0 6.447 False ENSG00000171298 ENSG00000171298 HGNC:4065 GABBR1 gene GABBR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GABBR1-associated neurodevelopmental disorder 36103875 False 3 100;0;0 6.447 False ENSG00000204681 ENSG00000204681 HGNC:4070 GABBR2 gene GABBR2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 29100083;29369404;26740508;25262651;28856709 False 3 50;50;0 6.447 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown JUVENILE MYOCLONIC EPILEPSY 611136;EPILEPTIC ENCEPHALOPATHY 11992121;23934111 False 3 50;50;0 6.447 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRA2 gene GABRA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GABRA2-related epileptic encephalopathy 29422393;29961870;31032849 False 3 100;0;0 6.447 False ENSG00000151834 ENSG00000151834 HGNC:4076 GABRA4 gene GABRA4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GABRA4-related neurodevelopmental disorder with seizures;MONDO:0100038 38565639 False 3 100;0;0 6.447 False Other ENSG00000109158 ENSG00000109158 HGNC:4078 GABRB2 gene GABRB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability 29100083 False 3 50;50;0 6.447 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHIES;CHILDHOOD ABSENCE EPILEPSY TYPE 5 612269 27476654;18514161;23934111 False 3 50;50;0 6.447 False ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GABRD-related neurodevelopmental disorder with epilepsy 25156961;34633442 False 3 100;0;0 6.447 False Other ENSG00000187730 ENSG00000187730 HGNC:4084 GABRG2 gene GABRG2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3 611277;GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 611277 11326274 False 3 50;50;0 6.447 False ENSG00000113327 ENSG00000113327 HGNC:4087 GALC gene GALC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KRABBE DISEASE 245200 8297359;20886637;8786069;21070211 False 3 50;50;0 6.447 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPIMERASE-DEFICIENCY GALACTOSEMIA 230350 9326324;9538513;9973283 False 3 50;50;0 6.447 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GALACTOSEMIA II 230200 10521295;11231902;10790206;7670469 False 3 50;50;0 6.447 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4A 253000 False 3 50;50;0 6.447 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALT gene GALT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GALACTOSEMIA 230400 9012409;1610789;2233247;1897530;10439960;2011574;8869397;9222760 False 3 50;50;0 6.447 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736 8651275;15651030;17101918 False 3 50;50;0 6.447 False ENSG00000130005 ENSG00000130005 HGNC:4136 GAN gene GAN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy 1 11062483;29876741;20949505;30246730;19231187;30532362 False 3 100;0;0 6.447 False ENSG00000261609 ENSG00000261609 HGNC:4137 GAS2L2 gene GAS2L2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Impaired Cilia Orientation and Mucociliary Clearance 30665704 False 3 50;50;0 6.447 False ENSG00000132139 ENSG00000270765 HGNC:24846 GAS8 gene GAS8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA 26387594 False 3 50;50;0 6.447 False ENSG00000141013 ENSG00000141013 HGNC:4166 GATA2 gene GATA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EMBERGER SYNDROME 614038 21670465;2543925;21892158;24227816;22996659;20803646;21242295 False 3 50;50;0 6.447 False ENSG00000179348 ENSG00000179348 HGNC:4171 GATA3 gene GATA3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE, OMIM:146255 25510779;15830275;30396722;29026277;26268891;23291697;26316437;21834031;27387476;19723756;23203342;29593425;29073906;29025137;25771973;21242646;21157112;21120445;11389161;23186964;23052618;16509533;25124981;31885872;19952462;26777049;19248180;24434941;15705923;26514990;26800885;28566604;19253381;30534854;10935639;21399899;28303854;17309062 False 3 100;0;0 6.447 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATA4 gene GATA4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT TYPE 2 607941 17643447;18055909;20659440;12845333;15810002;20347099 False 3 50;50;0 6.447 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001;ATRIOVENTRICULAR SEPTAL DEFECT 5 614474;ATRIAL SEPTAL DEFECT 9 614475 20631719;20581743;8071961;22158542 False 3 50;50;0 6.447 False ENSG00000141448 ENSG00000141448 HGNC:4174 GATAD2B gene GATAD2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NONSPECIFIC SEVERE ID 23644463;31949314 False 3 50;50;0 6.447 False ENSG00000143614 ENSG00000143614 HGNC:30778 GATM gene GATM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718 10762163 False 3 50;50;0 6.447 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GAUCHER DISEASE TYPE 3 231000;GAUCHER DISEASE PERINATAL LETHAL 608013;GAUCHER DISEASE 230800;GAUCHER DISEASE TYPE 1 230800;GAUCHER DISEASE TYPE 2 230900;GAUCHER DISEASE TYPE 3C 231005 False 3 50;50;0 6.447 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA2 gene GBA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE CEREBELLAR ATAXIA WITH SPASTICITY. 23332917 False 3 50;50;0 6.447 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GBE1-associated Glycogen storage disease IV, OMIM:232500 33897756;32455116;27546458;30345254;31747834;32374048;33782433;30228975;30311141;30303820 False 3 100;0;0 6.447 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLUTARICACIDEMIA TYPE 1 231670 11174631;8900228;10699052;7795610;8900227 False 3 50;50;0 6.447 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal DYSTONIA TYPE 5 128230;GTP CYCLOHYDROLASE 1 DEFICIENCY 233910 12552057;9667588;7874165;10208576;17111153;9576537;7730309;11359069;10732814;11486899;10987649 False 3 50;50;0 6.447 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCSH gene GCSH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCINE ENCEPHALOPATHY 605899 36190515 False 3 50;50;0 6.447 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDF1 gene GDF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONOTRUNCAL HEART MALFORMATIONS 217095;TETRALOGY OF FALLOT 187500;TRANSPOSITION OF THE GREAT ARTERIES DEXTRO-LOOPED TYPE 3 613854 32144877;17924340;20413652;28991257;33131162 False 3 50;50;0 6.447 False ENSG00000130283 ENSG00000130283 HGNC:4214 GDF11 gene GDF11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder, OMIM:619122 31215115;34113007 False 3 100;0;0 6.447 False ENSG00000135414 ENSG00000135414 HGNC:4216 GDF5 gene GDF5 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal BRACHYDACTYLY TYPE C 113100;ACROMESOMELIC CHONDRODYSPLASIA GREBE TYPE 200700;ACROMESOMELIC CHONDRODYSPLASIA HUNTER-THOMPSON TYPE 201250;DU PAN SYNDROME 228900;SYMPHALANGISM PROXIMAL SYNDROME 185800;BRACHYDACTYLY TYPE A1 112500;BRACHYDACTYLY TYPE A2 112600;MULTIPLE SYNOSTOSES SYNDROME TYPE 2 610017 16222676;11857750;12124730;16532400;11846737;16127465;2703235;12121354;16892395;12900894;18283415;9288098;10080184;18629880 False 3 50;50;0 6.447 False ENSG00000125965 ENSG00000125965 HGNC:4220 GDF6 gene GDF6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KLIPPEL-FEIL SYNDROME TYPE 1 118100;MICROPHTHALMIA ISOLATED TYPE 4 613094 18425797;21070663;32737436;25457163;19129173 False 3 50;50;0 6.447 False ENSG00000156466 ENSG00000156466 HGNC:4221 GEMIN4 gene GEMIN4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913 30237576;35861185;27878435;25558065 False 3 100;0;0 6.447 False ENSG00000179409 ENSG00000179409 HGNC:15717 GEMIN5 gene GEMIN5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GEMIN5-associated neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM:619333 33963192 False 3 100;0;0 6.447 False ENSG00000082516 ENSG00000082516 HGNC:20043 GFAP gene GFAP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALEXANDER DISEASE 203450 11138011;11567214;12447932;12975300;14557587;12034796 False 3 50;50;0 6.447 False Other ENSG00000131095 ENSG00000131095 HGNC:4235 GFER gene GFER DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GFER-related mitochondrial progressive myopathy with congenital cataract, hearing loss and developmental delay, OMIM:613076 19409522;26018198;28155230 False 3 50;50;0 6.447 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 609060 17160893 False 3 50;50;0 6.447 False ENSG00000168827 ENSG00000168827 HGNC:13780 GHR gene GHR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PITUITARY DWARFISM II 262500 9851797;11468686;9467570;12679461;15536163;2779634;9661642;8488849;2813379;8626815;15001620;9360529;17405847;2233903 False 3 50;50;0 6.447 False ENSG00000112964 ENSG00000112964 HGNC:4263 GJA1 gene GJA1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal HALLERMANN-STREIFF SYNDROME, OMIM:234100;SYNDACTYLY TYPE 3, OMIM:186100;AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA, OMIM:164200;HYPOPLASTIC LEFT HEART SYNDROME, OMIM:241550;AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA, OMIM:257850 15108203;2157843;16816024;14974090;4209752;2309863;12457340;15551259;7815444;21670345;16709485;17256797;14981729;11470490 False 3 100;0;0 6.447 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJA3 gene GJA3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT ZONULAR PULVERULENT CATARACT TYPE 3 601885 15448617;21681855;22312188;10746562;22550389;22876138;10205266 False 3 50;50;0 6.447 False ENSG00000121743 ENSG00000121743 HGNC:4277 GJA8 gene GJA8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT ZONULAR PULVERULENT TYPE 1 116200;CATARACT-MICROCORNEA SYNDROME 116150 16604058;18006672;14627691;9497259;10480374;11846744 False 3 50;50;0 6.447 False ENSG00000121634 ENSG00000121634 HGNC:4281 GJB3 gene GJB3 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644;ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200;DEAFNESS, AUTOSOMAL RECESSIVE False 3 50;50;0 6.447 False ENSG00000188910 ENSG00000188910 HGNC:4285 GJC2 gene GJC2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SPASTIC PARAPLEGIA, 44 613206;LEUKODYSTROPHY, HYPOMYELINATING, 2 608804;LYMPHEDEMA, HEREDITARY, IC 613480 20537300;8733901;18094336;16969684;19056803;15192806 False 3 50;50;0 6.447 False ENSG00000198835 ENSG00000198835 HGNC:17494 GK gene GK DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females GLYCEROL KINASE DEFICIENCY 307030 False 3 50;50;0 6.447 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLB1 gene GLB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GM1-GANGLIOSIDOSIS TYPE 1 230500;MUCOPOLYSACCHARIDOSIS TYPE 4B 253010;GM1-GANGLIOSIDOSIS TYPE 2 230600;GM1-GANGLIOSIDOSIS TYPE 3 230650 1907800;12644936;1606711;10841810;1928092;7586649;1909089;8199591;8213816;10737981;8198123;11511921 False 3 50;50;0 6.447 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLDC-RELATED GLYCINE ENCEPHALOPATHY 605899 10873393;15864413;15851735;15824356;1634607;9621520;10798358;11592811;15236413;9600239;445864;8005589 False 3 50;50;0 6.447 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLDN gene GLDN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Lethal arthroogryposis 27616481 False 3 50;50;0 6.447 False ENSG00000186417 ENSG00000186417 HGNC:29514 GLE1 gene GLE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE 611890 18204449 False 3 50;50;0 6.447 False ENSG00000119392 ENSG00000119392 HGNC:4315 GLI2 gene GLI2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GLI2-RELATED HOLOPROSENCEPHALY 261768 False 3 50;50;0 6.447 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PREAXIAL POLYDACTYLY TYPE IV 269157;GREIG CEPHALOPOLYSYNDACTYLY SYNDROME 175700;POSTAXIAL POLYDACTYLY TYPE A 174200;PALLISTER-HALL SYNDROME 146510 10945658;9054938;10441570 False 3 50;50;0 6.447 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS2 gene GLIS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 7 611498 17618285 False 3 50;50;0 6.447 False ENSG00000126603 ENSG00000126603 HGNC:29450 GLIS3 gene GLIS3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199 12966531 False 3 50;50;0 6.447 False ENSG00000107249 ENSG00000107249 HGNC:28510 GLMN gene GLMN DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GLOMUVENOUS MALFORMATIONS 138000 11845407;11175297 False 3 50;50;0 6.447 False ENSG00000174842 ENSG00000174842 HGNC:14373 GLRA1 gene GLRA1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLRA1-related hyperexplexia, biallelic, OMIM:149400;GLRA1-related hyperexplexia, monoallelic, OMIM:149400 24030948;20631190;9920650;32319239;30109271;24970905;28985719;25036534;32332682 False 3 100;0;0 6.447 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLRB-related hyperexplexia, biallelic, OMIM:614619;GLRB-related hyperexplexia, monoallelic 24030948;32911248;23182654;23184146;21391991;23238346;11929858;33323420 False 3 100;0;0 6.447 False ENSG00000109738 ENSG00000109738 HGNC:4329 GLUD1 gene GLUD1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762 9571255;11214910;10636977 False 3 50;50;0 6.447 False Other ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL SYSTEMIC GLUTAMINE DEFICIENCY 610015 21353613;16267323 False 3 50;50;0 6.447 False ENSG00000135821 ENSG00000135821 HGNC:4341 GM2A gene GM2A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GM2-GANGLIOSIDOSIS TYPE AB 272750 10364519;8900233;1915858;8244332 False 3 50;50;0 6.447 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMNN gene GMNN DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome 26637980 False 3 50;50;0 6.447 False Other ENSG00000112312 ENSG00000112312 HGNC:17493 GMPPA gene GMPPA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCOSYLATION DISORDER CHARACTERIZED BY INTELLECTUAL DISABILITY AND AUTONOMIC DYSFUNCTION 24035193;35665995 False 3 50;50;0 6.447 False ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 615350 23768512 False 3 50;50;0 6.447 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNA11 gene GNA11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Hemangioma 27058448 False 3 50;50;0 6.447 False Other ENSG00000088256 ENSG00000088256 HGNC:4379 GNA14 gene GNA14 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital vascular tumours 27476652 False 3 50;50;0 6.447 False Other ENSG00000156049 ENSG00000156049 HGNC:4382 GNAI1 gene GNAI1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854 33473207;28135719 False 3 50;50;0 6.447 False ENSG00000127955 ENSG00000127955 HGNC:4384 GNAI3 gene GNAI3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AURICULOCONDYLAR SYNDROME 602483 11102934 False 3 50;50;0 6.447 False ENSG00000065135 ENSG00000065135 HGNC:4387 GNAO1 gene GNAO1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 23993195 False 3 50;50;0 6.447 False ENSG00000087258 ENSG00000087258 HGNC:4389 GNAQ gene GNAQ DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Hemangioma 27058448 False 3 50;50;0 6.447 False Other ENSG00000156052 ENSG00000156052 HGNC:4390 GNAS gene GNAS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALBRIGHT HEREDITARY OSTEODYSTROPHY, OMIM:103580;MCCUNE-ALBRIGHT SYNDROME, OMIM:174800;PSEUDOHYPOPARATHYROIDISM TYPE 1B, OMIM:603233 1944469;10487696;1505964;11095461;17299070;2122458;15592469;9328353;8702665;11029463;11073544;15126527;8072545;18182455;1594625 False 3 50;50;0 6.447 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNB1 gene GNB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mental retardation, autosomal dominant 42 OMIM:616973;intellectual disability, autosomal dominant 42 MONDO:0014855 30194818;27108799 False 3 50;50;0 6.447 False Other ENSG00000078369 ENSG00000078369 HGNC:4396 GNB2 gene GNB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GNB2-related developmental disorder (monoallelic) 28219978;33057194;34183358;31698099 False 3 100;0;0 6.447 False ENSG00000172354 ENSG00000172354 HGNC:4398 GNB5 gene GNB5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Sinus Bradycardia and Cognitive Disability 27523599 False 3 50;50;0 6.447 False ENSG00000069966 ENSG00000069966 HGNC:4401 GNPAT gene GNPAT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765 9536089;9843043;1405476;21990100 False 3 50;50;0 6.447 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOLIPIDOSIS TYPE II 252500;MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP A 252600 19197337;16116615;16465621;16200072;16094673;15633164;34341521 False 3 50;50;0 6.447 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOLIPIDOSIS TYPE III COMPLEMENTATION GROUP C 252605 10712439;20034096;19659762;19370764;34341521 False 3 50;50;0 6.447 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 3D 252940 19650410;12624138;17998446;6450420;3100754 False 3 50;50;0 6.447 False ENSG00000135677 ENSG00000135677 HGNC:4422 GOLGA2 gene GOLGA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GOLGA2-related myopathy, seizures and microcephaly 26742501;34424553 False 3 100;0;0 6.447 False ENSG00000167110 ENSG00000167110 HGNC:4425 GORAB gene GORAB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum 18997784 False 3 50;50;0 6.447 False ENSG00000120370 ENSG00000120370 HGNC:25676 GOT2 gene GOT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Malate-Aspartate Shuttle-Related Encephalopathy 31422819 False 3 50;50;0 6.447 False ENSG00000125166 ENSG00000125166 HGNC:4433 GPAA1 gene GPAA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia 29100095 False 3 50;50;0 6.447 False ENSG00000197858 ENSG00000197858 HGNC:4446 GPC3 gene GPC3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 312870 8589713;18203194;9950367;17850639;16158429;10814714 False 3 50;50;0 6.447 False ENSG00000147257 ENSG00000147257 HGNC:4451 GPC4 gene GPC4 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females KEIPERT SYNDROME 301026 30982611 False 3 50;50;0 6.447 False ENSG00000076716 ENSG00000076716 HGNC:4452 GPC6 gene GPC6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OMODYSPLASIA TYPE 1 (OMOD1) [ 258315 19481194 False 3 50;50;0 6.447 False ENSG00000183098 ENSG00000183098 HGNC:4454 GPSM2 gene GPSM2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHUDLEY-MCCULLOUGH SYNDROME 22578326 False 3 50;50;0 6.447 False ENSG00000121957 ENSG00000121957 HGNC:29501 GPX4 gene GPX4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE 250220 24706940 False 3 50;50;0 6.447 False ENSG00000167468 ENSG00000167468 HGNC:4556 GREB1L gene GREB1L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal hypodysplasia/aplasia 3, OMIM:617805 29261186;32378186;32598191;29220675;29100090;31424080;29100091 False 3 100;0;0 6.447 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRHL2 gene GRHL2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME 616029 False 3 50;50;0 6.447 False ENSG00000083307 ENSG00000083307 HGNC:2799 GRHL3 gene GRHL3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VAN DER WOUDE SYNDROME 119300 24360809 False 3 50;50;0 6.447 False ENSG00000158055 ENSG00000158055 HGNC:25839 GRIA1 gene GRIA1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GRIA1-related neurodevelopmental disorder 23033978;35675825 False 3 100;0;0 6.447 False ENSG00000155511 ENSG00000155511 HGNC:4571 GRIA2 gene GRIA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GRIA2-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000120251 ENSG00000120251 HGNC:4572 GRIA3 gene GRIA3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 94 300699 17989220 False 3 50;50;0 6.447 False ENSG00000125675 ENSG00000125675 HGNC:4573 GRID2 gene GRID2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal GRID2-related cerebellar ataxia, biallelic;GRID2-related cerebellar ataxia, monoallelic 31183084;25841024;24078737;23611888;28856174 False 3 100;0;0 6.447 False ENSG00000152208 ENSG00000152208 HGNC:4576 GRIK2 gene GRIK2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 6 611092 17847003;34375587 False 3 50;50;0 6.447 False ENSG00000164418 ENSG00000164418 HGNC:4580 GRIN1 gene GRIN1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254;intellectual disability, autosomal dominant 8 MONDO:0013655 27164704;35393335;34611970;23934111;26350515;28051072 False 3 50;50;0 6.447 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LANDAU-KLEFFNER SYNDROME 245570;EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS 613971 23033978;35983985;20890276;23933818 False 3 50;50;0 6.447 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY;AUTISM 209850;MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 613970 24272827;31085877;23934111;28377535;23033978;20890276;23160955;27605359;23718928;35393335;30151416 False 3 50;50;0 6.447 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers 27616483 False 3 50;50;0 6.447 False Other ENSG00000105464 ENSG00000105464 HGNC:4588 GRM1 gene GRM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL CEREBELLAR ATAXIA 614831 22901947 False 3 50;50;0 6.447 False ENSG00000152822 ENSG00000152822 HGNC:4593 GRM6 gene GRM6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B 257270 16249515;15781871;17405131 False 3 50;50;0 6.447 False ENSG00000113262 ENSG00000113262 HGNC:4598 GRM7 gene GRM7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GRM7-related neurodevelopmental disorder 32286009;28097321;27435318 False 3 100;0;0 6.447 False ENSG00000196277 ENSG00000196277 HGNC:4599 GSC gene GSC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0011227;OMIM:602471.0;GSC-related short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) 24290375 False 3 100;0;0 6.447 False ENSG00000133937 ENSG00000133937 HGNC:4612 GTF2E2 gene GTF2E2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DNA Repair-Proficient Trichothiodystrophy 26996949 False 3 50;50;0 6.447 False ENSG00000197265 ENSG00000197265 HGNC:4651 GTF2H5 gene GTF2H5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 False 3 50;50;0 6.447 False ENSG00000272047 ENSG00000272047 HGNC:21157 GTF3C3 gene GTF3C3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GTF3C3-related neurodevelopmental disorder with hypoplasia of corpus callosum and/or cerebellar atrophy;MONDO:0100038 39636576 False 3 100;0;0 6.447 False ENSG00000119041 ENSG00000119041 HGNC:4666 GTF3C5 gene GTF3C5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GTF3C5-related neurodevelopmental disorder with growth restriction, skeletal anomalies, cerebellar hypoplasia and hearing loss;MONDO:0100038 38520561 False 3 100;0;0 6.447 False ENSG00000148308 ENSG00000148308 HGNC:4668 GTPBP1 gene GTPBP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GTPBP1-related neurodevelopmental disorder with severe-profound intellectual disability, spasticity and ectodermal features. 38118446 False 3 100;0;0 6.447 False ENSG00000100226 ENSG00000100226 HGNC:4669 GTPBP2 gene GTPBP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JABERI-ELAHI SYNDROME, OMIM:617988 26675814;30790272;29449720 False 3 100;0;0 6.447 False ENSG00000172432 ENSG00000172432 HGNC:4670 GTPBP3 gene GTPBP3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL TRANSLATION DEFECT ASSOCIATED WITH HYPERTROPHIC CARDIOMYOPATHY, LACTIC ACIDOSIS, AND ENCEPHALOPATHY 25434004 False 3 50;50;0 6.447 False ENSG00000130299 ENSG00000130299 HGNC:14880 GUCY2C gene GUCY2C DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal MECONIUM ILEUS;FAMILIAL DIARRHEA DIARRHEA 6 614616 22436048 False 3 50;50;0 6.447 False ENSG00000070019 ENSG00000070019 HGNC:4688 GUSB gene GUSB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 7 253220 7633414;6811712;12522561;9490302;1702266;7573038;1833732;4265197 False 3 50;50;0 6.447 False ENSG00000169919 ENSG00000169919 HGNC:4696 GZF1 gene GZF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LARSEN SYNDROME 28475863 False 3 50;50;0 6.447 False ENSG00000125812 ENSG00000125812 HGNC:15808 H3F3A gene H3F3A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown H3-3A-related Bryant-Li-Bhoj neurodevelopmental syndrome, OMIM:619720 31942419;33057194;33268356 False 3 50;50;0 6.447 False ENSG00000163041 ENSG00000163041 HGNC:4764 H3F3B gene H3F3B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown H3F3B associated neurodevelopmental disorder 33268356 False 3 100;0;0 6.447 False ENSG00000132475 ENSG00000132475 HGNC:4765 HAAO gene HAAO DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NAD deficiency disorder 33942433;28792876 False 3 100;0;0 6.447 False ENSG00000162882 ENSG00000162882 HGNC:4796 HACD1 gene HACD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HACD1-related congenital myopathy 32426512;33354762;23933735 False 3 100;0;0 6.447 False ENSG00000165996 ENSG00000165996 HGNC:9639 HACE1 gene HACE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HACE1 related disorder 26437029;26424145 False 3 50;50;0 6.447 False ENSG00000085382 ENSG00000085382 HGNC:21033 HADH gene HADH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-HYDROXYACYL-COENZYME A DEHYDROGENASE DEFICIENCY 231530 False 3 50;50;0 6.447 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY 609016 7811722 False 3 50;50;0 6.447 False ENSG00000084754 ENSG00000084754 HGNC:4801 HAX1 gene HAX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE 610738 18611981;18337561;19036076;17187068 False 3 50;50;0 6.447 False ENSG00000143575 ENSG00000143575 HGNC:16915 HCCS gene HCCS DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA SYNDROMIC TYPE 7 309801 17033964 False 3 50;50;0 6.447 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION, X-LINKED 3 309541;COBALAMIN DISORDER 1870093;23000143;24011988 False 3 50;50;0 6.447 False ENSG00000172534 ENSG00000172534 HGNC:4839 HCN1 gene HCN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 615871 24747641 False 3 50;50;0 6.447 False ENSG00000164588 ENSG00000164588 HGNC:4845 HDAC3 gene HDAC3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HDAC3-related neurodevelopmental disorder 39047730 False 3 100;0;0 6.447 False ENSG00000171720 ENSG00000171720 HGNC:4854 HDAC4 gene HDAC4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRACHYDACTYLY-MENTAL RETARDATION SYNDROME 600430 33537682;20691407;30848064 False 3 50;50;0 6.447 False ENSG00000068024 ENSG00000068024 HGNC:14063 HDAC8 gene HDAC8 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CORNELIA DE LANGE-LIKE SYNDROME HDAC8 XLR;Cornelia de Lange Syndrome HDAC8 X-linked dominant 29279609;25102094;29991052;22885700;29519750;26671848;24403048 False 3 50;50;0 6.447 False ENSG00000147099 ENSG00000147099 HGNC:13315 HECTD4 gene HECTD4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HECTD4-related neurodevelopmental disorder with seizures, hypotonia, spasticity, and agenesis of the corpus callosum 36401616 False 3 100;0;0 6.447 False ENSG00000173064 ENSG00000173064 HGNC:26611 HECW2 gene HECW2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with hypotonia, seizures, and absent language 35753050;34321324;27334371;27389779 False 3 50;50;0 6.447 False ENSG00000138411 ENSG00000138411 HGNC:29853 HERC1 gene HERC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION, OMIM:617011 28323226;27108999;26153217;26138117 False 3 100;0;0 6.447 False ENSG00000103657 ENSG00000103657 HGNC:4867 HERC2 gene HERC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HERC2-related neurodevelopmental disorder, OMIM:615516 32571899;23243086;30902390;23065719 False 3 100;0;0 6.447 False ENSG00000128731 ENSG00000128731 HGNC:4868 HESX1 gene HESX1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SEPTOOPTIC DYSPLASIA 256657;HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 319358 False 3 50;50;0 6.447 False ENSG00000163666 ENSG00000163666 HGNC:4877 HEXA gene HEXA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GM2-GANGLIOSIDOSIS TYPE 1 272800 2140574;14648242;9401004;2848800;6959123;1483696;21937992;2934978;1532289;9272736;1301190;8757036;2522679;1322637;2976595;1384323;15108204;1301958;1827945;2961848;1833974;1837283;3362213;9603435;8490625;2954459;1825014;1302612;3754980 False 3 50;50;0 6.447 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GM2-GANGLIOSIDOSIS TYPE 2 268800 9888387;8045559;3014997;571983;2973515;18758829;1531140;2921040;7633435;10724 False 3 50;50;0 6.447 False ENSG00000049860 ENSG00000049860 HGNC:4879 HGSNAT gene HGSNAT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 3C 252930 18518886;16960811;20825431;17033958;18024218 False 3 50;50;0 6.447 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HIBCH DEFICIENCY 250620 7122152 False 3 50;50;0 6.447 False ENSG00000198130 ENSG00000198130 HGNC:4908 HINT1 gene HINT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200 22961002 False 3 50;50;0 6.447 False ENSG00000169567 ENSG00000169567 HGNC:4912 HIST1H1E gene HIST1H1E DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Childhood overgrowth 28475857;31400068 False 3 50;50;0 6.447 False ENSG00000168298 ENSG00000168298 HGNC:4718 HIST1H4C gene HIST1H4C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HIST1H4C 100000;28920961 False 3 50;50;0 6.447 False ENSG00000197061 ENSG00000197061 HGNC:4787 HIST1H4J gene HIST1H4J DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability with facial dysmorphism False 3 50;50;0 6.447 False ENSG00000197238 ENSG00000197238 HGNC:4785 HIVEP2 gene HIVEP2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HIVEP2 associated syndromic developmental delay with intellectual disability 27003583;26153216 False 3 50;50;0 6.447 False ENSG00000010818 ENSG00000010818 HGNC:4921 HK1 gene HK1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HK1-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False Other ENSG00000156515 ENSG00000156515 HGNC:4922 HLCS gene HLCS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HOLOCARBOXYLASE SYNTHETASE DEFICIENCY 609018 False 3 50;50;0 6.447 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMGA2 gene HMGA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MONDO:0020795;HMGA2-related Silver-Russell-like syndrome 21803798;38516887;38840187;32421827;29655892;25809938 False 3 100;0;0 6.447 False ENSG00000149948 ENSG00000149948 HGNC:5009 HMGB1 gene HMGB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome;HMGB1-related intellectual disability 36755093;34164801 False 3 100;0;0 6.447 False ENSG00000189403 ENSG00000189403 HGNC:4983 HMGCL gene HMGCL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450 11129331;9463337;8617516 False 3 50;50;0 6.447 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCR gene HMGCR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HMGCR-related limb-girdle muscular dystrophy 37167966;36745799 False 3 100;0;0 6.447 False ENSG00000113161 ENSG00000113161 HGNC:5006 HMGCS2 gene HMGCS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911 9337379;12647205;11228257;9727719;11479731 False 3 50;50;0 6.447 False ENSG00000134240 ENSG00000134240 HGNC:5008 HMX1 gene HMX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OCULOAURICULAR SYNDROME 612109 18423520;25574057;29140751 False 3 50;50;0 6.447 False ENSG00000215612 ENSG00000215612 HGNC:5017 HNF1B gene HNF1B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RENAL CYSTS AND DIABETES SYNDROME 137920 11085914;9398836;12675839;17440011;15181075;10484768;10720943;15068978;11562418;11317673 False 3 50;50;0 6.447 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850;ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353 8945471;24285859 False 3 50;50;0 6.447 False ENSG00000101076 ENSG00000101076 HGNC:5024 HNRNPA2B1 gene HNRNPA2B1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early-onset oculopharyngeal muscular dystrophy 35484142 False 3 100;0;0 6.447 False ENSG00000122566 ENSG00000122566 HGNC:5033 HNRNPD gene HNRNPD DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNRNPD-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000138668 ENSG00000138668 HGNC:5036 HNRNPH1 gene HNRNPH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNRNPH1-related neurodevelopmental disorder 29938792;32335897 False 3 100;0;0 6.447 False ENSG00000169045 ENSG00000169045 HGNC:5041 HNRNPH2 gene HNRNPH2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodevelopmental Disorder in Females 27545675 False 3 50;50;0 6.447 False ENSG00000126945 ENSG00000126945 HGNC:5042 HNRNPK gene HNRNPK DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Au-Kline Syndrome 30998304;29904177 False 3 50;50;0 6.447 False ENSG00000165119 ENSG00000165119 HGNC:5044 HNRNPR gene HNRNPR DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities, OMIM:620073 31079900 False 3 50;50;0 6.447 False ENSG00000125944 ENSG00000125944 HGNC:5047 HNRNPU gene HNRNPU DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 23934111;35138025 False 3 50;50;0 6.447 False ENSG00000153187 ENSG00000153187 HGNC:5048 HOXA1 gene HOXA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BOSLEY-SALIH-ALORAINY SYNDROME 601536;ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536 18412118;16155570 False 3 50;50;0 6.447 False ENSG00000105991 ENSG00000105991 HGNC:5099 HOXA13 gene HOXA13 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HAND-FOOT-GENITAL SYNDROME 140000 10839976 False 3 50;50;0 6.447 False ENSG00000106031 ENSG00000106031 HGNC:5102 HOXB1 gene HOXB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744 22770981 False 3 50;50;0 6.447 False ENSG00000120094 ENSG00000120094 HGNC:5111 HOXC13 gene HOXC13 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PURE HAIR AND NAIL ECTODERMAL DYSPLASIA 614931 23315978;23063621 False 3 50;50;0 6.447 False ENSG00000123364 ENSG00000123364 HGNC:5125 HOXD13 gene HOXD13 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRACHYDACTYLY-SYNDACTYLY SYNDROME 610713;VACTERL ASSOCIATION 192350;BRACHYDACTYLY TYPE E 113300;SYNPOLYDACTYLY 1 186000;SYNDACTYLY TYPE 5 186300;BRACHYDACTYLY TYPE D 113200 12900906;12414828;17236141;9758628;12649808;8817328;19060004 False 3 50;50;0 6.447 False ENSG00000128714 ENSG00000128714 HGNC:5136 HPD gene HPD DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal TYROSINEMIA TYPE 3 276710;HAWKINSINURIA 140350 10942115 False 3 50;50;0 6.447 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPDL gene HPDL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HPDL Neurodegenerative Disease;Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026 Spastic paraplegia 83, autosomal recessive OMIM:619027 32707086 False 3 100;0;0 6.447 False ENSG00000186603 ENSG00000186603 HGNC:28242 HPGD gene HPGD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOOSTEOARTHROPATHY 259100 False 3 50;50;0 6.447 False ENSG00000164120 ENSG00000164120 HGNC:5154 HPRT1 gene HPRT1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females LESCH-NYHAN SYNDROME 300322;GOUT HPRT-RELATED 300323 23975452 False 3 50;50;0 6.447 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HERMANSKY-PUDLAK SYNDROME 203300 9705234;9497254;10971344;8274781;8896559 False 3 50;50;0 6.447 False ENSG00000107521 ENSG00000107521 HGNC:5163 HPSE2 gene HPSE2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UROFACIAL SYNDROME 236730 19839856;19669792;11446407;20560210 False 3 50;50;0 6.447 False ENSG00000172987 ENSG00000172987 HGNC:18374 HR gene HR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALOPECIA UNIVERSALIS 146550;ATRICHIA WITH PAPULAR LESIONS 209500 19897589;17680008;9856480;9758627;9445480;10051399;10777357;10205263;10469319;12271294;9463324 False 3 50;50;0 6.447 False ENSG00000168453 ENSG00000168453 HGNC:5172 HRAS gene HRAS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040;COSTELLO SYNDROME 218040 17054105;16835863;18039947;18247425;17412879;17468812;16170316;19995790;16443854;17056636 False 3 50;50;0 6.447 False Other ENSG00000174775 ENSG00000174775 HGNC:5173 HS2ST1 gene HS2ST1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HS2ST1-related Developmental Disorder 33159882 False 3 100;0;0 6.447 False ENSG00000153936 ENSG00000153936 HGNC:5193 HSD17B10 gene HSD17B10 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 10 300220;2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY 300438 10521307;12555940;16148061;12696021 False 3 50;50;0 6.447 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515;PERRAULT SYNDROME 9345094;10400999;11992265;11743515;9482850;4061497;2921319 False 3 50;50;0 6.447 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 607765 False 3 50;50;0 6.447 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSF4 gene HSF4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT ZONULAR HSF4-RELATED 116800;CATARACT MARNER TYPE 116800 16876512;12089525;29243736;24637349 False 3 50;50;0 6.447 False ENSG00000102878 ENSG00000102878 HGNC:5227 HSPD1 gene HSPD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEUKODYSTROPHY HYPOMYELINATING TYPE 4, OMIM:612233 False 3 50;50;0 6.447 False ENSG00000144381 ENSG00000144381 HGNC:5261 HSPG2 gene HSPG2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SCHWARTZ-JAMPEL SYNDROME 255800;DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE 224410 11101850;11941538;11279527 False 3 50;50;0 6.447 False ENSG00000142798 ENSG00000142798 HGNC:5273 HUWE1 gene HUWE1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE 300706 7943042;29180823;18252223;23721686 False 3 50;50;0 6.447 False ENSG00000086758 ENSG00000086758 HGNC:30892 HYAL1 gene HYAL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 9 601492 8793927 False 3 50;50;0 6.447 False ENSG00000114378 ENSG00000114378 HGNC:5320 HYAL2 gene HYAL2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYAL2-related syndrome with cleft lip and palate and congenital cardiac anomalies 28081210;34906488 False 3 100;0;0 6.447 False ENSG00000068001 ENSG00000068001 HGNC:5321 HYDIN gene HYDIN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CILIARY DYSKINESIA, PRIMARY, 5 608647 23022101;14985390 False 3 33;33;33 6.447 False ENSG00000157423 ENSG00000157423 HGNC:19368 HYLS1 gene HYLS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYDROLETHALUS SYNDROME TYPE 1 236680 15843405 False 3 50;50;0 6.447 False ENSG00000198331 ENSG00000198331 HGNC:26558 IARS gene IARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy 27426735 False 3 50;50;0 6.447 False ENSG00000196305 ENSG00000196305 HGNC:5330 IDS gene IDS DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MUCOPOLYSACCHARIDOSIS TYPE 2 309900 1550586;1303211;1284597;8364592;7581397;1355630;8940265;12794697;1639384 False 3 50;50;0 6.447 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 1H/S 607015;MUCOPOLYSACCHARIDOSIS TYPE 1S 607016;MUCOPOLYSACCHARIDOSIS TYPE 1H 607014 8328452;7951228;10466419;10735634;4221470;6821579;7550232;9391892;8664897 False 3 50;50;0 6.447 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes 36416459;22991235;24138066;21835305;28711742 False 3 100;0;0 6.447 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AICARDI-GOUTIERES SYNDROME 7, OMIM:615846;SINGLETON-MERTEN SYNDROME, OMIM:182250 24995871;25620204 False 3 100;0;0 6.447 False ENSG00000115267 ENSG00000115267 HGNC:18873 IFITM5 gene IFITM5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OSTEOGENESIS IMPERFECTA TYPE V 610967 22863190;22863195 False 3 50;50;0 6.447 False ENSG00000206013 ENSG00000206013 HGNC:16644 IFT122 gene IFT122 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOECTODERMAL DYSPLASIA 218330 17022080;19760620;20493458 False 3 50;50;0 6.447 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MAINZER-SALDINO SYNDROME 266920 22503633 False 3 50;50;0 6.447 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JEUNE SYNDROME;MAINZER-SALDINO SYNDROME 266920 24140113 False 3 50;50;0 6.447 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT43 gene IFT43 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 21378380 False 3 50;50;0 6.447 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT74 gene IFT74 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IFT74-associated ciliopathy, OMIM:617119 27486776;33748949;32144365;33531668 False 3 100;0;0 6.447 False ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ASPHYXIATING THORACIC DYSTROPHY 2 611263 17468754 False 3 50;50;0 6.447 False ENSG00000068885 ENSG00000068885 HGNC:29262 IGF1 gene IGF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor I deficiency, OMIM:608747 15769976;14684690;8857020 False 3 50;50;0 6.447 False ENSG00000017427 ENSG00000017427 HGNC:5464 IGF1R gene IGF1R DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO 270450 15928254;14657428;22130793;17264177 False 3 50;50;0 6.447 False ENSG00000140443 ENSG00000140443 HGNC:5465 IGF2 gene IGF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) BECKWITH-WIEDEMANN SYNDROME 130650;CHROMOSOME 11P15.5-RELATED RUSSELL-SILVER SYNDROME 180860 26154720 False 3 50;50;0 6.447 False ENSG00000167244 ENSG00000167244 HGNC:5466 IGFBP7 gene IGFBP7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS 614224 12441727 False 3 50;50;0 6.447 False ENSG00000163453 ENSG00000163453 HGNC:5476 IGHMBP2 gene IGHMBP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 604320 15290238;11528396 False 3 50;50;0 6.447 False ENSG00000132740 ENSG00000132740 HGNC:5542 IGSF1 gene IGSF1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT 300888 23143598 False 3 50;50;0 6.447 False ENSG00000147255 ENSG00000147255 HGNC:5948 IHH gene IHH DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal ACROCAPITOFEMORAL DYSPLASIA 607778;BRACHYDACTYLY, TYPE A1 112500 12384778;12525541;16871364;19277064;18629882;12632327;11455389 False 3 50;50;0 6.447 False ENSG00000163501 ENSG00000163501 HGNC:5956 IKBKG gene IKBKG DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) SUSCEPTIBILITY TO X-LINKED FAMILIAL ATYPICAL MICOBACTERIOSIS TYPE 1 300636;IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA 300584;ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY-OSTEOPETROSIS-LYMPHEDEMA 300301;ECTODERMAL DYSPLASIA ANHIDROTIC WITH IMMUNODEFICIENCY X-LINKED 300291;INCONTINENTIA PIGMENTI 308300 10839543;11242109;16228229;9450877;11224521;15356572;12045264;14726382;15577852;117248;16818673;11047757 False 3 50;50;0 6.447 False ENSG00000073009 ENSG00000269335 HGNC:5961 IL11RA gene IL11RA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Craniosynostosis 24498618 False 3 100;0;0 6.447 False ENSG00000137070 ENSG00000137070 HGNC:5967 IL1RAPL1 gene IL1RAPL1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 21 300143 10471494;18801879;16470793;19012350 False 3 50;50;0 6.447 False ENSG00000169306 ENSG00000169306 HGNC:5996 IMPAD1 gene IMPAD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GRAPP TYPE 614078 21549340 False 3 50;50;0 6.447 False ENSG00000104331 ENSG00000104331 HGNC:26019 INPP4A gene INPP4A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 3 50;50;0 6.447 False ENSG00000040933 ENSG00000040933 HGNC:6074 INPP5E gene INPP5E DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME TYPE 1 213300;MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156 19668215;19668216 False 3 50;50;0 6.447 False ENSG00000148384 ENSG00000148384 HGNC:21474 INPP5K gene INPP5K DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, with cataracts and intellectual disability 28190459;28190456;28940338 False 3 50;50;0 6.447 False ENSG00000132376 ENSG00000132376 HGNC:33882 INPPL1 gene INPPL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OPSISMODYSPLASIA 258480 23273569 False 3 50;50;0 6.447 False ENSG00000165458 ENSG00000165458 HGNC:6080 INTS1 gene INTS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTS1-related neurodevelopmental disorder with cataracts, hypotonia and gait abnormality 28542170;30622326;31428919 False 3 100;0;0 6.447 False ENSG00000164880 ENSG00000164880 HGNC:24555 INTS11 gene INTS11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTS11-related neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428 37054711;37980560 False 3 100;0;0 6.447 False ENSG00000127054 ENSG00000127054 HGNC:26052 IPO8 gene IPO8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IPO8-related syndromic thoracic aortic aneurysm 34010604;34010605 False 3 100;0;0 6.447 False ENSG00000133704 ENSG00000133704 HGNC:9853 IQSEC1 gene IQSEC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability, Developmental Delay, and Short Stature 31607425 False 3 100;0;0 6.447 False ENSG00000144711 ENSG00000144711 HGNC:29112 IQSEC2 gene IQSEC2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MENTAL RETARDATION X-LINKED TYPE 1 309530 29026562;24306141;26733290;26793055;27665735;30206421;23674175;31415821;3177466;31490346;7943039;31829726;28295038;20473311;28815955;30666632 False 3 50;50;0 6.447 False ENSG00000124313 ENSG00000124313 HGNC:29059 IREB2 gene IREB2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IREB2-related neurodevelopmental disorder 35602653;31243445;30915432 False 3 100;0;0 6.447 False ENSG00000136381 ENSG00000136381 HGNC:6115 IRF2BPL gene IRF2BPL DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurological Phenotypes 30193138 False 3 50;50;0 6.447 False ENSG00000119669 ENSG00000119669 HGNC:14282 IRF6 gene IRF6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VAN DER WOUDE SYNDROME 119300;POPLITEAL PTERYGIUM SYNDROME 119500 12920575;19842205;12219090;20803643;18478600;14618417;14757865 False 3 50;50;0 6.447 False ENSG00000117595 ENSG00000117595 HGNC:6121 IRX5 gene IRX5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY 611174 False 3 50;50;0 6.447 False ENSG00000176842 ENSG00000176842 HGNC:14361 ISPD gene ISPD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WALKER WARBURG SYNDROME 614643 22522420;7604843;22522421;9492098;23217329 False 3 50;50;0 6.447 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITCH gene ITCH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM 613385 20170897 False 3 50;50;0 6.447 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA3 gene ITGA3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL 614748 22512483 False 3 50;50;0 6.447 False ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA7 gene ITGA7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL MUSCULAR DYSTROPHY 607855 9590299 False 3 50;50;0 6.447 False ENSG00000135424 ENSG00000135424 HGNC:6143 ITGA8 gene ITGA8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RENAL HYPODYSPLASIA/APLASIA 1 191830 False 3 50;50;0 6.447 False ENSG00000077943 ENSG00000077943 HGNC:6144 ITPR1 gene ITPR1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gillespie Syndrome, OMIM:206700;Gillespie Syndrome, monoallelic, OMIM:206700;SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OMIM:117360 27062503;22986007;27108797;27108798 False 3 100;0;0 6.447 False ENSG00000150995 ENSG00000150995 HGNC:6180 IVD gene IVD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ISOVALERIC ACIDEMIA 243500 15486829;1310317;10677295;2063866 False 3 50;50;0 6.447 False ENSG00000128928 ENSG00000128928 HGNC:6186 JAG1 gene JAG1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALAGILLE SYNDROME 279357 35761784 False 3 50;50;0 6.447 False ENSG00000101384 ENSG00000101384 HGNC:6188 JAG2 gene JAG2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JAG2-related muscular dystrophy 33861953 False 3 100;0;0 6.447 False ENSG00000184916 ENSG00000184916 HGNC:6189 JAGN1 gene JAGN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEVERE CONGENITAL NEUTROPENIA 25129144 False 3 50;50;0 6.447 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEVERE COMBINED IMMUNE DEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL -POSITIVE, NK CELL-NEGATIVE, JAK3-RELATED 600802 7659163;10982185;7481768;11741532 False 3 50;50;0 6.447 False ENSG00000105639 ENSG00000105639 HGNC:6193 JAM3 gene JAM3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS 613730 23255084;21109224 False 3 50;50;0 6.447 False ENSG00000166086 ENSG00000166086 HGNC:15532 JARID2 gene JARID2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown JARID2-related Neurodevelopmental Disorder 33077894;35533077 False 3 100;0;0 6.447 False ENSG00000008083 ENSG00000008083 HGNC:6196 JPH1 gene JPH1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JPH1-related congenital myopathy with ptosis, OMIM:620964 39209426 False 3 100;0;0 6.447 False ENSG00000104369 ENSG00000104369 HGNC:14201 KANSL1 gene KANSL1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHROMOSOME 17Q21.31 MICRODELETION SYNDROME 610443 22544363;22544367 False 3 50;50;0 6.447 False ENSG00000120071 ENSG00000120071 HGNC:24565 KARS gene KARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DEAFNESS, AUTOSOMAL RECESSIVE 89, OMIM:613916;KARS1-related leukoencephalopathy with or without deafness, OMIM:619147 20920668;23768514 False 3 50;50;0 6.447 False ENSG00000065427 ENSG00000065427 HGNC:6215 KAT5 gene KAT5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KAT5-related Neurodevelopmental Syndrome 32822602 False 3 100;0;0 6.447 False ENSG00000172977 ENSG00000172977 HGNC:5275 KAT6A gene KAT6A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 616268 29899504;25728777;30775047;27133397;30245513;25728775;35892268;32041641;31754438 False 3 50;50;0 6.447 False ENSG00000083168 ENSG00000083168 HGNC:13013 KAT6B gene KAT6B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BLEPHAROPHIMOSIS/INTELLECTUAL DISABILITY PHENOTYPE WHICH IS NOONAN-LIKE;GENITOPATELLAR SYNDROME 606170 31871732;12949978;27696664;22077973;28696035;24458743;30353918;26370006;26334766;25424711;12210330;29226580;28758091;16761293;28232779;30569622;22265017;30900427;28426343;23436491;12210329;22265014 False 3 50;50;0 6.447 False ENSG00000156650 ENSG00000156650 HGNC:17582 KATNB1 gene KATNB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KATNB1- associated COMPLEX CEREBRAL MALFORMATIONS 25521378;25521379 False 3 100;0;0 6.447 False ENSG00000140854 ENSG00000140854 HGNC:6217 KBTBD13 gene KBTBD13 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEMALINE MYOPATHY 6 609273 21109227;21104864;12805120 False 3 50;50;0 6.447 False ENSG00000234438 ENSG00000234438 HGNC:37227 KCNA2 gene KCNA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY Loss-of-function;EPILEPTIC ENCEPHALOPATHY Gain-of-function 25751627 False 3 50;50;0 6.447 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNB1 gene KCNB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 616056 25164438 False 3 50;50;0 6.447 False ENSG00000158445 ENSG00000158445 HGNC:6231 KCNB2 gene KCNB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNB2-related neurodevelopmental disorder 38503299 False 3 100;0;0 6.447 False ENSG00000182674 ENSG00000182674 HGNC:6232 KCNC1 gene KCNC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY, PROGRESSIVE MYOCLONIC 7 616187 25401298 False 3 50;50;0 6.447 False Other ENSG00000129159 ENSG00000129159 HGNC:6233 KCNC3 gene KCNC3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPINOCEREBELLAR ATAXIA TYPE 13 605259 False 3 50;50;0 6.447 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND2 gene KCND2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCND2-related neurodevelopmental disorder with or without seizures 34245260;24501278 False 3 100;0;0 6.447 False ENSG00000184408 ENSG00000184408 HGNC:6238 KCND3 gene KCND3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCND3-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False Other ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE1 gene KCNE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695 30461122 False 3 50;50;0 6.447 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH1 gene KCNH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TEMPLE BARRAISTER SYNDROME 611816 25420144 False 3 50;50;0 6.447 False Other ENSG00000143473 ENSG00000143473 HGNC:6250 KCNH5 gene KCNH5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 112, OMIM:620537 36307226;23647072 False 3 50;50;0 6.447 False ENSG00000140015 ENSG00000140015 HGNC:6254 KCNJ10 gene KCNJ10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEIZURES-SENSORINEURAL DEAFNESS-ATAXIA-MENTAL RETARDATION-ELECTROLYTE IMBALANCE 612780 19420365;19289823;20651251;21849804 False 3 50;50;0 6.447 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090;FAMILIAL HYPERINSULINISM 3272 8923010;9356020 False 3 50;50;0 6.447 False ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ6 gene KCNJ6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KEPPEN-LUBINSKY SYNDROME 614098 25620207;36071510 False 3 50;50;0 6.447 False ENSG00000157542 ENSG00000157542 HGNC:6267 KCNJ8 gene KCNJ8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cantu syndrome 24700710;24176758;25275207 False 3 50;50;0 6.447 False Other ENSG00000121361 ENSG00000121361 HGNC:6269 KCNK3 gene KCNK3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNK3-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000171303 ENSG00000171303 HGNC:6278 KCNMA1 gene KCNMA1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA 609446 34224328;31152168;15937479;27567911;33178487;29545233;32132200;29330545 False 3 50;50;0 6.447 False ENSG00000156113 ENSG00000156113 HGNC:6284 KCNN2 gene KCNN2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNN2-related neurodevelopmental disorder with or without movement disorder 33242881 False 3 100;0;0 6.447 False ENSG00000080709 ENSG00000080709 HGNC:6291 KCNN3 gene KCNN3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZIMMERMANN-LABAND SYNDROME 31155282 False 3 50;50;0 6.447 False Other ENSG00000143603 ENSG00000143603 HGNC:6292 KCNQ1 gene KCNQ1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 220400 False 3 50;50;0 6.447 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ2 gene KCNQ2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 7 613720;BENIGN NEONATAL EPILEPSY TYPE 1 121200 25880994;28832002;27602407;15249611;28687180;22926866;25566516;17872363;27861786;28728838;25092550;9430594;23774309;30107960;11175290;24107868;11572947;31199083;28631195;10323247;23692823;23621294;31152295;29687029;31951342;9425895;16235065;24371303;22169383;31418850;30530441;22275249;12742592 False 3 50;50;0 6.447 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNQ3 syndrome False 3 50;50;0 6.447 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ5 gene KCNQ5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability with or without Epileptic Encephalopathy 28669405 False 3 50;50;0 6.447 False ENSG00000185760 ENSG00000185760 HGNC:6299 KCNT1 gene KCNT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959;MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY 23086397;23086396 False 3 50;50;0 6.447 False ENSG00000107147 ENSG00000107147 HGNC:18865 KCTD7 gene KCTD7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS;PROGRESSIVE MYOCLONIC EPILEPSY TYPE 3 611726 22693283;17455289;22748208 False 3 50;50;0 6.447 False ENSG00000243335 ENSG00000243335 HGNC:21957 KDELR2 gene KDELR2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KDELR2-related Osteogenesis Imperfecta 33053334 False 3 100;0;0 6.447 False ENSG00000136240 ENSG00000136240 HGNC:6305 KDM1A gene KDM1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay and distinctive facial features 29559475;26656649 False 3 50;50;0 6.447 False ENSG00000004487 ENSG00000004487 HGNC:29079 KDM2B gene KDM2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KDM2B-related neurodevelopmental disorder;Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, OMIM:621474 36322151 False 3 100;0;0 6.447 False ENSG00000089094 ENSG00000089094 HGNC:13610 KDM3B gene KDM3B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diets-Jongmans syndrome, OMIM:618846;Diets-Jongmans syndrome, MONDO:0030012 30929739 False 3 100;0;0 6.447 False ENSG00000120733 ENSG00000120733 HGNC:1337 KDM4B gene KDM4B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KDM4B-related Developmental Disorder 33232677 False 3 100;0;0 6.447 False ENSG00000127663 ENSG00000127663 HGNC:29136 KDM5B gene KDM5B DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal KDM5B-related neurodevelopmental disorder (biallelic);Intellectual developmental disorder, autosomal recessive 65, OMIM:618109;intellectual disability, autosomal recessive, MONDO:0020850;KDM5B-related neurodevelopmental disorder (monoallelic);neurodevelopmental disorder, MONDO:0700092 29276005;24307393;30409806;28135719;28720891 False 3 50;50;0 6.447 False ENSG00000117139 ENSG00000117139 HGNC:18039 KDM5C gene KDM5C DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED 300534 18203167;15586325;19826449;18697827;21575681;16538222;10982473 False 3 50;50;0 6.447 False ENSG00000126012 ENSG00000126012 HGNC:11114 KDM6A gene KDM6A DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) KABUKI SYNDROME 2 300867 23076834;22197486 False 3 50;50;0 6.447 False ENSG00000147050 ENSG00000147050 HGNC:12637 KDM6B gene KDM6B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL RECESSIVE MENTAL RETARDATION;KDM6B-related developmental disorder (monoallelic) 21937992 False 3 50;50;0 6.447 False ENSG00000132510 ENSG00000132510 HGNC:29012 KIAA0586 gene KIAA0586 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 614615 26437029;26026149 False 3 50;50;0 6.447 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA1109 gene KIAA1109 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Brain atrophy, Dandy Walker and Contractures 29290337;25558065 False 3 50;50;0 6.447 False ENSG00000138688 ENSG00000138688 HGNC:26953 KIDINS220 gene KIDINS220 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia, intellectual disability, nystagmus, and obesity. 32909676;28934391;27005418 False 3 50;50;0 6.447 False ENSG00000134313 ENSG00000134313 HGNC:29508 KIF11 gene KIF11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT MICROCEPHALY ASSOCIATED WITH LYMPHEDEMA AND/OR CHORIORETINOPATHY 152950 22284827;15930898 False 3 50;50;0 6.447 False ENSG00000138160 ENSG00000138160 HGNC:6388 KIF14 gene KIF14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe microcephaly and short stature 28892560;24128419 False 3 50;50;0 6.447 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIF1A gene KIF1A DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213;NESCAV SYNDROME, 614255 25253658;25265257;26125038;26486474;21820098;30385166;21376300;32096284;26354034 False 3 50;50;0 6.447 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1BP gene KIF1BP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME 609460 15883926 False 3 50;50;0 6.447 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF22 gene KIF22 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 603546 22152678;19277648 False 3 50;50;0 6.447 False Other ENSG00000079616 ENSG00000079616 HGNC:6391 KIF2A gene KIF2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. 23603762 False 3 50;50;0 6.447 False Other ENSG00000068796 ENSG00000068796 HGNC:6318 KIF5A gene KIF5A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KIF5A-associated severe neonatal myoclonus, OMIM:617235 27463701;27414745 False 3 100;0;0 6.447 False ENSG00000155980 ENSG00000155980 HGNC:6323 KIF5B gene KIF5B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KIF5B-related disease 36018820;35342932 False 3 100;0;0 6.447 False ENSG00000170759 ENSG00000170759 HGNC:6324 KIF5C gene KIF5C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2 615282 23603762 False 3 50;50;0 6.447 False ENSG00000168280 ENSG00000168280 HGNC:6325 KIF7 gene KIF7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACROCALLOSAL SYNDROME 200990;AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 3 50;50;0 6.447 False ENSG00000166813 ENSG00000166813 HGNC:30497 KIT gene KIT DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HUMAN PIEBALDISM 172800 False 3 50;50;0 6.447 False ENSG00000157404 ENSG00000157404 HGNC:6342 KLF1 gene KLF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 21055716 False 3 50;50;0 6.447 False Other ENSG00000105610 ENSG00000105610 HGNC:6345 KLF7 gene KLF7 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KLF7-related developmental disorder 29251763 False 3 100;0;0 6.447 False ENSG00000118263 ENSG00000118263 HGNC:6350 KLHL20 gene KLHL20 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KLHL20-related developmental disorder with seizures;Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities, OMIM:621390 36214804 False 3 100;0;0 6.447 False ENSG00000076321 ENSG00000076321 HGNC:25056 KLHL40 gene KLHL40 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE 615348 23746549 False 3 50;50;0 6.447 False ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL7 gene KLHL7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa;Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa 29074562;27392078 False 3 50;50;0 6.447 False ENSG00000122550 ENSG00000122550 HGNC:15646 KMT2A gene KMT2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WIEDEMANN-STEINER SYNDROME 605130 24818805;30841869;22795537;25929198;32311999;24886118;27759909;28815892;25810209;29203834;27777327;31044088;31168168;31250358;30549396;27320412 False 3 50;50;0 6.447 False ENSG00000118058 ENSG00000118058 HGNC:7132 KMT2B gene KMT2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complex early-onset dystonia 27839873;27992417 False 3 50;50;0 6.447 False ENSG00000272333 ENSG00000272333 HGNC:15840 KMT2C gene KMT2C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 29276005;29069077 False 3 50;50;0 6.447 False ENSG00000055609 ENSG00000055609 HGNC:13726 KMT2D gene KMT2D DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KABUKI SYNDROME 147920 29283410;27573763;31935506;28404210;31949313;29482518;25944076;24739679;32083401;27302555;25142838;30569626;27530205;25972376;35060672;20711175;21607748;29914387;28295206;21671394 False 3 50;50;0 6.447 False ENSG00000167548 ENSG00000167548 HGNC:7133 KMT2E gene KMT2E DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY;Neurodevelopmental disorder and Epilepsy 618512 31079897;34321323 False 3 50;50;0 6.447 False ENSG00000005483 ENSG00000005483 HGNC:18541 KMT5B gene KMT5B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KMT5B syndrome 29276005;28135719 False 3 50;50;0 6.447 False ENSG00000110066 ENSG00000110066 HGNC:24283 KNL1 gene KNL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0011437;KNL1-related primary microcephaly;OMIM:604321.0 26621532;37937525;27149178;26626498;27784895;22983954 False 3 100;0;0 6.447 False ENSG00000137812 ENSG00000137812 HGNC:24054 KPTN gene KPTN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MACROCEPHALY, NEURODEVELOPMENTAL DELAY, AND SEIZURES 24239382 False 3 50;50;0 6.447 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOFACIOCUTANEOUS SYNDROME 115150;NOONAN SYNDROME TYPE 3 609942 16773572;16474405;19396835 False 3 50;50;0 6.447 False Other ENSG00000133703 ENSG00000133703 HGNC:6407 KRIT1 gene KRIT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRAL CAVERNOUS MALFORMATIONS TYPE 1, OMIM:116860 False 3 50;50;0 6.447 False ENSG00000001631 ENSG00000001631 HGNC:1573 KRT74 gene KRT74 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOTRICHOSIS SIMPLEX OF THE SCALP 2 613981 21188418 False 3 50;50;0 6.447 False ENSG00000170484 ENSG00000170484 HGNC:28929 L1CAM gene L1CAM DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME 303350;SPASTIC PARAPLEGIA X-LINKED TYPE 1 303350;HYDROCEPHALUS DUE TO STENOSIS OF THE AQUEDUCT OF SYLVIUS 307000;PARTIAL AGENESIS OF THE CORPUS CALLOSUM 304100 3460961;15368500;7920660;9643285;9279760;8401576;15148591;1303258;8929944;18136715;11857550;26916325;8401593;7881431;7920659 False 3 50;50;0 6.447 False ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal L-2-HYDROXYGLUTARIC ACIDURIA 236792 15385440;19911013 False 3 50;50;0 6.447 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMA1 gene LAMA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBELLAR DYSPLASIA WITH CYSTS WITH OR WITHOUT RETINAL DYSTROPHY 615960;AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992;25105227 False 3 50;50;0 6.447 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA2 gene LAMA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL MUSCULAR DYSTROPHY 607855 12601554;11591858;9158149;18700894;7550355;11071490;16216942;12552556 False 3 50;50;0 6.447 False ENSG00000196569 ENSG00000196569 HGNC:6482 LAMB1 gene LAMB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES 615191 False 3 50;50;0 6.447 False ENSG00000091136 ENSG00000091136 HGNC:6486 LAMC3 gene LAMC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OCCIPITAL CORTICAL MALFORMATIONS 614115 21572413 False 3 50;50;0 6.447 False ENSG00000050555 ENSG00000050555 HGNC:6494 LAMP2 gene LAMP2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, OMIM:300257 8504498;12112061;15673802;15253947;30857840;16217705;20173215;15907287;19588270;30681346;3087571;19057086;10972294 False 3 50;50;0 6.447 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A6 613154;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B6 608840 17436019;19299310;12966029;21248746;19067344 False 3 50;50;0 6.447 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARP7 gene LARP7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ALAZAMI SYNDROME 615071 21937992;26374271;26607181 False 3 50;50;0 6.447 False ENSG00000174720 ENSG00000174720 HGNC:24912 LARS2 gene LARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PERRAULT SYNDROME 23541342 False 3 50;50;0 6.447 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA 215140 12618959 False 3 50;50;0 6.447 False ENSG00000143815 ENSG00000143815 HGNC:6518 LEF1 gene LEF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEF1-related ectodermal dysplasia and limb malformation;Ectodermal dysplasia 17 with or without limb malformations, OMIM:621224;ectodermal dysplasia 17 with or without limb malformations, MONDO:0979228 35583550 False 3 100;0;0 6.447 False ENSG00000138795 ENSG00000138795 HGNC:6551 LEMD2 gene LEMD2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nuclear Envelopathy with Early Progeroid Appearance 30905398 False 3 50;50;0 6.447 False ENSG00000161904 ENSG00000161904 HGNC:21244 LEMD3 gene LEMD3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MELORHEOSTOSIS 155950;BUSCHKE-OLLENDORFF SYNDROME 166700 19438932;12749062;17223882;15489854;9295073 False 3 50;50;0 6.447 False ENSG00000174106 ENSG00000174106 HGNC:28887 LETM1 gene LETM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LETM1-related neurodevelopmental disorder 36055214 False 3 100;0;0 6.447 False ENSG00000168924 ENSG00000168924 HGNC:6556 LFNG gene LFNG DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOCOSTAL DYSOSTOSIS TYPE 3, OMIM:609813 16385447 False 3 50;50;0 6.447 False ENSG00000106003 ENSG00000106003 HGNC:6560 LGI4 gene LGI4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARTHROGRYPOSIS MULTIPLEX CONGENITA 28318499 False 3 50;50;0 6.447 False ENSG00000153902 ENSG00000153902 HGNC:18712 LHX2 gene LHX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LHX2-related neurodevelopmental disorder with or without microcephaly 37057675 False 3 100;0;0 6.447 False ENSG00000106689 ENSG00000106689 HGNC:6594 LHX3 gene LHX3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PITUITARY HORMONE DEFICIENCY COMBINED TYPE 3 221750 18407919;10835633;17327381 False 3 50;50;0 6.447 False ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LHX4-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 290135 False 3 50;50;0 6.447 False ENSG00000121454 ENSG00000121454 HGNC:21734 LIAS gene LIAS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation 22152680;26108146 False 3 50;50;0 6.447 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIFR gene LIFR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedeman syndrome, OMIM:601559 27194968;14740318 False 3 100;0;0 6.447 False ENSG00000113594 ENSG00000113594 HGNC:6597 LIG4 gene LIG4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION 602450;LIG4 SYNDROME 606593 11779494;16357942 False 3 50;50;0 6.447 False ENSG00000174405 ENSG00000174405 HGNC:6601 LINGO1 gene LINGO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LINGO1 related intellectual disability with microcephaly, speech and motor delay 28837161 False 3 50;50;0 6.447 False ENSG00000169783 ENSG00000169783 HGNC:21205 LINS1 gene LINS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 3 50;50;0 6.447 False ENSG00000140471 ENSG00000140471 HGNC:30922 LIPN gene LIPN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS, LAMELLAR, 4 613943 21439540 False 3 50;50;0 6.447 False ENSG00000204020 ENSG00000204020 HGNC:23452 LIPT1 gene LIPT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. 27247813;24341803;24256811 False 3 50;50;0 6.447 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy 28757203 False 3 50;50;0 6.447 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMBRD1 gene LMBRD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLF 277380 19136951 False 3 50;50;0 6.447 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMNA gene LMNA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EMERY-DREIFUSS MUSCULAR DYSTROPHY TYPE 2, OMIM:181350;FAMILIAL PARTIAL LIPODYSTROPHY TYPE 2, OMIM:151660;CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1, OMIM:605588;HUTCHINSON-GILFORD PROGERIA SYNDROME, OMIM:176670 10587585;10655060 False 3 50;50;0 6.447 False ENSG00000160789 ENSG00000160789 HGNC:6636 LMNB1 gene LMNB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LMNB1-associated developmental disorder 32910914;33033404 False 3 100;0;0 6.447 False ENSG00000113368 ENSG00000113368 HGNC:6637 LMNB2 gene LMNB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LMNB2-related Primary Microcephaly 33033404 False 3 100;0;0 6.447 False ENSG00000176619 ENSG00000176619 HGNC:6638 LMOD2 gene LMOD2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LMOD2-related infantile dilated cardiomyopathy 35188328;34888509;35082396;31517052;37296576 False 3 100;0;0 6.447 False ENSG00000170807 ENSG00000170807 HGNC:6648 LMOD3 gene LMOD3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEMALINE MYOPATHY 10, OMIM:616165 31572445;30642739;28815944;30291184;25250574;29331079;32008911 False 3 100;0;0 6.447 False ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1B gene LMX1B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NAIL-PATELLA SYNDROME 161200 10854116;9837817;9590287;9618165;18414507 False 3 50;50;0 6.447 False ENSG00000136944 ENSG00000136944 HGNC:6654 LNPK gene LNPK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Recessive Neurodevelopmental Syndrome 35599435;30032983 False 3 50;50;0 6.447 False ENSG00000144320 ENSG00000144320 HGNC:21610 LONP1 gene LONP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CODAS SYNDROME 600373 34547244;25574826 False 3 50;50;0 6.447 False ENSG00000196365 ENSG00000196365 HGNC:9479 LRAT gene LRAT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 608553 False 3 50;50;0 6.447 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRBA gene LRBA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA 614700 22608502 False 3 50;50;0 6.447 False ENSG00000198589 ENSG00000198589 HGNC:1742 LRIG2 gene LRIG2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UROFACIAL SYNDROME 236730 False 3 50;50;0 6.447 False ENSG00000198799 ENSG00000198799 HGNC:20889 LRIT3 gene LRIT3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE COMPLETE CONGENITAL STATIONARY NIGHT BLINDNESS 615058 23246293 False 3 50;50;0 6.447 False ENSG00000183423 ENSG00000183423 HGNC:24783 LRP2 gene LRP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DONNAI-BARROW SYNDROME, OMIM:222448;INTELLECTUAL DISABILITY, OMIM:616579 17632512;29388841;23992033;23033978;19577669 False 3 100;0;0 6.447 False ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CENANI-LENZ SYNDACTYLY SYNDROME 212780 18978656;9182770;11260233;14577675;10756427;12868467;20381006 False 3 50;50;0 6.447 False ENSG00000134569 ENSG00000134569 HGNC:6696 LRP5 gene LRP5 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal VITREORETINOPATHY EXUDATIVE TYPE 4 601813;OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME 259770;HIGH BONE MASS TRAIT 601884;OSTEOPETROSIS AUTOSOMAL DOMINANT TYPE 1 607634;ENDOSTEAL HYPEROSTOSIS WORTH TYPE 144750 15981244;14727154;11719191;9056564;15024691;20034086;12579474;11741193;9831343 False 3 50;50;0 6.447 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRPAP1 gene LRPAP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MYOPIA 23, AUTOSOMAL RECESSIVE 615431;EXTREME MYOPIA 23830514 False 3 50;50;0 6.447 False ENSG00000163956 ENSG00000163956 HGNC:6701 LRPPRC gene LRPPRC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME, FRENCH-CANADIAN TYPE 220111 12529507 False 3 50;50;0 6.447 False ENSG00000138095 ENSG00000138095 HGNC:15714 LRRC56 gene LRRC56 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mucociliary Clearance and Laterality Defects 30388400 False 3 100;0;0 6.447 False ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DISKINESIA 614935 23122589 False 3 50;50;0 6.447 False ENSG00000129295 ENSG00000129295 HGNC:16725 LTBP1 gene LTBP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LTBP1-related cutis laxa and craniosynostosis 33991472 False 3 100;0;0 6.447 False ENSG00000049323 ENSG00000049323 HGNC:6714 LTBP2 gene LTBP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROSPHEROPHAKIA 251750;PRIMARY CONGENITAL GLAUCOMA TYPE 3D 613086 20617341;19361779;22025892;19656777;20179738 False 3 50;50;0 6.447 False ENSG00000119681 ENSG00000119681 HGNC:6715 LTBP3 gene LTBP3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA 601216 25669657 False 3 50;50;0 6.447 False ENSG00000168056 ENSG00000168056 HGNC:6716 LYST gene LYST DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHEDIAK-HIGASHI SYNDROME 214500 9215680;11857544;8896560;8751863;10482950;9215679;8751864 False 3 50;50;0 6.447 False ENSG00000143669 ENSG00000143669 HGNC:1968 LZTR1 gene LZTR1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Noonan syndrome 29959388;31825158;25795793;30859559;30664951;30368668;31533111 False 3 50;50;0 6.447 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAB21L1 gene MAB21L1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Cerebello-Oculo-Facio-Genital syndrome 30487245;27103078 False 3 50;50;0 6.447 False ENSG00000180660 ENSG00000180660 HGNC:6757 MAB21L2 gene MAB21L2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal MICROPHTHALMIA, SYNDROMIC 14 615877 25719200;24906020;26116559 False 3 50;50;0 6.447 False ENSG00000181541 ENSG00000181541 HGNC:6758 MACF1 gene MACF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Defects in Neuronal Migration and Axon Guidance 30471716 False 3 50;50;0 6.447 False ENSG00000127603 ENSG00000127603 HGNC:13664 MADD gene MADD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MADD-related developmental disorder 32761064 False 3 100;0;0 6.447 False ENSG00000110514 ENSG00000110514 HGNC:6766 MAF gene MAF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MAF-related cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation, OMIM:601088;MAF-related cataract, OMIM:610202 29314435;24664492;11772997;16470690;25865493;30659945 False 3 50;50;0 6.447 False ENSG00000178573 ENSG00000178573 HGNC:6776 MAFB gene MAFB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, OMIM:166300;Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects 27181683;22387013 False 3 100;0;0 6.447 False ENSG00000204103 ENSG00000204103 HGNC:6408 MAGEL2 gene MAGEL2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Schaaf-Yang syndrome, OMIM:615547 27195816;26365340;24076603 False 3 100;0;0 6.447 False ENSG00000254585 ENSG00000254585 HGNC:6814 MAMLD1 gene MAMLD1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females X-LINKED HYPOSPADIAS TYPE 2 300758 17086185 False 3 50;50;0 6.447 False ENSG00000013619 ENSG00000013619 HGNC:2568 MAN1B1 gene MAN1B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992;26279649;24566669;26577042;21763484;24348268 False 3 50;50;0 6.447 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LYSOSOMAL ALPHA-MANNOSIDOSIS 248500 9758606;9158146;4358183;22161967 False 3 50;50;0 6.447 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAN2C1 gene MAN2C1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MAN2C1-associated neurodevelopmental disorder with cerebral malformations 35045343 False 3 100;0;0 6.447 False ENSG00000140400 ENSG00000140400 HGNC:6827 MANBA gene MANBA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LYSOSOMAL BETA-MANNOSIDOSIS 248510 1499588;16401745;3762648;2079835;12890191;1623631 False 3 50;50;0 6.447 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females BRUNNER SYNDROME 300615 24169519 False 3 50;50;0 6.447 False ENSG00000189221 ENSG00000189221 HGNC:6833 MAP2K1 gene MAP2K1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOFACIOCUTANEOUS SYNDROME 115150 False 3 50;50;0 6.447 False Other ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOFACIOCUTANEOUS SYNDROME 115150 False 3 50;50;0 6.447 False Other ENSG00000126934 ENSG00000126934 HGNC:6842 MAP3K1 gene MAP3K1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 46XY SEX REVERSAL 6 613762 21129722;5419329;12476449 False 3 50;50;0 6.447 False ENSG00000095015 ENSG00000095015 HGNC:6848 MAP3K20 gene MAP3K20 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0054695;MAP3K20-related ectodermal dysplasia with craniosynostosis, sensorineural hearing loss, and limb anomalies;OMIM:617760.0;MAP3K20-related centronuclear myopathy;OMIM:616890.0;MAP3K20-related split-foot malformation with mesoaxial polydactyly;MONDO:0014816 26755636;32021595;38451290;27816943 False 3 100;0;0 6.447 False ENSG00000091436 ENSG00000091436 HGNC:17797 MAP3K7 gene MAP3K7 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FRONTOMETAPHYSEAL DYSPLASIA 305620;Cardiospondylocarpofacial syndrome 27426733;27426734 False 3 50;50;0 6.447 False ENSG00000135341 ENSG00000135341 HGNC:6859 MAP4K4 gene MAP4K4 DD-Gene2Phenotype;Expert Review Green;Literature DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MAP4K4-related neurodevelopmental disorder with/without congenital anomalies;multiple congenital anomalies;neurodevelopmental differences 36469137;28518170;37126546;37126546 False 3 100;0;0 6.447 False ENSG00000071054 ENSG00000071054 HGNC:6866 MAPK1 gene MAPK1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MAPK1-related Neurodevelopmental Disorder 32721402 False 3 100;0;0 6.447 False Other ENSG00000100030 ENSG00000100030 HGNC:6871 MAPK8IP3 gene MAPK8IP3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability with Variable Brain Anomalies 30612693 False 3 50;50;0 6.447 False ENSG00000138834 ENSG00000138834 HGNC:6884 MAPKAPK5 gene MAPKAPK5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MAPKAPK5-associated syndrome with synpolydactyly 35575217;33442026 False 3 100;0;0 6.447 False ENSG00000089022 ENSG00000089022 HGNC:6889 MAPRE2 gene MAPRE2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Circumferential Skin Creases Kunze Type 26637975 False 3 50;50;0 6.447 False ENSG00000166974 ENSG00000166974 HGNC:6891 MASP1 gene MASP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3MC SYNDROME 1 257920 21258343;21035106;17937425 False 3 50;50;0 6.447 False ENSG00000127241 ENSG00000127241 HGNC:6901 MAST1 gene MAST1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MAST1-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000105613 ENSG00000105613 HGNC:19034 MAST3 gene MAST3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MAST3-related developmental and epileptic encephalopathy 34185323;35095415 False 3 100;0;0 6.447 False Other ENSG00000099308 ENSG00000099308 HGNC:19036 MAT1A gene MAT1A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850 7560086;4421454;3812486;8770875;1527987;7229751;1683972;10677294 False 3 50;50;0 6.447 False ENSG00000151224 ENSG00000151224 HGNC:6903 MATN3 gene MATN3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 5 607078 14729835;15948199;13849708;11479597 False 3 50;50;0 6.447 False ENSG00000132031 ENSG00000132031 HGNC:6909 MBD5 gene MBD5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EHMT1-LIKE INTELLECTUAL DISABILITY 23422940 False 3 50;50;0 6.447 False ENSG00000204406 ENSG00000204406 HGNC:20444 MBOAT7 gene MBOAT7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability Accompanied by Epilepsy and Autistic Features 27616480 False 3 50;50;0 6.447 False ENSG00000125505 ENSG00000125505 HGNC:15505 MC2R gene MC2R DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLUCOCORTICOID DEFICIENCY 1 202200 18407210;18492762;8094489;8636348;8227361;12213892 False 3 50;50;0 6.447 False ENSG00000185231 ENSG00000185231 HGNC:6930 MCCC1 gene MCCC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY 210200 False 3 50;50;0 6.447 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY 210210 False 3 50;50;0 6.447 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONYL-COA EPIMERASE DEFICIENCY 251120 16752391 False 3 50;50;0 6.447 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOLIPIDOSIS IV 252650 11030752;10441585;10973263;15523648;17239335 False 3 50;50;0 6.447 False ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY PRIMARY TYPE 1 251200 20978018;7693575;16311745;12046007;11857108 False 3 50;50;0 6.447 False ENSG00000147316 ENSG00000147316 HGNC:6954 MDH2 gene MDH2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Early-Onset Severe Encephalopathy 27989324 False 3 50;50;0 6.447 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECOM gene MECOM DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 26581901 False 3 50;50;0 6.447 False Other ENSG00000085276 ENSG00000085276 HGNC:3498 MECP2 gene MECP2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE 300260;MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13 300055;CHROMOSOME XQ28 DUPLICATION SYNDROME 300815;ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS 300673;RETT SYNDROME (RTT)[ 312750 15689435;10232754;11313756;11402105;19034540;11007980;9377804;10814718;15034579;10854091;29618507;11238684;16966553;12481990;10508514;10767337;11022934;16630165;12615169;15857422;18989701;10577905;11930274;11807877;11214906 False 3 50;50;0 6.447 False ENSG00000169057 ENSG00000169057 HGNC:6990 MECR gene MECR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Childhood-Onset Dystonia and Optic Atrophy 27817865 False 3 50;50;0 6.447 False ENSG00000116353 ENSG00000116353 HGNC:19691 MED11 gene MED11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MED11-associated neurodevelopmental disorder 36001086 False 3 100;0;0 6.447 False ENSG00000161920 ENSG00000161920 HGNC:32687 MED12 gene MED12 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OPITZ-KAVEGGIA SYNDROME 305450;LUJAN-FRYNS SYNDROME 309520 33244166;17369503;31536828;6711603;24123922;17334363;24715367;28544239;27980443;27312080;33244165;30006928;27286923;27500536;35385210 False 3 50;50;0 6.447 False ENSG00000184634 ENSG00000184634 HGNC:11957 MED13 gene MED13 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MED13 - Neurodevelopment disorder 29740699 False 3 50;50;0 6.447 False ENSG00000108510 ENSG00000108510 HGNC:22474 MED13L gene MED13L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 25712080;29511999;25758992;25137640;24781760;28371282;28645799;29159987;29959045;23403903 False 3 50;50;0 6.447 False ENSG00000123066 ENSG00000123066 HGNC:22962 MED17 gene MED17 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY 613668 20950787 False 3 50;50;0 6.447 False ENSG00000042429 ENSG00000042429 HGNC:2375 MED25 gene MED25 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Basel-Vanagaite-Smirin-Yosef Syndrome, OMIM:616449 31602195;25792360;25527630;32324310 False 3 100;0;0 6.447 False ENSG00000104973 ENSG00000104973 HGNC:28845 MED27 gene MED27 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MED27-related neurodevelopmental disorder 33443317 False 3 100;0;0 6.447 False ENSG00000160563 ENSG00000160563 HGNC:2377 MEF2C gene MEF2C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION-STEREOTYPIC MOVEMENTS-EPILEPSY AND/OR CEREBRAL MALFORMATIONS 613443 19592390;34022131;35719119;20513142;23001426 False 3 50;50;0 6.447 False ENSG00000081189 ENSG00000081189 HGNC:6996 MEGF10 gene MEGF10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MYOPATHY, EARLY-ONSET, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA 614399 17236770;22101682;22371254 False 3 50;50;0 6.447 False ENSG00000145794 ENSG00000145794 HGNC:29634 MEGF8 gene MEGF8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CARPENTER SYNDROME 201000 False 3 50;50;0 6.447 False ENSG00000105429 ENSG00000105429 HGNC:3233 MEIS2 gene MEIS2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MEIS2-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000134138 ENSG00000134138 HGNC:7001 MEOX1 gene MEOX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KLIPPEL-FEIL ANOMALY 118100 False 3 50;50;0 6.447 False ENSG00000005102 ENSG00000005102 HGNC:7013 MESD gene MESD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OSTEOGENESIS IMPERFECTA 31564437 False 3 50;50;0 6.447 False ENSG00000117899 ENSG00000117899 HGNC:13520 MESP2 gene MESP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOCOSTAL DYSOSTOSIS TYPE 2 608681 15122512;18485326 False 3 50;50;0 6.447 False ENSG00000188095 ENSG00000188095 HGNC:29659 METTL23 gene METTL23 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METTL23-related Intellectual Disability 32067349;24626631;24501276 False 3 100;0;0 6.447 False ENSG00000181038 ENSG00000181038 HGNC:26988 METTL5 gene METTL5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 72, OMIM:618665 31564433 False 3 50;50;0 6.447 False ENSG00000138382 ENSG00000138382 HGNC:25006 MFF gene MFF DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2, OMIM:617086 26783368;30581454;22499341;32181496 False 3 100;0;0 6.447 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MFN2-related developmental disorder 33057194 False 3 100;0;0 6.447 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFRP gene MFRP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NANOPHTHALMOS 2 609549;MICROPHTHALMIA ISOLATED TYPE 5 611040 15976030;17167404;1258954 False 3 50;50;0 6.447 False ENSG00000235718 ENSG00000235718 HGNC:18121 MFSD2A gene MFSD2A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephaly 15, primary, autosomal recessive, 616486 26005865 False 3 50;50;0 6.447 False ENSG00000168389 ENSG00000168389 HGNC:25897 MFSD8 gene MFSD8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MFSD8-RELATED NEURONAL CEROID-LIPOFUSCINOSIS 610951 False 3 50;50;0 6.447 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A 212066 8808595;11228641;20684000 False 3 50;50;0 6.447 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGP gene MGP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KEUTEL SYNDROME 245150 9916809;15810001 False 3 50;50;0 6.447 False ENSG00000111341 ENSG00000111341 HGNC:7060 MICU1 gene MICU1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MYOPATHY WITH EXTRAPYRAMIDAL SIGNS 615673 24336167 False 3 50;50;0 6.447 False ENSG00000107745 ENSG00000107745 HGNC:1530 MID1 gene MID1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females OPITZ G/BBB SYNDROME, X-LINKED 300000 17221865;12545276;15558842 False 3 50;50;0 6.447 False ENSG00000101871 ENSG00000101871 HGNC:7095 MIR140 gene MIR140 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MONDO:0032835;MIR140-related spondyloepiphyseal dysplasia, Nishimura type 30804514 False 3 100;0;0 6.447 False Other ENSG00000208017 ENSG00000208017 HGNC:31527 MIR17HG gene MIR17HG DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FEINGOLD SYNDROME 614326 21892160 False 3 50;50;0 6.447 False ENSG00000215417 ENSG00000215417 HGNC:23564 MIR184 gene MIR184 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EDICT SYNDROME 614303;KERATOCONUS WITH CATARACT 24138095;23833072;21996275;27195078;25373792 False 3 50;50;0 6.447 False ENSG00000207695 ENSG00000207695 HGNC:31555 MITF gene MITF DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal TIETZ SYNDROME, OMIM:103500;WAARDENBURG SYNDROME TYPE 2A, OMIM:193510;Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness, OMIM:617306 8490648;9158138;10851256;7874167;9856573;8589691;27889061 False 3 100;0;0 6.447 False ENSG00000187098 ENSG00000187098 HGNC:7105 MKKS gene MKKS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 6 209900;MCKUSICK-KAUFMAN SYNDROME 236700 10802661 False 3 50;50;0 6.447 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MECKEL SYNDROME TYPE 1 249000;BARDET-BIEDL SYNDROME TYPE 13 209900 17377820;16415886 False 3 50;50;0 6.447 False ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEUKOENCEPHALOPATHY MEGALENCEPHALIC WITH SUBCORTICAL CYSTS 604004 11935341;11254442;12189496;21624973;14615938 False 3 50;50;0 6.447 False ENSG00000100427 ENSG00000100427 HGNC:17082 MLYCD gene MLYCD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MALONYL-COA DECARBOXYLASE DEFICIENCY 167676 False 3 50;50;0 6.447 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA TYPE CBLA 251100 12438653 False 3 50;50;0 6.447 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA TYPE CBLB 251110 12471062 False 3 50;50;0 6.447 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE 277400 20631720;16311595;16714133;25687216;11320193 False 3 50;50;0 6.447 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA TYPE CBLD 277410 False 3 50;50;0 6.447 False ENSG00000168288 ENSG00000168288 HGNC:25221 MMGT1 gene MMGT1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MMGT1-related developmental disorder 33057194 False 3 100;0;0 6.447 False ENSG00000169446 ENSG00000169446 HGNC:28100 MMP13 gene MMP13 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal METAPHYSEAL ANADYSPLASIA TYPE 1 602111;SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE 602111 19615667;8412645 False 3 50;50;0 6.447 False ENSG00000137745 ENSG00000137745 HGNC:7159 MMP21 gene MMP21 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MMP21-associated heterotaxy 26437028;26437029;26429889 False 3 50;50;0 6.447 False ENSG00000154485 ENSG00000154485 HGNC:14357 MN1 gene MN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MN1 C-terminal truncation syndrome 31839203;31834374;21242494 False 3 100;0;0 6.447 False ENSG00000169184 ENSG00000169184 HGNC:7180 MNX1 gene MNX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CURRARINO SYNDROME 176450 15216552;16906559;10631160;7550324;9843207 False 3 50;50;0 6.447 False ENSG00000130675 ENSG00000130675 HGNC:4979 MOCS1 gene MOCS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MOLYBDENUM COFACTOR DEFICIENCY 603707 False 3 50;50;0 6.447 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MOLYBDENUM COFACTOR DEFICIENCY 603707 False 3 50;50;0 6.447 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 False 3 50;50;0 6.447 False ENSG00000115275 ENSG00000115275 HGNC:24862 MORC2 gene MORC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MORC2 - axonal neuropathy 32693025;30624633;28771897;26497905 False 3 50;50;0 6.447 False ENSG00000133422 ENSG00000133422 HGNC:23573 MPDU1 gene MPDU1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 11733556;11733564 False 3 50;50;0 6.447 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 9525984;9585601;3080572 False 3 50;50;0 6.447 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPLKIP gene MPLKIP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TRICHOTHIODYSTROPHY NON-PHOTOSENSITIVE TYPE 1 234050 False 3 50;50;0 6.447 False ENSG00000168303 ENSG00000168303 HGNC:16002 MPV17 gene MPV17 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 6 256810 16582910;18695062 False 3 50;50;0 6.447 False ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEUROPATHY, CONGENITAL HYPOMYELINATING, 2, OMIM:618184 15184631;8816708;12953275;26310628 False 3 100;0;0 6.447 False ENSG00000158887 ENSG00000158887 HGNC:7225 MRAS gene MRAS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME 11, OMIM:618499 28289718;31173466;31108500 False 3 100;0;0 6.447 False Other ENSG00000158186 ENSG00000158186 HGNC:7227 MRE11 gene MRE11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATAXIA TELANGIECTASIA-LIKE DISORDER 604391 11371508;24332946;15269180;10612394 False 3 50;50;0 6.447 False ENSG00000020922 ENSG00000020922 HGNC:7230 MRPS2 gene MRPS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Sensorineural Hearing Loss Hypoglycemia and Multiple OXPHOS Complex Deficiencies 29576219 False 3 50;50;0 6.447 False ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 611719 17873122 False 3 50;50;0 6.447 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Leigh Syndrome with Instability of the Small Mitoribosomal Subunit 28777931 False 3 50;50;0 6.447 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSL2 gene MSL2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MSL2-related developmental disorder (monoallelic) 33057194;31332282 False 3 100;0;0 6.447 False ENSG00000174579 ENSG00000174579 HGNC:25544 MSL3 gene MSL3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MSL3 syndrome 30224647 False 3 50;50;0 6.447 False ENSG00000005302 ENSG00000005302 HGNC:7370 MSX1 gene MSX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLEFT LIP +/- CLEFT PALATE 608874 11369996;15354328;12807959 False 3 50;50;0 6.447 False ENSG00000163132 ENSG00000163132 HGNC:7391 MSX2 gene MSX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM 168550;CRANIOSYNOSTOSIS, TYPE 2 604757 14571277 False 3 50;50;0 6.447 False ENSG00000120149 ENSG00000120149 HGNC:7392 MTFMT gene MTFMT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MTFMT-related mitochondrial disease with regression and lactic acidosis 30911575;23499752;21907147;24461907;32133637 False 3 100;0;0 6.447 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFR gene MTHFR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY 236250 False 3 50;50;0 6.447 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTM1 gene MTM1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MYOTUBULAR MYOPATHY, X-LINKED 310400 9285787;8640223;12707446;7611280;9450905;12859411;11552027;10790201 False 3 50;50;0 6.447 False ENSG00000171100 ENSG00000171100 HGNC:7448 MTO1 gene MTO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE HYPERTROPHIC CARDIOMYOPATHY AND LACTIC ACIDOSIS 614702 22608499 False 3 50;50;0 6.447 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTOR gene MTOR DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Smith-Kingsmore syndrome, OMIM:616638 23934111;28892148 False 3 100;0;0 6.447 False ENSG00000198793 ENSG00000198793 HGNC:3942 MTR gene MTR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLCOBALAMIN DEFICIENCY TYPE G 250940 8968737;12068375;8968736;9683607 False 3 50;50;0 6.447 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE 236270 15714522;9501215;12555939 False 3 50;50;0 6.447 False ENSG00000124275 ENSG00000124275 HGNC:7473 MTSS1L gene MTSS1L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MTSS2-associated syndromic intellectual disability 36067766 False 3 100;0;0 6.447 False ENSG00000132613 ENSG00000132613 HGNC:25094 MT-TP gene MT-TP DD-Gene2Phenotype;Expert Review Green DDG2P MITOCHONDRIAL MERRF 545000 False 3 50;50;0 6.447 False ENSG00000210196 ENSG00000210196 HGNC:7494 MUT gene MUT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal METHYLMALONIC ACIDURIA TYPE MUT 251000 1670635;11528502;1977311;7909321;7951229;2881300;16451139;16281286;1968706;17966092 False 3 50;50;0 6.447 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYBPC1 gene MYBPC1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal LETHAL CONGENITAL CONTRACTURE SYNDROME 4, OMIM:614915;MYBPC1-related arthrogryposis and myopathy 31264822;31966463;22610851;26661508;25679999;20045868 False 3 100;0;0 6.447 False ENSG00000196091 ENSG00000196091 HGNC:7549 MYCN gene MYCN DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FEINGOLD SYNDROME TYPE 1 164280 16906565;15821734;18671284;18470948 False 3 50;50;0 6.447 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYF5 gene MYF5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal External Ophthalmoplegia Rib and Vertebral Anomalies 29887215 False 3 50;50;0 6.447 False ENSG00000111049 ENSG00000111049 HGNC:7565 MYH10 gene MYH10 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYH10-related Multiple congenital anomalies 25003005;25356899 False 3 50;50;0 6.447 False Other ENSG00000133026 ENSG00000133026 HGNC:7568 MYH3 gene MYH3 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal DISTAL ARTHROGRYPOSIS TYPE 2A, OMIM:193700;Recessive Spondylocarpotarsal Synostosis Syndrome 29805041;18695058;16642020 False 3 50;50;0 6.447 False ENSG00000109063 ENSG00000109063 HGNC:7573 MYH8 gene MYH8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300;CARNEY COMPLEX VARIANT, OMIM:608837 28377322;15282353 False 3 50;50;0 6.447 False ENSG00000133020 ENSG00000133020 HGNC:7578 MYH9 gene MYH9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYH9-related macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, OMIM:155100 10973259;25077172 False 3 50;50;0 6.447 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYLK gene MYLK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Megacystis Microcolon Intestinal Hypoperistalsis Syndrome 28602422 False 3 50;50;0 6.447 False ENSG00000065534 ENSG00000065534 HGNC:7590 MYLPF gene MYLPF DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MYLPF arthrogryposis (monoallelic);MYLPF arthrogryposis (biallelic) 32707087 False 3 100;0;0 6.447 False ENSG00000180209 ENSG00000180209 HGNC:29824 MYO18B gene MYO18B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM, OMIM:616549 25748484;31195167;27858739;32184166;32637634 False 3 100;0;0 6.447 False ENSG00000133454 ENSG00000133454 HGNC:18150 MYO5A gene MYO5A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ELEJALDE SYNDROME 256710;GRISCELLI SYNDROME TYPE 3 609227 22711375;9207796;12148598 False 3 50;50;0 6.447 False ENSG00000197535 ENSG00000197535 HGNC:7602 MYO5B gene MYO5B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROVILLUS INCLUSION DISEASE 251850 19006234;18724368 False 3 50;50;0 6.447 False ENSG00000167306 ENSG00000167306 HGNC:7603 MYO7A gene MYO7A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal USHER SYNDROME TYPE 1B 276900;DEAFNESS AUTOSOMAL RECESSIVE TYPE 2 600060 7870171;9171833 False 3 50;50;0 6.447 False ENSG00000137474 ENSG00000137474 HGNC:7606 MYOCD gene MYOCD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Congenital megabladder 31513549 False 3 50;50;0 6.447 False ENSG00000141052 ENSG00000141052 HGNC:16067 MYPN gene MYPN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Childhood-Onset, Slowly Progressive Nemaline Myopathy 28017374 False 3 50;50;0 6.447 False ENSG00000138347 ENSG00000138347 HGNC:23246 MYRF gene MYRF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pulmonary artery and lung hypoplasia, agonadism, omphalocele, diaphragmatic defects, hypoplastic left heart and scimitar syndrome 31069960;29446546;30532227;30070761 False 3 50;50;0 6.447 False ENSG00000124920 ENSG00000124920 HGNC:1181 MYT1L gene MYT1L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYT1L syndrome 28859103 False 3 100;0;0 6.447 False ENSG00000186487 ENSG00000186487 HGNC:7623 NAA10 gene NAA10 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked anophthalmia syndrome/Lenz;NONPECIFIC SEVERE ID;X-linked anophthalmia syndrome;OGDEN SYNDROME 300855 24431331;30842225;21700266;25099252 False 3 50;50;0 6.447 False ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER 28191889;29656860;23665959 False 3 50;50;0 6.447 False ENSG00000164134 ENSG00000164134 HGNC:30782 NACC1 gene NACC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Infantile Epilepsy, Cataracts, and Profound Developmental Delay 28132692 False 3 50;50;0 6.447 False Other ENSG00000160877 ENSG00000160877 HGNC:20967 NADSYN1 gene NADSYN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NADSYN1-related Congenital NAD Deficiency Disorder 31883644;35491967 False 3 100;0;0 6.447 False ENSG00000172890 ENSG00000172890 HGNC:29832 NAE1 gene NAE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NAE1-associated neurodevelopmental disorder with intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration 36608681 False 3 100;0;0 6.447 False ENSG00000159593 ENSG00000159593 HGNC:621 NAGA gene NAGA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SCHINDLER DISEASE 609241;KANZAKI DISEASE 609242 2564952;2243144;8071745;11251574;8782044 False 3 50;50;0 6.447 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 3B 252920 11068184;21937992;12202988;10094189;8650226;9832037 False 3 50;50;0 6.447 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY 237310 12594532;12754705 False 3 50;50;0 6.447 False ENSG00000161653 ENSG00000161653 HGNC:17996 NALCN gene NALCN DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 615419;CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 616266;SEVERE HYPOTONIA, SPEECH IMPAIRMENT, AND COGNITIVE DELAY 25683120;24075186;23749988 False 3 50;50;0 6.447 False ENSG00000102452 ENSG00000102452 HGNC:19082 NANS gene NANS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal infantile-onset severe developmental delay and skeletal dysplasia 27213289 False 3 50;50;0 6.447 False ENSG00000095380 ENSG00000095380 HGNC:19237 NAPB gene NAPB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NAPB-related Neurodevelopmental Disorder 28097321;26235277;33189936 False 3 100;0;0 6.447 False ENSG00000125814 ENSG00000125814 HGNC:15751 NARS gene NARS DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal NARS1 Neurodevelopmental Disorder (monoallelic);NARS1 Neurodevelopmental Disorder (biallelic) 32738225;32788587 False 3 100;0;0 6.447 False ENSG00000134440 ENSG00000134440 HGNC:7643 NARS2 gene NARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NARS2-associated oxidative phosphorylation deficiency 32020600;25807530;28716262;28077841;25385316;30327238;35703918;34415467;25629079 False 3 100;0;0 6.447 False ENSG00000137513 ENSG00000137513 HGNC:26274 NAXD gene NAXD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurodegenerative disorder exacerbated by febrile illnesses 30576410 False 3 50;50;0 6.447 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Lethal Neurometabolic Disorder of Early Childhood 27616477 False 3 50;50;0 6.447 False ENSG00000163382 ENSG00000163382 HGNC:18453 NBAS gene NBAS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD;ACUTE LIVER FAILURE (ALF) IN INFANCY AND CHILDHOOD;SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY 616483 26073778 False 3 50;50;0 6.447 False ENSG00000151779 ENSG00000151779 HGNC:15625 NBEA gene NBEA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NBEA Neurodevelopment disorder with seizures 30269351 False 3 50;50;0 6.447 False ENSG00000172915 ENSG00000172915 HGNC:7648 NBN gene NBN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NIJMEGEN BREAKAGE SYNDROME 251260 9590180;3802554 False 3 50;50;0 6.447 False ENSG00000104320 ENSG00000104320 HGNC:7652 NCAPG2 gene NCAPG2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe Neurodevelopmental Syndrome 30609410 False 3 50;50;0 6.447 False ENSG00000146918 ENSG00000146918 HGNC:21904 NCDN gene NCDN DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NCDN-associated neurodevelopmental disorder with seizures (monoallelic);NCDN-associated neurodevelopmental disorder with seizures (biallelic) 33711248 False 3 100;0;0 6.447 False ENSG00000020129 ENSG00000020129 HGNC:17597 NDE1 gene NDE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LISSENCEPHALY 4 614019 21529752;21529751 False 3 50;50;0 6.447 False ENSG00000072864 ENSG00000072864 HGNC:17619 NDNF gene NDNF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NDNF-related Congenital Hypogonadotrophic Hypogonadism 31883645 False 3 100;0;0 6.447 False ENSG00000173376 ENSG00000173376 HGNC:26256 NDP gene NDP DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females NORRIE DISEASE 310600 7627181;1307245;8790105;7814011;24801666;9382152;17334993;8069314;8268931;16163268;17296899;9143918;1303264;8240113;8990009 False 3 50;50;0 6.447 False ENSG00000124479 ENSG00000124479 HGNC:7678 NDST1 gene NDST1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 3 50;50;0 6.447 False ENSG00000070614 ENSG00000070614 HGNC:7680 NDUFA1 gene NDUFA1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 False 3 50;50;0 6.447 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME DUP 256000 False 3 50;50;0 6.447 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA12 gene NDUFA12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NDUFA12-associated mtochondrial complex I deficiency, OMIM:618244 33715266;21617257 False 3 100;0;0 6.447 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA6 gene NDUFA6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Early Onset Isolated Mitochondrial Complex I Deficiency 30245030 False 3 50;50;0 6.447 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA8 gene NDUFA8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NDUFA8-related developmental disorder 32385911 False 3 100;0;0 6.447 False ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFAF2 gene NDUFAF2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME 256000 False 3 50;50;0 6.447 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF8 gene NDUFAF8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NDUFAF8-related Leigh Syndrome 31866046 False 3 100;0;0 6.447 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB11 gene NDUFB11 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME 25772934 False 3 50;50;0 6.447 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NDUFB3-associated mitochondrial complex I deficiency, OMIM:618246 27091925;22499348;22277967 False 3 100;0;0 6.447 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB8 gene NDUFB8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX I DEFICIENCY, 252010 29429571 False 3 50;50;0 6.447 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFS1 gene NDUFS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010;LEIGH SYNDROME 256000 False 3 50;50;0 6.447 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS4 gene NDUFS4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010;LEIGH SYNDROME 256000;LEIGH SYNDROME DUP 256000 False 3 50;50;0 6.447 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS7 gene NDUFS7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 False 3 50;50;0 6.447 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY 252010 15159508;22499348;38229652;36101822;9837812 False 3 50;50;0 6.447 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 39525154;11349233;40207266;35482246;10080174;38626668 False 3 50;50;0 6.447 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229 26008862;33811136 False 3 100;0;0 6.447 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEB gene NEB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE TYPICAL NEMALINE MYOPATHY 256030 27105866;10051637;27933661 False 3 50;50;0 6.447 False ENSG00000183091 ENSG00000183091 HGNC:7720 NECTIN1 gene NECTIN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NECTIN1-related cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 10932188 False 3 50;50;0 6.447 False ENSG00000110400 ENSG00000110400 HGNC:9706 NECTIN4 gene NECTIN4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 613573 20691405;21346770;1646587 False 3 50;50;0 6.447 False ENSG00000143217 ENSG00000143217 HGNC:19688 NEDD4L gene NEDD4L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly 27694961;23934111;28515470 False 3 50;50;0 6.447 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEK1 gene NEK1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SHORT RIB-POLYDACTYLY SYNDORME, TYPE II 263520 False 3 50;50;0 6.447 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 615415;NEPHRONOPHTHISIS 9 613824 18199800;23418306 False 3 50;50;0 6.447 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SIALIDOSIS 256550 11829139;11702224;14695530;10944856;10767332;8985184;11470272;9054950 False 3 50;50;0 6.447 False ENSG00000204386 ENSG00000204386 HGNC:7758 NEXMIF gene NEXMIF DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) KIAA2022 300912;Intellectual disability and epilepsy 33144681;23615299;26576034;15466006;27568816;27358180 False 3 50;50;0 6.447 False ENSG00000050030 ENSG00000050030 HGNC:29433 NF1 gene NF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WATSON SYNDROME 193520;NEUROFIBROMATOSIS TYPE 1 162200;NEUROFIBROMATOSIS-NOONAN SYNDROME 601321;FAMILIAL SPINAL NEUROFIBROMATOSIS 162210 11258625;1745350;9529361;12483293;10712197;1937470;12438263;9003501;1302608;1783401;12707950;15523642;15520408;7655472;11704931;9668168;10677298;30308447;7633431;13680360;8317503;8664912;1719426;1568247;19449407;19845691;15948193 False 3 50;50;0 6.447 False ENSG00000196712 ENSG00000196712 HGNC:7765 NFE2L2 gene NFE2L2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NFE2L2-related leukoencephalopathy, immune deficiency and hypohomocysteinaemia, OMIM:617744 29018201 False 3 100;0;0 6.447 False Other ENSG00000116044 ENSG00000116044 HGNC:7782 NFIA gene NFIA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Macrocephaly with intellectual disability 17530927 False 3 50;50;0 6.447 False ENSG00000162599 ENSG00000162599 HGNC:7784 NFIB gene NFIB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability with macrocephaly;Intellectual Disability and Macrocephaly 30388402 False 3 50;50;0 6.447 False ENSG00000147862 ENSG00000147862 HGNC:7785 NFIX gene NFIX DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MARSHALL-SMITH SYNDROME 602535;SOTOS-LIKE SYNDROME 614753 20673863;29897170;22301465 False 3 50;50;0 6.447 False ENSG00000008441 ENSG00000008441 HGNC:7788 NFU1 gene NFU1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 605711 11156534;22077971 False 3 50;50;0 6.447 False ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF DEGLYCOSYLATION 615273 24651605 False 3 50;50;0 6.447 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC2 gene NHLRC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FINCA syndrome OMIM:618278;NHLRC2-related fibrosis, neurodegeneration, and cerebral angiomatosis, OMIM:618278 34165204;32435055;29423877 False 3 100;0;0 6.447 False ENSG00000196865 ENSG00000196865 HGNC:24731 NHP2 gene NHP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NHP2-related dyskeratosis congenita, OMIM:613987 37440454;31985013;30472699;18523010 False 3 50;50;0 6.447 False ENSG00000145912 ENSG00000145912 HGNC:14377 NHS gene NHS DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females NANCE-HORAN SYNDROME 302350;CATARACT CONGENITAL X-LINKED 302200 15623749;14564667;458526;2246772;19414485;11836358 False 3 50;50;0 6.447 False ENSG00000188158 ENSG00000188158 HGNC:7820 NIPBL gene NIPBL DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE SYNDROME TYPE 1 122470 15318302;15146185;11391654;15146186;16799922;35446447 False 3 50;50;0 6.447 False ENSG00000164190 ENSG00000164190 HGNC:28862 NKAP gene NKAP DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Marfanoid Habitus and Cognitive Impairment 31587868 False 3 100;0;0 6.447 False ENSG00000101882 ENSG00000101882 HGNC:29873 NKX2-1 gene NKX2-1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS 610978;BENIGN HEREDITARY CHOREA 118700 15289765 False 3 50;50;0 6.447 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-5 gene NKX2-5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900;TETRALOGY OF FALLOT 187500;CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 5 225250 20807224;16418214;11714651;19948535 False 3 50;50;0 6.447 False ENSG00000183072 ENSG00000183072 HGNC:2488 NKX3-2 gene NKX3-2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA 613330 False 3 50;50;0 6.447 False ENSG00000109705 ENSG00000109705 HGNC:951 NKX6-2 gene NKX6-2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Progressive Spastic Ataxia and Hypomyelination 28575651 False 3 50;50;0 6.447 False ENSG00000148826 ENSG00000148826 HGNC:19321 NLGN3 gene NLGN3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females AUTISM SPECTRUM DISORDERS 198890 12669065 False 3 50;50;0 6.447 False ENSG00000196338 ENSG00000196338 HGNC:14289 NLGN4X gene NLGN4X DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) SUSCEPTIBILITY TO AUTISM X-LINKED TYPE 2 300495 False 3 50;50;0 6.447 False ENSG00000146938 ENSG00000146938 HGNC:14287 NMNAT1 gene NMNAT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 608553 22842229;24830548;26464178;26316326;22842227;12734549;24940029;22842230 False 3 50;50;0 6.447 False ENSG00000173614 ENSG00000173614 HGNC:17877 NODAL gene NODAL DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HETEROTAXY SYNDROME 207574 False 3 50;50;0 6.447 False ENSG00000156574 ENSG00000156574 HGNC:7865 NOG gene NOG DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TARSAL-CARPAL COALITION SYNDROME 186570;MULTIPLE SYNOSTOSES SYNDROME TYPE 1 186500;STAPES ANKYLOSIS WITH BROAD THUMB AND TOES 184460;BRACHYDACTYLY TYPE B2 611377;SYMPHALANGISM PROXIMAL SYNDROME 185800 12089654;15770128;17668388;11846737;10069712;11545688;20503332 False 3 50;50;0 6.447 False ENSG00000183691 ENSG00000183691 HGNC:7866 NONO gene NONO DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SYNDROMIC INTELLECTUAL DISABILITY 612100 36426740;26571461;27329731 False 3 50;50;0 6.447 False ENSG00000147140 ENSG00000147140 HGNC:7871 NOP10 gene NOP10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NOP10-related dyskeratosis congenita, OMIM:224230 17507419 False 3 50;50;0 6.447 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOTCH1 gene NOTCH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION 109730;ADAMS OLIVER SYNDROME 25132448;16025100 False 3 50;50;0 6.447 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HAJDU-CHENEY SYNDROME 102500 21378985;21378989;21712856 False 3 50;50;0 6.447 False Other ENSG00000134250 ENSG00000134250 HGNC:7882 NOVA2 gene NOVA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability with ataxia/spasticity 32197073 False 3 50;50;0 6.447 False ENSG00000104967 ENSG00000104967 HGNC:7887 NPC1 gene NPC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NIEMANN-PICK DISEASE, TYPE C1 257220 11333381;9245994;9211849;12554680;10521297;11479732;11349231;10480349 False 3 50;50;0 6.447 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NIEMANN-PICK DISEASE, TYPE C2 607625 12447927;17470133;11125141;11567215 False 3 50;50;0 6.447 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME TYPE 4 609583;NEPHRONOPHTHISIS TYPE 1 256100;SENIOR-LOKEN SYNDROME TYPE 1 266900 9326933;9382140;8852662;10839884 False 3 50;50;0 6.447 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS TYPE 3 604387;RENAL-HEPATIC-PANCREATIC DYSPLASIA 208540;MECKEL SYNDROME TYPE 7 267010 19303681;12872122 False 3 50;50;0 6.447 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS TYPE 4 606966 12244321 False 3 50;50;0 6.447 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHROTIC SYNDROME TYPE 1 256300 9660941;10652016;10577936;17290294;11854170 False 3 50;50;0 6.447 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHROTIC SYNDROME, TYPE 2 600995 10742096;8606597;12464671;8589695 False 3 50;50;0 6.447 False ENSG00000116218 ENSG00000116218 HGNC:13394 NPM1 gene NPM1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis Congenita 31570891 False 3 50;50;0 6.447 False ENSG00000181163 ENSG00000181163 HGNC:7910 NPR2 gene NPR2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE 602875 15146390 False 3 50;50;0 6.447 False ENSG00000159899 ENSG00000159899 HGNC:7944 NPR3 gene NPR3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Enhanced Growth and Connective Tissue Abnormalities 30032985 False 3 50;50;0 6.447 False ENSG00000113389 ENSG00000113389 HGNC:7945 NPRL2 gene NPRL2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NPRL2-related familial focal epilepsy with or without focal cortical dysplasia 28199897;34965576;37259768;34376795;30093711;31835056;27173016;26505888 False 3 100;0;0 6.447 False ENSG00000114388 ENSG00000114388 HGNC:24969 NPRL3 gene NPRL3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NPRL3-related familial focal epilepsy with or without focal cortical dysplasia 35136953;34965576;34868250;26285051;26786403;27173016;26505888 False 3 100;0;0 6.447 False ENSG00000103148 ENSG00000103148 HGNC:14124 NR2F1 gene NR2F1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME 615722 24462372;26986877 False 3 50;50;0 6.447 False ENSG00000175745 ENSG00000175745 HGNC:7975 NR2F2 gene NR2F2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HEART DEFECTS and XX sex reversal 24702954 False 3 50;50;0 6.447 False ENSG00000185551 ENSG00000185551 HGNC:7976 NR4A2 gene NR4A2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NR4A2-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000153234 ENSG00000153234 HGNC:7981 NRAS gene NRAS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME TYPE 6 613224 19966803 False 3 50;50;0 6.447 False Other ENSG00000213281 ENSG00000213281 HGNC:7989 NRCAM gene NRCAM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NRCAM neurodevelopmental disorder with dysmorphic features, hypotonia and spasticity 35108495 False 3 100;0;0 6.447 False ENSG00000091129 ENSG00000091129 HGNC:7994 NRROS gene NRROS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification 32197075 False 3 100;0;0 6.447 False ENSG00000174004 ENSG00000174004 HGNC:24613 NRXN1 gene NRXN1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal PITT HOPKINS 2;AUTISM 209850 22405623;30031152;30873608;28289584;27195815;23495017 False 3 50;50;0 6.447 False ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WEAVER SYNDROME 277590;BECKWITH-WIEDEMANN SYNDROME 130650;SOTOS SYNDROME 117550 16222665;12525543;11896389 False 3 50;50;0 6.447 False ENSG00000165671 ENSG00000165671 HGNC:14234 NSD2 gene NSD2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rauch-Steindl syndrome, OMIM:619695;Rauch-Steindl syndrome, MONDO:0859219 False 3 100;0;0 6.447 False ENSG00000109685 ENSG00000109685 HGNC:12766 NSDHL gene NSDHL DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CK SYNDROME 300831;CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS 308050 19377476;11907515;19842190;10710235 False 3 50;50;0 6.447 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSRP1 gene NSRP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NSRP1-associated developmental delay, epilepsy and microcephaly 34385670 False 3 100;0;0 6.447 False ENSG00000126653 ENSG00000126653 HGNC:25305 NSUN2 gene NSUN2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5 611091 22541559;21063731;22577224;22541562 False 3 50;50;0 6.447 False ENSG00000037474 ENSG00000037474 HGNC:25994 NT5C3A gene NT5C3A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY 266120 False 3 50;50;0 6.447 False ENSG00000122643 ENSG00000122643 HGNC:17820 NTNG2 gene NTNG2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Developmental delay, hypotonia, and autistic features 31372774;31668703 False 3 100;0;0 6.447 False ENSG00000196358 ENSG00000196358 HGNC:14288 NTRK1 gene NTRK1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800 19250380;10233776;10330344;8145823;10982191;8696348;10090906;10861667 False 3 50;50;0 6.447 False ENSG00000198400 ENSG00000198400 HGNC:8031 NTRK2 gene NTRK2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability 29100083 False 3 50;50;0 6.447 False ENSG00000148053 ENSG00000148053 HGNC:8032 NUBPL gene NUBPL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX I DEFICIENCY 252010 False 3 50;50;0 6.447 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUDT2 gene NUDT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NUDT2-related Developmental Disorder 30059600;27431290;33058507 False 3 100;0;0 6.447 False ENSG00000164978 ENSG00000164978 HGNC:8049 NUP107 gene NUP107 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NUP107-related steroid resistant nephrotic syndrome with microcephaly, developmental delay and simplified gyration (Galloway-Mowat syndrome), OMIM:618348 28280135;26411495;30179222 False 3 50;50;0 6.447 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME 8, 618349 30427554 False 3 50;50;0 6.447 False ENSG00000069248 ENSG00000069248 HGNC:18016 NUP188 gene NUP188 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:618804.0;NUP188-related neurodegeneration, cataracts and facial dysmorphisms;MONDO:0032926 32021605;32275884 False 3 100;0;0 6.447 False ENSG00000095319 ENSG00000095319 HGNC:17859 NUP214 gene NUP214 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Acute Febrile Encephalopathy 618426 31178128 False 3 50;50;0 6.447 False ENSG00000126883 ENSG00000126883 HGNC:8064 NUP54 gene NUP54 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NUP54-related early-onset dystonia with striatal lesions 36333996 False 3 100;0;0 6.447 False ENSG00000138750 ENSG00000138750 HGNC:17359 NUP62 gene NUP62 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE STRIATONIGRAL DEGENERATION 271930 16786527 False 3 50;50;0 6.447 False ENSG00000213024 ENSG00000213024 HGNC:8066 NUS1 gene NUS1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability 29100083 False 3 50;50;0 6.447 False ENSG00000153989 ENSG00000153989 HGNC:21042 NYX gene NYX DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A 310500 11062471;11062472;16670814 False 3 50;50;0 6.447 False ENSG00000188937 ENSG00000188937 HGNC:8082 OBSL1 gene OBSL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-M SYNDROME 2 612921 19481195 False 3 50;50;0 6.447 False ENSG00000124006 ENSG00000124006 HGNC:29092 OCLN gene OCLN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OCLN-associated Band-like Calcification with Simplified Gyration and Polymicrogyria 32240828;26689621;20727516;28179633 False 3 100;0;0 6.447 False ENSG00000197822 ENSG00000197822 HGNC:8104 OCRL gene OCRL DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females DENT DISEASE TYPE 2 300555;LOWE OCULOCEREBRORENAL SYNDROME 309000 15627218;9632163;9199559 False 3 50;50;0 6.447 False ENSG00000122126 ENSG00000122126 HGNC:8108 ODC1 gene ODC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ODC1-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False Other ENSG00000115758 ENSG00000115758 HGNC:8109 OFD1 gene OFD1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) SIMPSON-GOLABI-BEHMEL SYNDROME TYPE 2 300209;ORAL-FACIAL-DIGITAL SYNDROME TYPE 1 311200;JOUBERT SYNDROME TYPE 10 300804 11950863;9198060;15221448;19800048;9482645;22353940;16783569;11179005 False 3 50;50;0 6.447 False ENSG00000046651 ENSG00000046651 HGNC:2567 OGDH gene OGDH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OGDH-related neurodevelopmental disorder 36520152;32383294 False 3 100;0;0 6.447 False ENSG00000105953 ENSG00000105953 HGNC:8124 OGDHL gene OGDHL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OGDHL-related neurodevelopmental disorder with seizures, hearing loss and gait ataxia 34800363 False 3 100;0;0 6.447 False ENSG00000197444 ENSG00000197444 HGNC:25590 OGT gene OGT DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OGT-related developmental disorder (hemizygous);OGT-related developmental disorder (X-linked dominant) False 3 100;0;0 6.447 False ENSG00000147162 ENSG00000147162 HGNC:8127 ONECUT1 gene ONECUT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ONECUT1-associated neonatal diabetes 34663987 False 3 100;0;0 6.447 False ENSG00000169856 ENSG00000169856 HGNC:8138 OPHN1 gene OPHN1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) OPHN1-related intellectual developmental disorder, OMIM:300486 12805098;20528889;12807966;30534410;24105372;29510240;33638601;9582072;16158428;32872024;18261018;29960046;27390894 False 3 50;50;0 6.447 False ENSG00000079482 ENSG00000079482 HGNC:8148 ORC1 gene ORC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEIER-GORLIN SYNDROME 1 224690 21358633 False 3 50;50;0 6.447 False ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEIER-GORLIN SYNDROME 2 613800 11477602 False 3 50;50;0 6.447 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MEIER-GORLIN SYNDROME 3 613803 7710253 False 3 50;50;0 6.447 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSGEP gene OSGEP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome with primary microcephaly 28805828 False 3 50;50;0 6.447 False ENSG00000092094 ENSG00000092094 HGNC:18028 OTC gene OTC DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females ORNITHINE TRANSCARBAMYLASE DEFICIENCY 311250 1480464;7860064;2347583;3170748;2037279;9056557;2035531;11260212;10405441;1721894;1353535;2843770 False 3 50;50;0 6.447 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTOGL gene OTOGL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MODERATE SENSORINEURAL HEARING LOSS 614944 23122586 False 3 50;50;0 6.447 False ENSG00000165899 ENSG00000165899 HGNC:26901 OTUD5 gene OTUD5 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females OTUD5-associated neurodevelopmental disorder 33748114;33131077;33523931 False 3 100;0;0 6.447 False ENSG00000068308 ENSG00000068308 HGNC:25402 OTUD6B gene OTUD6B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features 28343629 False 3 50;50;0 6.447 False ENSG00000155100 ENSG00000155100 HGNC:24281 OTULIN gene OTULIN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Otulin-related auto inflammatory syndrome 27523608;27686184;27559085 False 3 50;50;0 6.447 False ENSG00000154124 ENSG00000154124 HGNC:25118 OTX2 gene OTX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA SYNDROMIC TYPE 5 610125 15846561;26974134;19965921;28388256;20396904;18628516;19956411;27299576;18854396 False 3 50;50;0 6.447 False ENSG00000165588 ENSG00000165588 HGNC:8522 OXCT1 gene OXCT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050 10964512;23281106;1405472;9671268 False 3 50;50;0 6.447 False ENSG00000083720 ENSG00000083720 HGNC:8527 OXR1 gene OXR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction 31785787 False 3 100;0;0 6.447 False ENSG00000164830 ENSG00000164830 HGNC:15822 P3H1 gene P3H1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OSTEOGENESIS IMPERFECTA, TYPE VIII 610915 19088120;17277775 False 3 50;50;0 6.447 False ENSG00000117385 ENSG00000117385 HGNC:19316 P4HB gene P4HB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COLE-CARPENTER SYNDROME 112240 25683117 False 3 50;50;0 6.447 False ENSG00000185624 ENSG00000185624 HGNC:8548 P4HTM gene P4HTM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities, OMIM:618493 35908151;34285383;30940925;32965080 False 3 100;0;0 6.447 False ENSG00000178467 ENSG00000178467 HGNC:28858 PACS1 gene PACS1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 23159249 False 3 50;50;0 6.447 False Other ENSG00000175115 ENSG00000175115 HGNC:30032 PACS2 gene PACS2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Unspecified Neurodevelopmental Disorder 28867141;30290155 False 3 50;50;0 6.447 False ENSG00000179364 ENSG00000179364 HGNC:23794 PACSIN3 gene PACSIN3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PACSIN3-related childhood-onset myopathy with hyperCKaemia 29202928;38637313 False 3 100;0;0 6.447 False ENSG00000165912 ENSG00000165912 HGNC:8572 PAFAH1B1 gene PAFAH1B1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUBCORTICAL BAND HETEROTOPIA 607432;LISSENCEPHALY TYPE 1 607432 15007136;10441340;11502906;14581661 False 3 50;50;0 6.447 False ENSG00000007168 ENSG00000007168 HGNC:8574 PAH gene PAH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NON-PHENYLKETONURIA HYPERPHENYLALANINEMIA 261600;PHENYLKETONURIA 261600 1671810;2816939;8098245;1975559;1301200;1301947;8829656;1301201;2840952;2014802;1709636;2044609;2564729;8097261;11935335;2035532;2071149;2573272;2309142;9950317;1769645;1671881;1360590;1997387;1363838;3008810;1301193;1363837;1312992;7981714;1358789;8364546;1349576;2606484;2574002;1682235;2884570;1679030;8088845 False 3 50;50;0 6.447 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAK1 gene PAK1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental Disorder 30290153 False 3 50;50;0 6.447 False Other ENSG00000149269 ENSG00000149269 HGNC:8590 PAK3 gene PAK3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females AGENESIS OF THE CORPUS CALLOSUM;MENTAL RETARDATION X-LINKED TYPE 30 300558 12884430;18523455;8826460;17853471;24556213;9332663 False 3 50;50;0 6.447 False ENSG00000077264 ENSG00000077264 HGNC:8592 PALB2 gene PALB2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP N 610832 17200672;17200671 False 3 50;50;0 6.447 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAN2 gene PAN2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PAN2-related neurodevelopmental disorder with multiple congenital anomalies;Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384 35304602 False 3 100;0;0 6.447 False ENSG00000135473 ENSG00000135473 HGNC:20074 PAPSS2 gene PAPSS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOEPIMETAPHYSEAL DYSPLASIA PAKISTANI TYPE 612847 9714015;22791835;19474428 False 3 50;50;0 6.447 False ENSG00000198682 ENSG00000198682 HGNC:8604 PARN gene PARN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 6 25893599 False 3 50;50;0 6.447 False ENSG00000140694 ENSG00000140694 HGNC:8609 PARS2 gene PARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0032752;PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy;OMIM:618437.0 29410512;32514400;28077841;39253392;37956963;38469956;25629079;29915213;38087948 False 3 100;0;0 6.447 False ENSG00000162396 ENSG00000162396 HGNC:30563 PAX1 gene PAX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OTOFACIOCERVICAL SYNDROME, OMIM:166780 23851939;28657137;29681087 False 3 100;0;0 6.447 False ENSG00000125813 ENSG00000125813 HGNC:8615 PAX2 gene PAX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RENAL-COLOBOMA SYNDROME 120330 3377002;9106533;9760197;2644560;7795640;11461952;11093271 False 3 50;50;0 6.447 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX3 gene PAX3 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal WAARDENBURG SYNDROME, TYPE 1 193500;CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880 8490648;1887852;7726174;8664898;1347148;35607853;6859126;26443304;12949970;14556253;1303193;1308353;8447316;20478267 False 3 50;50;0 6.447 False ENSG00000135903 ENSG00000135903 HGNC:8617 PAX6 gene PAX6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COLOBOMA OF OPTIC NERVE 120430;ANIRIDIA 106210;FOVEAL HYPOPLASIA 136520;BILATERAL OPTIC NERVE HYPOPLASIA 165550;KERATITIS HEREDITARY 148190;PETERS ANOMALY 604229;ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 17595013;7668281;12721955;9931324;15629294;17148041 False 3 50;50;0 6.447 False ENSG00000007372 ENSG00000007372 HGNC:8620 PAX8 gene PAX8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HYPOTHYROIDISM NON-GOITROUS TYPE 2 218700 11232006;15356023;11502839;15718293;9590296 False 3 50;50;0 6.447 False ENSG00000125618 ENSG00000125618 HGNC:8622 PAX9 gene PAX9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TOOTH AGENESIS, SELECTIVE, 3 604625 False 3 50;50;0 6.447 False ENSG00000198807 ENSG00000198807 HGNC:8623 PBX1 gene PBX1 DD-Gene2Phenotype;Expert Review Green;Literature DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PBX1-related developmental disorder (monoallelic);Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 35451537 False 3 100;0;0 6.447 False ENSG00000185630 ENSG00000185630 HGNC:8632 PC gene PC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PYRUVATE CARBOXYLASE DEFICIENCY 266150 9585612;9585002;19306334;12112657 False 3 50;50;0 6.447 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D 264070 9585615;8352282 False 3 50;50;0 6.447 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PROPIONIC ACIDEMIA 606054 12189489;8225321;10101253;8411997;9683601;9385377;10820128;9887338;17966092;8295402 False 3 50;50;0 6.447 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PROPIONIC ACIDEMIA 606054 False 3 50;50;0 6.447 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH12 gene PCDH12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1, OMIM:251280 28804758;27164683;30178464;29556033;30459466 False 3 100;0;0 6.447 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCDH19 gene PCDH19 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9, OMIM:300088 18469813;5116697;19752159;19214208 False 3 50;50;0 6.447 False ENSG00000165194 ENSG00000165194 HGNC:14270 PCDHGC4 gene PCDHGC4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PCDHGC4-related neurodevelopmental disorder with microcephaly and seizures 34244665 False 3 100;0;0 6.447 False ENSG00000242419 ENSG00000242419 HGNC:8717 PCGF2 gene PCGF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PCGF2-related craniofacial neurological cardiovascular and skeletal features (Turnpenny-Fry syndrome), OMIM:618371 36105049;34750959;30343942;30526864 False 3 50;50;0 6.447 False Other ENSG00000056661 ENSG00000277258 HGNC:12929 PCNT gene PCNT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720 18174396;15372530;19839044 False 3 50;50;0 6.447 False ENSG00000160299 ENSG00000160299 HGNC:16068 PCYT1A gene PCYT1A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY 608940 24387991;28272537;24387990 False 3 50;50;0 6.447 False ENSG00000161217 ENSG00000161217 HGNC:8754 PCYT2 gene PCYT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COMPLEX HEREDITARY SPASTIC PARAPLEGIA, OMIM:615033 32889549;31637422 False 3 100;0;0 6.447 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDCD10 gene PDCD10 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRAL CAVERNOUS MALFORMATIONS TYPE 3 603285 16380626;15543491 False 3 50;50;0 6.447 False ENSG00000114209 ENSG00000114209 HGNC:8761 PDE10A gene PDE10A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Childhood-Onset Chorea with Bilateral Striatal Lesions 27058447 False 3 50;50;0 6.447 False ENSG00000112541 ENSG00000112541 HGNC:8772 PDE4D gene PDE4D DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACRODYSOSTOSIS 101800 22464250;22464252;23033274 False 3 50;50;0 6.447 False Other ENSG00000113448 ENSG00000113448 HGNC:8783 PDE6G gene PDE6G DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETINITIS PIGMENTOSA 57 613582 20655036 False 3 50;50;0 6.447 False ENSG00000185527 ENSG00000185527 HGNC:8789 PDE6H gene PDE6H DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RETINAL CONE DYSTROPHY 3 PDE6H 610024;ACHROMATOPSIA 27472364;22901948;15629837 False 3 0;100;0 6.447 False ENSG00000139053 ENSG00000139053 HGNC:8790 PDGFRB gene PDGFRB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PREMATURE AGING SYNDROME, PENTTINEN TYPE 601812;FAMILIAL INFANTILE MYOFIBROMATOSIS 228550 30941910;32291752;29226947;26279204;28639748;23731542;25454926 False 3 50;50;0 6.447 False Other ENSG00000113721 ENSG00000113721 HGNC:8804 PDHA1 gene PDHA1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) INTELLECTUAL DISABILTIY 312170;X-LINKED LEIGH SYNDROME 312170;PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170 8199595;1909778;1909401;3137520;10486093;1293379;12379317;9686362;7573035;1907799;2378353;2537010;8771169;8032855 False 3 50;50;0 6.447 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHX gene PDHX DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349 21937992;17152059;16566017;9399911;11935326;8584393;12557299;8229524;9467010 False 3 50;50;0 6.447 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDSS1 gene PDSS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY, PRIMARY, 2 614651 17332895 False 3 50;50;0 6.447 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COENZYME Q10 DEFICIENCY, PRIMARY, 3 614652 17186472 False 3 50;50;0 6.447 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEPD gene PEPD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PROLIDASE DEFICIENCY 170100 8900231;1972707;19308961;17142620;16470701;2365824;6637477;15309682 False 3 50;50;0 6.447 False ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 3 50;50;0 6.447 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 1 602136;ADRENOLEUKODYSTROPHY NEONATAL 202370;INFANTILE REFSUM DISEASE 266510 9398847 False 3 50;50;0 6.447 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;ADRENOLEUKODYSTROPHY NEONATAL 202370;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 7 602859 False 3 50;50;0 6.447 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B 28129423;22581968 False 3 50;50;0 6.447 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 3 601758 False 3 50;50;0 6.447 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 13 601789;ADRENOLEUKODYSTROPHY NEONATAL 202370 False 3 50;50;0 6.447 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP K 601791 False 3 50;50;0 6.447 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 9 603360 False 3 50;50;0 6.447 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 14 600279 False 3 50;50;0 6.447 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 5 170993;INFANTILE REFSUM DISEASE 266510 14630978;10528859 False 3 50;50;0 6.447 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 8 608666;ADRENOLEUKODYSTROPHY NEONATAL 202370;INFANTILE REFSUM DISEASE 266510 12851857 False 3 50;50;0 6.447 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 12 603164 False 3 50;50;0 6.447 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZELLWEGER SYNDROME 214100;ADRENOLEUKODYSTROPHY NEONATAL 202370;INFANTILE REFSUM DISEASE 266510 7719337 False 3 50;50;0 6.447 False ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Heimler syndrome 2, OMIM:616617;Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 29220678 False 3 50;50;0 6.447 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal REFSUM DISEASE 266500;RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1 215100;PEROXISOME BIOGENESIS DISORDER COMPLEMENTATION GROUP 11 601757 9090381;9090382;12325024;10083738;9090383 False 3 50;50;0 6.447 False ENSG00000112357 ENSG00000112357 HGNC:8860 PGAP1 gene PGAP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual disability, encephalopathy, impaired GPI-anchor maturation 25804403;26050939;24784135 False 3 50;50;0 6.447 False ENSG00000197121 ENSG00000197121 HGNC:25712 PGAP2 gene PGAP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DISABILITY False 3 50;50;0 6.447 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 615716 24439110 False 3 50;50;0 6.447 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females PHOSPHOGLYCERATE KINASE 1 DEFICIENCY 300653 16567715;9512313;1586722;8673469;1547346;6933565;16740138;19157875;9744480;6941312 False 3 50;50;0 6.447 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT 614921 19625727 False 3 50;50;0 6.447 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM2L1 gene PGM2L1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PGM2L1-related neurodevelopmental disorder 33979636 False 3 100;0;0 6.447 False ENSG00000165434 ENSG00000165434 HGNC:20898 PGM3 gene PGM3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IMMUNODEFICIENCY 23 615816 24931394 False 3 50;50;0 6.447 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHACTR1 gene PHACTR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PHACTR1-associated neurodevelopment disorder 23033978;30256902 False 3 50;50;0 6.447 False Other ENSG00000112137 ENSG00000112137 HGNC:20990 PHEX gene PHEX DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MONDO:0010619;PHEX-related hypophosphatemic rickets;OMIM:307800.0 2894375;18252791;15029877;39877728;39710377;16055933;34633109;32329911;38722819;35896147;37059315 False 3 100;0;0 6.447 False ENSG00000102174 ENSG00000102174 HGNC:8918 PHF12 gene PHF12 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown neurodevelopmental disorder, MONDO:0700092;PHF12-related developmental disorder False 3 100;0;0 6.447 False ENSG00000109118 ENSG00000109118 HGNC:20816 PHF21A gene PHF21A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown POTOCKI-SHAFFER SYNDROME 601224 36843358;36876344 False 3 50;50;0 6.447 False ENSG00000135365 ENSG00000135365 HGNC:24156 PHF5A gene PHF5A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PHF5A-related neurodevelopmental disorder with congenital malformations;neurodevelopmental disorder, MONDO:0700092 37422718;33811463 False 3 100;0;0 6.447 False ENSG00000100410 ENSG00000100410 HGNC:18000 PHF6 gene PHF6 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) BOERJESON-FORSSMAN-LEHMANN SYNDROME 301900 35662002;15466013;15994862;12415272 False 3 50;50;0 6.447 False ENSG00000156531 ENSG00000156531 HGNC:18145 PHF8 gene PHF8 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE 300263 10398231;17594395;16199551;17661819 False 3 50;50;0 6.447 False ENSG00000172943 ENSG00000172943 HGNC:20672 PHGDH gene PHGDH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY 601815;NEU-LAXOVA SYNDROME 256520 11034457;11055895;24836451;19235232 False 3 50;50;0 6.447 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHIP gene PHIP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental delay, ID, obesity and dysmorphic features 23033978;29209020 False 3 50;50;0 6.447 False ENSG00000146247 ENSG00000146247 HGNC:15673 PHOX2B gene PHOX2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880;NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013 16691592;16888290;12640453;12438263;15024693 False 3 50;50;0 6.447 False Other ENSG00000109132 ENSG00000109132 HGNC:9143 PI4KA gene PI4KA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PI4KA-associated polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531 34415310;34415322;25855803 False 3 100;0;0 6.447 False ENSG00000241973 ENSG00000241973 HGNC:8983 PIBF1 gene PIBF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 33, OMIM:617767 29695797;26167768 False 3 100;0;0 6.447 False ENSG00000083535 ENSG00000083535 HGNC:23352 PIDD1 gene PIDD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PIDD1-related neurodevelopmental disorder 33414379 False 3 100;0;0 6.447 False ENSG00000177595 ENSG00000177595 HGNC:16491 PIEZO1 gene PIEZO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Congenital lymphatic dysplasia with hydrops and/or lymphoedema 26387913 False 3 50;50;0 6.447 False ENSG00000103335 ENSG00000103335 HGNC:28993 PIEZO2 gene PIEZO2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal ARTHROGRYPOSIS, DISTAL, TYPE 3 114300;Ataxia, dysmetria, contractures & scoliosis with normal cognition but loss of discriminative touch perception 27974811;27653382;27912047;24726473 False 3 50;50;0 6.447 False ENSG00000154864 ENSG00000154864 HGNC:26270 PIGA gene PIGA DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 300868 22305531 False 3 50;50;0 6.447 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality 31256876 False 3 50;50;0 6.447 False ENSG00000069943 ENSG00000069943 HGNC:8959 PIGG gene PIGG DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability with Seizures and Hypotonia 26996948 False 3 50;50;0 6.447 False ENSG00000174227 ENSG00000174227 HGNC:25985 PIGH gene PIGH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17, OMIM:618010 29603516;29573052 False 3 100;0;0 6.447 False ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PIGK-associated Neurodevelopmental Syndrome 32220290 False 3 100;0;0 6.447 False ENSG00000142892 ENSG00000142892 HGNC:8965 PIGL gene PIGL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZUNICH NEUROECTODERMAL SYNDROME 280000 22444671 False 3 50;50;0 6.447 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PIGN-related multiple congenital anomalies-hypotonia-seizures syndrome, OMIM:614080 33966742;26364997;29330547;35468813;34051595;29096607;26419326;36322149;24852103;35812661;27038415;36363484;26394714;27300081;21493957;33193741;24253414;32585529 False 3 50;50;0 6.447 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2 614749 22683086 False 3 50;50;0 6.447 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PIGP-associated multiple congenital anomalies-hypotonia-seizures syndrome 28334793;31139695;32042915;37125481 False 3 100;0;0 6.447 False ENSG00000185808 ENSG00000185808 HGNC:3046 PIGS gene PIGS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurological Syndrome Fetal Akinesia /Epileptic Encephalopathy 30269814 False 3 50;50;0 6.447 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 615398 23636107;24906948 False 3 50;50;0 6.447 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability, Central Nervous System anomalies and Scoliosis 31353022 False 3 50;50;0 6.447 False ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION 239300 17351347;20802478 False 3 50;50;0 6.447 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGY gene PIGY DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency 26293662 False 3 50;50;0 6.447 False ENSG00000255072 ENSG00000255072 HGNC:28213 PIH1D3 gene PIH1D3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects 28041644;28176794 False 3 50;50;0 6.447 False ENSG00000080572 ENSG00000080572 HGNC:28570 PIK3CA gene PIK3CA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PIK3CA-related overgrowth spectrum disorder with or without megalencephaly, capillary malformation, polymicrogyria and lipomatous overgrowth 22658544;22729224 False 3 50;50;0 6.447 False Other ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3R1 gene PIK3R1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SHORT SYNDROME 269880;AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE 615214 23810379;28472977;23810378;22351933 False 3 50;50;0 6.447 False ENSG00000145675 ENSG00000145675 HGNC:8979 PIK3R2 gene PIK3R2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 603387 26860062;22729224 False 3 50;50;0 6.447 False Other ENSG00000105647 ENSG00000105647 HGNC:8980 PIP5K1C gene PIP5K1C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 3 611369 False 3 50;50;0 6.447 False ENSG00000186111 ENSG00000186111 HGNC:8996 PITX1 gene PITX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL CLUBFOOT 119800;HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS 18950742;22258522 False 3 50;50;0 6.447 False ENSG00000069011 ENSG00000069011 HGNC:9004 PITX2 gene PITX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AXENFELD-RIEGER SYNDROME TYPE 1 180500;PETERS ANOMALY 604229;RING DERMOID OF CORNEA 180550;IRIDOGONIODYSGENESIS TYPE 2 137600 11301317;15591271;11487566;7581385;8944018;22224469;8942889 False 3 50;50;0 6.447 False ENSG00000164093 ENSG00000164093 HGNC:9005 PITX3 gene PITX3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CATARACT AUTOSOMAL DOMINANT 604219;CATARACT POSTERIOR POLAR TYPE 4 610623;ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS 107250 15286169 False 3 50;50;0 6.447 False ENSG00000107859 ENSG00000107859 HGNC:9006 PKD1L1 gene PKD1L1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Laterality defects 27616478;35691949 False 3 50;50;0 6.447 False ENSG00000158683 ENSG00000158683 HGNC:18053 PKDCC gene PKDCC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0032935;PKDCC-related rhizomelic limb shortening with dysmorphic features and short stature;OMIM:618821.0 38860479;37592254;30478137;36896672 False 3 100;0;0 6.447 False ENSG00000162878 ENSG00000162878 HGNC:25123 PKHD1 gene PKHD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE 263200 19021639;12506140;11919560 False 3 50;50;0 6.447 False ENSG00000170927 ENSG00000170927 HGNC:9016 PLA2G6 gene PLA2G6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE NEUROAXONAL DYSTROPHY 1, OMIM:256600 False 3 50;50;0 6.447 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLAA gene PLAA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Lethal Infantile Epileptic Encephalopathy 28413018 False 3 50;50;0 6.447 False ENSG00000137055 ENSG00000137055 HGNC:9043 PLAG1 gene PLAG1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PLAG1-associated Silver Russell Syndrome 33291420;34480472 False 3 100;0;0 6.447 False ENSG00000181690 ENSG00000181690 HGNC:9045 PLCB1 gene PLCB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 613722 20833646 False 3 50;50;0 6.447 False ENSG00000182621 ENSG00000182621 HGNC:15917 PLCB4 gene PLCB4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AURICULOCONDYLAR SYNDROME 602483 False 3 67;33;0 6.447 False ENSG00000101333 ENSG00000101333 HGNC:9059 PLCE1 gene PLCE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHROTIC SYNDROME, TYPE 3 610725 20591883;17086182 False 3 50;50;0 6.447 False ENSG00000138193 ENSG00000138193 HGNC:17175 PLD1 gene PLD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0008913;OMIM:212093.0;PLD1-related cardiac valvular dysplasia 39553471;27799408;33645542;39681445;37770978 False 3 100;0;0 6.447 False ENSG00000075651 ENSG00000075651 HGNC:9067 PLEC gene PLEC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723;EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138 35579050 False 3 50;50;0 6.447 False ENSG00000178209 ENSG00000178209 HGNC:9069 PLK4 gene PLK4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY, GROWTH FAILURE AND RETINOPATHY 616171 25344692 False 3 50;50;0 6.447 False ENSG00000142731 ENSG00000142731 HGNC:11397 PLOD1 gene PLOD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC FORM 225400 8163671;5016372;1345174;9450904 False 3 50;50;0 6.447 False ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BRUCK SYNDROME TYPE 2 609220 35278031;15523624 False 3 50;50;0 6.447 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLP1 gene PLP1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920;LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080 9056547;8723686;1384324;8786077;11071483;7573159;14452137;8659540;7574457;8956049;2773936;1715570;1605230;7683951;1720927;8320699;9489796;17438221;8696336;2480601;3827224;1707231 False 3 50;50;0 6.447 False ENSG00000123560 ENSG00000123560 HGNC:9086 PLPBP gene PLPBP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Vitamin-B6-Dependent Epilepsy 27912044 False 3 50;50;0 6.447 False ENSG00000147471 ENSG00000147471 HGNC:9457 PLS3 gene PLS3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) PLS3-related diaphragmatic hernia and body-wall defects;PLS3-related osteoporosis with fractures, OMIM:300910 24088043;37751738;29736964;25209159;38043102;35752817;24616189;28620780;28777485;28748388 False 3 100;0;0 6.447 False ENSG00000102024 ENSG00000102024 HGNC:9091 PLXNB2 gene PLXNB2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PLXNB2-related hearing loss, amelogenesis imperfecta and intellectual disability 38458752 False 3 100;0;0 6.447 False ENSG00000196576 ENSG00000196576 HGNC:9104 PLXND1 gene PLXND1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MOEBIUS SYNDROME;TRUNCUS ARTERIOSIS 35396997;24254849;26068067 False 3 50;50;0 6.447 False ENSG00000004399 ENSG00000004399 HGNC:9107 PMM2 gene PMM2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 21937992;9887379;10602363;17307006;10527672;9781039;9497260;19235233;9140401;10801058;11916319;10922383 False 3 50;50;0 6.447 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCB gene PMPCB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurodegeneration in Early Childhood 29576218 False 3 50;50;0 6.447 False ENSG00000105819 ENSG00000105819 HGNC:9119 PMS2 gene PMS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MISMATCH REPAIR CANCER SYNDROME 276300 7661930;26318770 False 3 33;33;33 6.447 False ENSG00000122512 ENSG00000122512 HGNC:9122 PNKP gene PNKP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 613402;ATAXIA-OCULOMOTOR APRAXIA 4 616267 20118933;25728773 False 3 50;50;0 6.447 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA1 gene PNPLA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL ICHTHYOSIS False 3 50;50;0 6.447 False ENSG00000180316 ENSG00000180316 HGNC:21246 PNPLA2 gene PNPLA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY 610717 22832386;17187067 False 3 50;50;0 6.447 False ENSG00000177666 ENSG00000177666 HGNC:30802 PNPLA6 gene PNPLA6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PNPLA6-related Disorder 25574898;24355708;25480986 False 3 100;0;0 6.447 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPLA8 gene PNPLA8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PNPLA8-related progressive microcephaly with seizures and neurodegeneration 25512002;34177434;37671596;37057294;39082157;29681094 False 3 100;0;0 6.447 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPO gene PNPO DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PNPO-related neonatal encephalopathy responsive to pyridoxal-5'-phosphate, OMIM:610090 24266778;26108646;24645144;25762494;33981986;24658933;28818555;27014579;26303608;26535729 False 3 100;0;0 6.447 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HEARING LOSS;RESPIRATORY CHAIN DISORDER 614932 23084291 False 3 50;50;0 6.447 False ENSG00000138035 ENSG00000138035 HGNC:23166 POC1A gene POC1A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMORDIAL DWARFISM 615272;SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 614813 26336158;22840363;22440536;22840364 False 3 50;50;0 6.447 False ENSG00000164087 ENSG00000164087 HGNC:24488 POC1B gene POC1B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY 25018096 False 3 50;50;0 6.447 False ENSG00000139323 ENSG00000139323 HGNC:30836 POGZ gene POGZ DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 25533962;30879264;27103995;25694107;26739615;31782611;26763879;31136090;26942287;32103003;27148570;28480548;31347273 False 3 50;50;0 6.447 False ENSG00000143442 ENSG00000143442 HGNC:18801 POLA1 gene POLA1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females VAN ESCH-O'DRISCOLL SYNDROME 301030 31006512 False 3 50;50;0 6.447 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLD1 gene POLD1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM 23770608 False 3 50;50;0 6.447 False ENSG00000062822 ENSG00000062822 HGNC:9175 POLE gene POLE DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IMAGe Syndrome with variable immunodeficiency 30503519;25948378;35860951;23230001 False 3 100;0;0 6.447 False ENSG00000177084 ENSG00000177084 HGNC:9177 POLG gene POLG DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME 4A 203700 32391929;16130100;15122711;15929042 False 3 50;50;0 6.447 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLR1A gene POLR1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE 25913037 False 3 50;50;0 6.447 False ENSG00000068654 ENSG00000068654 HGNC:17264 POLR1C gene POLR1C DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TREACHER COLLINS SYNDROME TYPE 3 248390 21131976;32042905;26151409 False 3 50;50;0 6.447 False ENSG00000171453 ENSG00000171453 HGNC:20194 POLR1D gene POLR1D DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TREACHER COLLINS SYNDROME TYPE 2 613717 21131976 False 3 50;50;0 6.447 False ENSG00000186184 ENSG00000186184 HGNC:20422 POLR2A gene POLR2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNDROMIC INTELLECTUAL DISABILITY 612100 33665635;35461703;31353023 False 3 50;50;0 6.447 False ENSG00000181222 ENSG00000181222 HGNC:9187 POLR3A gene POLR3A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Wiedemann Rautenstrauch Syndrome;LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM 607694 21855841;12605447;22036171;17159124;30414627 False 3 50;50;0 6.447 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autosomal recessive mental retardation;Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism;POLR3B-related neurodevelopmental disorder 21937992;33417887 False 3 50;50;0 6.447 False ENSG00000013503 ENSG00000013503 HGNC:30348 POMGNT1 gene POMGNT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B3 613151;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C3 613157;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A3 (MDDGA3 253280 19299310;12588800;22419172;17878207;15236414;11709191;18195152;19067344 False 3 50;50;0 6.447 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WALKER WARBERG SYNDROME 614830 22958903 False 3 50;50;0 6.447 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 32907597;31833209;24556084;24925318 False 3 100;0;0 6.447 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C1 609308;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B1 613155;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A1 236670 11053679;19299310;11320179;17878207;15037715;14678799;12369018;31311558;22549409;16717220 False 3 50;50;0 6.447 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES TYPE A2 613150;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE TYPE C2 613158;MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH MENTAL RETARDATION TYPE B2 613156 19299310;19138766;17878207;16701995;17634419;17923109;15894594 False 3 50;50;0 6.447 False ENSG00000009830 ENSG00000009830 HGNC:19743 POP1 gene POP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:617396.0;MONDO:0054561;POP1-related anauxetic dysplasia 32134183;28067412;21455487;38351533;27380734 False 3 100;0;0 6.447 False ENSG00000104356 ENSG00000104356 HGNC:30129 PORCN gene PORCN DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) FOCAL DERMAL HYPOPLASIA 305600 18325042;17546031;17546030 False 3 50;50;0 6.447 False ENSG00000102312 ENSG00000102312 HGNC:17652 POU1F1 gene POU1F1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 613038 1509262;12629113;15928241;2634610;9626142;1302000;16968807;8768831;11297581;1472057;7670563 False 3 50;50;0 6.447 False ENSG00000064835 ENSG00000064835 HGNC:9210 POU3F3 gene POU3F3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 616579 31303265 False 3 50;50;0 6.447 False ENSG00000198914 ENSG00000198914 HGNC:9216 POU4F1 gene POU4F1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352 33783914 False 3 100;0;0 6.447 False ENSG00000152192 ENSG00000152192 HGNC:9218 PPA2 gene PPA2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Sudden arrhythmic cardiac death after infectious or alcohol trigger 27523598;27523597;34400813 False 3 50;50;0 6.447 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPFIA3 gene PPFIA3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PPFIA3-related neurodevelopmental disorder 38181735 False 3 100;0;0 6.447 False ENSG00000177380 ENSG00000177380 HGNC:9247 PPFIBP1 gene PPFIBP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PPFIBP1-related neurodevelopmental disorder 30214071;35830857 False 3 100;0;0 6.447 False ENSG00000110841 ENSG00000110841 HGNC:9249 PPIL1 gene PPIL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PPIL1-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 33220177 False 3 100;0;0 6.447 False ENSG00000137168 ENSG00000137168 HGNC:9260 PPM1D gene PPM1D DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PPM1D syndrome 28135719;28343630 False 3 50;50;0 6.447 False ENSG00000170836 ENSG00000170836 HGNC:9277 PPP1CB gene PPP1CB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rasopathy with developmental delay, short stature and sparse slow-growing hair 27264673 False 3 50;50;0 6.447 False ENSG00000213639 ENSG00000213639 HGNC:9282 PPP1R12A gene PPP1R12A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PPP1R12A-related Holoprosencephaly Spectrum and Urogenital Malformations 31883643 False 3 100;0;0 6.447 False ENSG00000058272 ENSG00000058272 HGNC:7618 PPP1R13L gene PPP1R13L DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PPP1R13L-related dilated cardiomyopathy 32666529;28069640 False 3 100;0;0 6.447 False ENSG00000104881 ENSG00000104881 HGNC:18838 PPP1R21 gene PPP1R21 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PPP1R21-related neurodevelopmental disorder 30520571;28940097;29808498;32985083 False 3 100;0;0 6.447 False ENSG00000162869 ENSG00000162869 HGNC:30595 PPP2CA gene PPP2CA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic Intellectual Disability Resembling Other PP2A Related Neurodevelopmental Disorders 30595372 False 3 50;50;0 6.447 False ENSG00000113575 ENSG00000113575 HGNC:9299 PPP2R1A gene PPP2R1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 25533962 False 3 50;50;0 6.447 False Other ENSG00000105568 ENSG00000105568 HGNC:9302 PPP2R5C gene PPP2R5C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PPP2R5C-related neurodevelopmental disorder with macrocephaly and hypotonia, with or without seizures;MONDO:0100038 39978342 False 3 100;0;0 6.447 False Other ENSG00000078304 ENSG00000078304 HGNC:9311 PPP2R5D gene PPP2R5D DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 25972378;36216457;25533962;26576547 False 3 50;50;0 6.447 False Other ENSG00000112640 ENSG00000112640 HGNC:9312 PPP3CA gene PPP3CA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe Neurodevelopmental Disease with Seizures 28942967 False 3 50;50;0 6.447 False ENSG00000138814 ENSG00000138814 HGNC:9314 PPT1 gene PPT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 1 256730 False 3 50;50;0 6.447 False ENSG00000131238 ENSG00000131238 HGNC:9325 PQBP1 gene PQBP1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females RENPENNING S(YNDROME 1 309500 13981686;14634649;3177467;7943045;16493439;16740914 False 3 50;50;0 6.447 False ENSG00000102103 ENSG00000102103 HGNC:9330 PRDM12 gene PRDM12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type VIII OMIM:616488;congenital insensitivity to pain-hypohidrosis syndrome MONDO:0014662 26005867 False 3 50;50;0 6.447 False ENSG00000130711 ENSG00000130711 HGNC:13997 PRDM13 gene PRDM13 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRDM13-related olivopentocerebellar hypoplasia syndrome 35390279 False 3 100;0;0 6.447 False ENSG00000112238 ENSG00000112238 HGNC:13998 PRDX3 gene PRDX3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRDX3-associated cerebellar ataxia 35766882 False 3 100;0;0 6.447 False ENSG00000165672 ENSG00000165672 HGNC:9354 PREPL gene PREPL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOTONIA-CYSTINURIA SYNDROME 606407 24610330 False 3 50;50;0 6.447 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRIM1 gene PRIM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIM1-related Primordial Dwarfism 33060134 False 3 100;0;0 6.447 False ENSG00000198056 ENSG00000198056 HGNC:9369 PRKACA gene PRKACA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PRKACA-related Multiple Congenital Malformation Syndrome 33058759 False 3 100;0;0 6.447 False ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PRKACB-related Multiple Congenital Malformation Syndrome 33058759 False 3 100;0;0 6.447 False ENSG00000142875 ENSG00000142875 HGNC:9381 PRKAR1A gene PRKAR1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACRODYSOSTOSIS 101800 22464250;22464252;21651393 False 3 50;50;0 6.447 False Other ENSG00000108946 ENSG00000108946 HGNC:9388 PRKAR1B gene PRKAR1B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PRKAR1B-related developmental disorder 33057194;33833410 False 3 100;0;0 6.447 False ENSG00000188191 ENSG00000188191 HGNC:9390 PRKD1 gene PRKD1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic congenital heart defects False 3 50;50;0 6.447 False ENSG00000184304 ENSG00000184304 HGNC:9407 PRKG2 gene PRKG2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636 34782440;36504352;33106379 False 3 100;0;0 6.447 False ENSG00000138669 ENSG00000138669 HGNC:9416 PRMT7 gene PRMT7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Pseudohypoparathyroidism-like disorder 26437029 False 3 50;50;0 6.447 False ENSG00000132600 ENSG00000132600 HGNC:25557 PROP1 gene PROP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PROP1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY 262600 False 3 50;50;0 6.447 False ENSG00000175325 ENSG00000175325 HGNC:9455 PRPF19 gene PRPF19 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PRPF19-related neurodevelopmental disorder 37962958 False 3 100;0;0 6.447 False ENSG00000110107 ENSG00000110107 HGNC:17896 PRPF8 gene PRPF8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PRPF8-related developmental disorder (monoallelic) 33057194;35543142;29847639 False 3 100;0;0 6.447 False ENSG00000174231 ENSG00000174231 HGNC:17340 PRPS1 gene PRPS1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females ARTS SYNDROME 301835;PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY 300661;DEAFNESS X-LINKED TYPE 1 304500;CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5 311070 22246954;17701896;8498830;6243137;15240907;7593598;10503584;171280;17701900;8968763;2423135;20021999 False 3 50;50;0 6.447 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRR12 gene PRR12 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual disability and iris abnormalities 29556724;26163108 False 3 50;50;0 6.447 False ENSG00000126464 ENSG00000126464 HGNC:29217 PRRT2 gene PRRT2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION;BENIGN FAMILIAL INFANTILE EPILEPSY AND INFANTILE CONVULSIONS WITH CHOREOATHETOSIS SYNDROME 602066 22543779;21937992;22243967;22744660 False 3 50;50;0 6.447 False ENSG00000167371 ENSG00000167371 HGNC:30500 PRRX1 gene PRRX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AGNATHIA-OTOCEPHALY COMPLEX biallelic;AGNATHIA-OTOCEPHALY COMPLEX monoallelic 23444262;22211708 False 3 50;50;0 6.447 False ENSG00000116132 ENSG00000116132 HGNC:9142 PRSS12 gene PRSS12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 1 249500 12459588 False 3 50;50;0 6.447 False ENSG00000164099 ENSG00000164099 HGNC:9477 PRSS56 gene PRSS56 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA ISOLATED TYPE 6 613517 21397065;19526372 False 3 50;50;0 6.447 False ENSG00000237412 ENSG00000237412 HGNC:39433 PRUNE1 gene PRUNE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PEHO Like condition 28211990;28334956 False 3 50;50;0 6.447 False ENSG00000143363 ENSG00000143363 HGNC:13420 PSAP gene PSAP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ATYPICAL KRABBE DISEASE 611722 15773042 False 3 50;50;0 6.447 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY 610992;NEU-LAXOVA SYNDROME 256520 17436247 False 3 50;50;0 6.447 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSMB8 gene PSMB8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NAKAJO SYNDROME 256040 21881205;21953331;21852578;21129723 False 3 50;50;0 6.447 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMC3 gene PSMC3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMC3-related neurodevelopmental disorder 37256937 False 3 100;0;0 6.447 False ENSG00000165916 ENSG00000165916 HGNC:9549 PSMC5 gene PSMC5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMC5-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000087191 ENSG00000087191 HGNC:9552 PSPH gene PSPH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PHOSPHOSERINE PHOSPHATASE DEFICIENCY 614023;NEU-LAXOVA 256520 25152457;14673469;9222972 False 3 50;50;0 6.447 False ENSG00000146733 ENSG00000146733 HGNC:9577 PTCH1 gene PTCH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BASAL CELL NEVUS SYNDROME 109400;HOLOPROSENCEPHALY-7 610828 8658145;11941477;8681379;17001668;22572734;12900905 False 3 50;50;0 6.447 False ENSG00000185920 ENSG00000185920 HGNC:9585 PTCHD1 gene PTCHD1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females AUTISM/ID 300830 20844286 False 3 50;50;0 6.447 False ENSG00000165186 ENSG00000165186 HGNC:26392 PTDSS1 gene PTDSS1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM 151050 35224839;24241535 False 3 50;50;0 6.447 False ENSG00000156471 ENSG00000156471 HGNC:9587 PTEN gene PTEN DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BANNAYAN-ZONANA SYNDROME 153480;COWDEN DISEASE 158350;MACROCEPHALY/AUTISM SYNDROME 605309;VACTERL ASSOCIATION WITH HYDROCEPHALUS 276950;PROTEUS SYNDROME 176920;LHERMITTE-DUCLOS DISEASE 158350 9241266;9467011;9259288;17286265;11476841;9425889;9140396;9832031;10051160;16704655;12844284;15805158;12471211;10353779;10777358;23160955;11238682;9832032 False 3 50;50;0 6.447 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTF1A gene PTF1A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DIABETES MELLITUS, PERMANENT NEONATAL, WITH CEREBELLAR AGENESIS 609069;PANCREATIC AGENESIS 15543146;21749365;10507728;24212882 False 3 50;50;0 6.447 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTH gene PTH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FAMILIAL ISOLATED HYPOPARATHYROIDISM 146200 3005800;1302009;10523031;2212001 False 3 50;50;0 6.447 False ENSG00000152266 ENSG00000152266 HGNC:9606 PTH1R gene PTH1R DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal JANSEN METAPHYSEAL CHONDRODYSPLASIA 156400;EIKEN SKELETAL DYSPLASIA 600002;PRIMARY FAILURE OF TOOTH ERUPTION 125350;CHONDRODYSPLASIA BLOMSTRAND TYPE 215045 9745456;8703170;15240651;17164305;3975110;7701349;10487664;15525660;10523019;19061984;9649554 False 3 50;50;0 6.447 False ENSG00000160801 ENSG00000160801 HGNC:9608 PTHLH gene PTHLH DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRACHYDACTYLY, TYPE E2 613382;CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS 20170896 False 3 50;50;0 6.447 False ENSG00000087494 ENSG00000087494 HGNC:9607 PTPN11 gene PTPN11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEOPARD SYNDROME TYPE 1 151100;NOONAN SYNDROME 1 163950 19659470;15520399;21910226;15384080;24820750;16733669;12325025;19864201;22822385;19768645;19054014;11992261;23799168;15240615;27484170;11704759;24790373;26377839;25884655;25917897;17875892;12529711;12161469;21365175;19449407;21747628;21677813;17927788 False 3 50;50;0 6.447 False ENSG00000179295 ENSG00000179295 HGNC:9644 PTPN14 gene PTPN14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHOANAL ATRESIA AND LYMPHEDEMA 613611 20826270 False 3 50;50;0 6.447 False ENSG00000152104 ENSG00000152104 HGNC:9647 PTRH2 gene PTRH2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET, OMIM:616263 31057140;27129381;25574476;25558065;28328138 False 3 100;0;0 6.447 False ENSG00000141378 ENSG00000141378 HGNC:24265 PTS gene PTS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 6-PYRUVOYLTETRAHYDROPTERIN SYNTHASE DEFICIENCY 261640 10220141;8178819;9450907 False 3 50;50;0 6.447 False ENSG00000150787 ENSG00000150787 HGNC:9689 PUF60 gene PUF60 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PUF60 syndrome 24140112;28327570;27804958 False 3 100;0;0 6.447 False ENSG00000179950 ENSG00000179950 HGNC:17042 PURA gene PURA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 31911028;29150892;25342064;29097605;32089526;29307761;27148565;25439098 False 3 50;50;0 6.447 False ENSG00000185129 ENSG00000185129 HGNC:9701 PUS1 gene PUS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462 32287105;30588737;17056637;26556812;25227147 False 3 100;0;0 6.447 False ENSG00000177192 ENSG00000177192 HGNC:15508 PUS3 gene PUS3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PUS3-associated neurodevelopmental disorder with microcephaly and gray sclerae 30697592;32056211;34415064;31444731;30308082;27055666 False 3 100;0;0 6.447 False ENSG00000110060 ENSG00000110060 HGNC:25461 PUS7 gene PUS7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability with Speech Delay Microcephaly Short Stature and Aggressive Behavior 30526862 False 3 50;50;0 6.447 False ENSG00000091127 ENSG00000091127 HGNC:26033 PXDN gene PXDN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA 21907015 False 3 50;50;0 6.447 False ENSG00000130508 ENSG00000130508 HGNC:14966 PYCR1 gene PYCR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB 612940 19648921;18304158;11424136;19576563;18348262;16045708 False 3 50;50;0 6.447 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYCR2 gene PYCR2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME 25865492 False 3 50;50;0 6.447 False ENSG00000143811 ENSG00000143811 HGNC:30262 PYGL gene PYGL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GLYCOGEN STORAGE DISEASE TYPE VI 232700 9529348;9536091 False 3 50;50;0 6.447 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYROXD1 gene PYROXD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization 27745833 False 3 50;50;0 6.447 False ENSG00000121350 ENSG00000121350 HGNC:26162 QARS gene QARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY 615760 24656866 False 3 50;50;0 6.447 False ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BH4-DEFICIENT HYPERPHENYLALANINEMIA C 261630 8326489;2116088;11153907;9744478;9341885 False 3 50;50;0 6.447 False ENSG00000151552 ENSG00000151552 HGNC:9752 QRICH1 gene QRICH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown QRICH1 syndrome 28692176 False 3 50;50;0 6.447 False ENSG00000198218 ENSG00000198218 HGNC:24713 RAB11A gene RAB11A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability 29100083 False 3 67;33;0 6.447 False ENSG00000103769 ENSG00000103769 HGNC:9760 RAB11B gene RAB11B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 29106825 False 3 50;50;0 6.447 False ENSG00000185236 ENSG00000185236 HGNC:9761 RAB14 gene RAB14 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RAB14-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000119396 ENSG00000119396 HGNC:16524 RAB18 gene RAB18 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WARBURG MICRO SYNDROME TYPE 3 614222 29300443;26063829;21473985 False 3 50;50;0 6.447 False ENSG00000099246 ENSG00000099246 HGNC:14244 RAB1A gene RAB1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RAB1A-related neurodevelopmental disorder with speech and motor delay and spasticity 37924809;38091987 False 3 100;0;0 6.447 False ENSG00000138069 ENSG00000138069 HGNC:9758 RAB23 gene RAB23 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACROCEPHALOPOLYSYNDACTYLY TYPE 2 201000 17503333;20358613 False 3 50;50;0 6.447 False ENSG00000112210 ENSG00000112210 HGNC:14263 RAB34 gene RAB34 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RAB34-related orofaciodigital syndrome 37619988;37384395 False 3 100;0;0 6.447 False ENSG00000109113 ENSG00000109113 HGNC:16519 RAB39B gene RAB39B DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS 300271 20159109;25434005;11050621 False 3 50;50;0 6.447 False ENSG00000155961 ENSG00000155961 HGNC:16499 RAB3GAP1 gene RAB3GAP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WARBURG MICRO SYNDROME TYPE 1 600118 15216543;29675078;10465117;20512159;15696165 False 3 50;50;0 6.447 False ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MARTSOLF SYNDROME 212720 16532399;29419336 False 3 50;50;0 6.447 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAB5C gene RAB5C DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RAB5C-related neurodevelopmental disorder 37552066 False 3 100;0;0 6.447 False Other ENSG00000108774 ENSG00000108774 HGNC:9785 RABGAP1 gene RABGAP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RABGAP1-related neurodevelopmental disorder with microcephaly and sensorineural hearing loss 36083289 False 3 100;0;0 6.447 False ENSG00000011454 ENSG00000011454 HGNC:17155 RAC1 gene RAC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental Disorders with Diverse Phenotypes 35139179;28886345 False 3 50;50;0 6.447 False ENSG00000136238 ENSG00000136238 HGNC:9801 RAC3 gene RAC3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopment disorder 30293988 False 3 50;50;0 6.447 False ENSG00000169750 ENSG00000169750 HGNC:9803 RAD21 gene RAD21 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COHESINOPATHY 614701 27882533;30716475;22633399;32193685;24378232;30125677 False 3 50;50;0 6.447 False ENSG00000164754 ENSG00000164754 HGNC:9811 RAD51C gene RAD51C DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP 0 613390 20400963 False 3 50;50;0 6.447 False ENSG00000108384 ENSG00000108384 HGNC:9820 RAF1 gene RAF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME 5 611553 17603483 False 3 50;50;0 6.447 False Other ENSG00000132155 ENSG00000132155 HGNC:9829 RAI1 gene RAI1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMITH-MAGENIS SYNDROME 182290 False 3 50;50;0 6.447 False ENSG00000108557 ENSG00000108557 HGNC:9834 RALA gene RALA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RALA-related Neurodevelopmental Syndrome 30500825 False 3 100;0;0 6.447 False ENSG00000006451 ENSG00000006451 HGNC:9839 RALGAPA1 gene RALGAPA1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RALGAPA1-related neurodevelopmental disorder 32004447 False 3 100;0;0 6.447 False ENSG00000174373 ENSG00000174373 HGNC:17770 RAPSN gene RAPSN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL MYASTHENIC SYNDROME WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 608931;FETAL AKINESIA DEFORMATION SEQUENCE 208150 11791205;18179903 False 3 50;50;0 6.447 False ENSG00000165917 ENSG00000165917 HGNC:9863 RARB gene RARB DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal MICROPHTHALMIA AND DIAPHRAGMATIC HERNIA 27120018;24075189 False 3 50;50;0 6.447 False ENSG00000077092 ENSG00000077092 HGNC:9865 RARS gene RARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RARS1 related hypomyelinating leukodystrophy 28905880;31814314 False 3 100;0;0 6.447 False ENSG00000113643 ENSG00000113643 HGNC:9870 RARS2 gene RARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 6 318922 34085948 False 3 50;50;0 6.447 False ENSG00000146282 ENSG00000146282 HGNC:21406 RAX gene RAX DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA ISOLATED TYPE 3 611038 18783408;14662654 False 3 50;50;0 6.447 False ENSG00000134438 ENSG00000134438 HGNC:18662 RBBP5 gene RBBP5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RBBP5-related neurodevelopmental disorder 39036895 False 3 100;0;0 6.447 False ENSG00000117222 ENSG00000117222 HGNC:9888 RBBP8 gene RBBP8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RBBP8-related microcephaly and intellectual disability, OMIM:251255 26333564;34270086;21998596 False 3 100;0;0 6.447 False ENSG00000101773 ENSG00000101773 HGNC:9891 RBCK1 gene RBCK1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency;MONDO:0014389;OMIM:615895.0 35017290;38077957;38329383;38588043;38922716;32187699;23798481 False 3 100;0;0 6.447 False ENSG00000125826 ENSG00000125826 HGNC:15864 RBM10 gene RBM10 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females TARP SYNDROME 311900 20451169;5410571;30189253;30450804;35645043 False 3 50;50;0 6.447 False ENSG00000182872 ENSG00000182872 HGNC:9896 RBM8A gene RBM8A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME 274000 22366785 False 3 50;50;0 6.447 False ENSG00000131795 ENSG00000265241 HGNC:9905 RBPJ gene RBPJ DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ADAMS OLIVER SYNDROME 22883147 False 3 50;50;0 6.447 False ENSG00000168214 ENSG00000168214 HGNC:5724 RCC1 gene RCC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RCC1-related infection-induced acute-onset axonal neuropathy with cerebral and cerebellar atrophy 40683276 False 3 100;0;0 6.447 False ENSG00000180198 ENSG00000180198 HGNC:1913 RECQL4 gene RECQL4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RAPADILINO SYNDROME 266280;BALLER-GEROLD SYNDROME 218600;ROTHMUND-THOMSON SYNDROME 268400 11754069;12952869;12734318;15964893;10319867;20503338;12838562;9878247;10678659;9934984 False 3 50;50;0 6.447 False ENSG00000160957 ENSG00000160957 HGNC:9949 RELN gene RELN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LISSENCEPHALY 2 319306 False 3 50;50;0 6.447 False ENSG00000189056 ENSG00000189056 HGNC:9957 RERE gene RERE DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenocopy of Proximal 1p36 Deletions 27087320 False 3 50;50;0 6.447 False ENSG00000142599 ENSG00000142599 HGNC:9965 REST gene REST DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown REST-related gingival fibromatosis and sensorineural hearing loss 36509837 False 3 100;0;0 6.447 False ENSG00000084093 ENSG00000084093 HGNC:9966 RET gene RET DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RENAL AGENESIS 191830;MULTIPLE ENDOCRINE NEOPLASIA IIB 162300 11788682 False 3 50;50;0 6.447 False Other ENSG00000165731 ENSG00000165731 HGNC:9967 RETREG1 gene RETREG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB 613115 19838196 False 3 50;50;0 6.447 False ENSG00000154153 ENSG00000154153 HGNC:25964 RFT1 gene RFT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1N 612015 18313027 False 3 50;50;0 6.447 False ENSG00000163933 ENSG00000163933 HGNC:30220 RFX3 gene RFX3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RFX3-related neurodevelopmental disorder with autism and other behavioural abnormalities;complex neurodevelopmental disorder, MONDO:0100038 27525107;37717291;33658631;21792059;35982159;25844147;31981491 False 3 100;0;0 6.447 False ENSG00000080298 ENSG00000080298 HGNC:9984 RFX4 gene RFX4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown complex neurodevelopmental disorder, MONDO:0100038;RFX4-related neurodevelopmental disorder with autism and other behavioural abnormalities 33658631;25961944 False 3 100;0;0 6.447 False ENSG00000111783 ENSG00000111783 HGNC:9985 RFX6 gene RFX6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MARTINEZ-FRIAS SYNDROME 601346 15592663;19887127;18512226;20148032 False 3 50;50;0 6.447 False ENSG00000185002 ENSG00000185002 HGNC:21478 RFX7 gene RFX7 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RFX7-related neurodevelopmental disorder with autism and other behavioural abnormalities;MONDO:0957228;OMIM:620330.0 39007708;25961944;25363760;33584783;33658631;36334883 False 3 100;0;0 6.447 False ENSG00000181827 ENSG00000181827 HGNC:25777 RHOBTB2 gene RHOBTB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and Epileptic Encephalopathy 29276004 False 3 50;50;0 6.447 False ENSG00000008853 ENSG00000008853 HGNC:18756 RIMS2 gene RIMS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RIMS2 Syndromic Congenital Cone-Rod Synaptic Disease 32470375 False 3 100;0;0 6.447 False ENSG00000176406 ENSG00000176406 HGNC:17283 RIN2 gene RIN2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS 19631308 False 3 50;50;0 6.447 False ENSG00000132669 ENSG00000132669 HGNC:18750 RINT1 gene RINT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities 31204009 False 3 50;50;0 6.447 False ENSG00000135249 ENSG00000135249 HGNC:21876 RIPK4 gene RIPK4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 263650 15264293;22197488 False 3 50;50;0 6.447 False ENSG00000183421 ENSG00000183421 HGNC:496 RIT1 gene RIT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME 8 615355 23791108 False 3 50;50;0 6.447 False Other ENSG00000143622 ENSG00000143622 HGNC:10023 RLIM gene RLIM DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 25644381 False 3 50;50;0 6.447 False ENSG00000131263 ENSG00000131263 HGNC:13429 RMND1 gene RMND1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT 614922 23022099 False 3 50;50;0 6.447 False ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CARTILAGE-HAIR HYPOPLASIA 250250 False 3 33;67;0 6.447 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 4 610333 15870678 False 3 50;50;0 6.447 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 2 610181 16845400 False 3 50;50;0 6.447 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 3 610329 16845400 False 3 50;50;0 6.447 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951 19525954 False 3 50;50;0 6.447 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF13 gene RNF13 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital Microcephaly Epileptic Encephalopathy Blindness and Failure to Thrive 30595371 False 3 50;50;0 6.447 False Other ENSG00000082996 ENSG00000082996 HGNC:10057 RNH1 gene RNH1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RNH1-related susceptibility to infection-related encephalopathy 36935417;37191094 False 3 100;0;0 6.447 False ENSG00000023191 ENSG00000023191 HGNC:10074 RNPC3 gene RNPC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RNPC3-associated growth hormone deficiency and short stature, OMIM:618160 35792517;29866761;32462814;24480542;33650182 False 3 100;0;0 6.447 False ENSG00000185946 ENSG00000185946 HGNC:18666 RNU2-2P gene RNU2-2P DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RNU2-2-related neurodevelopmental disorder with seizures and hyperventilation;complex neurodevelopmental disorder, MONDO:0100038;Developmental and epileptic encephalopathy 119, OMIM:621304 40442284;40210679 False 3 100;0;0 6.447 False ENSG00000222328 ENSG00000222328 HGNC:10152 RNU4-2 gene RNU4-2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RNU4-2 related neurodevelopmental disorder with microcephaly and seizures 38821540;38991538 False 3 100;0;0 6.447 False ENSG00000202538 ENSG00000202538 HGNC:10193 RNU4ATAC gene RNU4ATAC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710 22581640;21474761;21474760;17666473 False 3 50;50;0 6.447 False ENSG00000264229 ENSG00000264229 HGNC:34016 RNU5B-1 gene RNU5B-1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RNU5B-1-related neurodevelopmental disorder with abnormal brain imaging and congenital anomalies 40442284;40379786 False 3 100;0;0 6.447 False ENSG00000200156 ENSG00000200156 HGNC:10212 ROBO1 gene ROBO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0957210;ROBO1-related neurooculorenal syndrome;OMIM:620305.0 29194579;35227688;30692597;28286008 False 3 100;0;0 6.447 False ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO3 gene ROBO3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FAMILIAL HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS 607313 16525029;15105459 False 3 50;50;0 6.447 False ENSG00000154134 ENSG00000154134 HGNC:13433 ROBO4 gene ROBO4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bicuspid Aortic Valve and Aortic Aneurysm 618496 30455415 False 3 50;50;0 6.447 False ENSG00000154133 ENSG00000154133 HGNC:17985 ROGDI gene ROGDI DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KOHLSCH TTER-T NZ SYNDROME 226750 3236364;7625549;16411202;22482807;8133980;22424600 False 3 50;50;0 6.447 False ENSG00000067836 ENSG00000067836 HGNC:29478 ROR2 gene ROR2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brachydactyly, type B1, OMIM:113000 (AD);Robinow syndrome, autosomal recessive, OMIM:268310 (AR) 35344616;15952209;10932186;10932187;10986040;19640924;18831060;10700182;19461659;19533773 False 3 50;50;0 6.447 False ENSG00000169071 ENSG00000169071 HGNC:10257 RORA gene RORA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 29656859 False 3 50;50;0 6.447 False ENSG00000069667 ENSG00000069667 HGNC:10258 RORB gene RORB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RORB-epilepsy and neurodevelopmental disorder, OMIM:618357;epilepsy, idiopathic generalized, susceptibility to, 15, MONDO:0032699 27352968;32162308;33387058 False 3 100;0;0 6.447 False ENSG00000198963 ENSG00000198963 HGNC:10259 RPE65 gene RPE65 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 608553 9326927 False 3 50;50;0 6.447 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGRIP1 gene RPGRIP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEBER CONGENITAL AMAUROSIS 6 613826;CONE-ROD DYSTROPHY 13 608194 12920076;11283794;11528500 False 3 33;33;33 6.447 False ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MECKEL SYNDROME TYPE 5 611561;JOUBERT SYNDROME TYPE 7 611560;COACH SYNDROME 216360 17558409;17558407;18565097;19574260 False 3 50;50;0 6.447 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPL10 gene RPL10 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 35, OMIM:300998 25846674;29066376;35876338;25316788;26290468 False 3 100;0;0 6.447 False ENSG00000147403 ENSG00000147403 HGNC:10298 RPL11 gene RPL11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anemia with cleft palate and abnormal thumbs 19191325;19061985;19773262 False 3 50;50;0 6.447 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL26 gene RPL26 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 22431104 False 3 100;0;0 6.447 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPS19 gene RPS19 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPS19-RELATED DIAMOND-BLACKFAN ANEMIA 220176 False 3 50;50;0 6.447 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS23 gene RPS23 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Microcephaly, hearing loss, and dysmorphic features 28257692 False 3 50;50;0 6.447 False ENSG00000186468 ENSG00000186468 HGNC:10410 RPS26 gene RPS26 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DIAMOND-BLACKFAN ANEMIA 10, OMIM:613309 24942156;24675553;25946618;31277601;20116044 False 3 100;0;0 6.447 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS6KA3 gene RPS6KA3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Coffin-Lowry Syndrome 2 RPS6KA3 XLD;Coffin-Lowry Syndrome 2 RPS6KA3 XLR 17717706;10094187;12439904;8955270;9887375;9837815;12558110;10528858;15214012;14986828;11992250 False 3 50;50;0 6.447 False ENSG00000177189 ENSG00000177189 HGNC:10432 RPS6KC1 gene RPS6KC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RPS6KC1-related complex neurodevelopmental disorder with spasticity and hypoplasia of corpus callosum;MONDO:0100038 41130203 False 3 100;0;0 6.447 False ENSG00000136643 ENSG00000136643 HGNC:10439 RRAGC gene RRAGC DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RRAGC-related congenital dilated cardiomyopathy with hyperlactatemia, deranged liver function and cataracts 37057673;27234373 False 3 100;0;0 6.447 False Other ENSG00000116954 ENSG00000116954 HGNC:19902 RRAS gene RRAS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATYPICAL NOONAN SYNDROME 24705357 False 3 33;67;0 6.447 False Other ENSG00000126458 ENSG00000126458 HGNC:10447 RRAS2 gene RRAS2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 31130282;31130285;24705357 False 3 50;50;0 6.447 False Other ENSG00000133818 ENSG00000133818 HGNC:17271 RRM2B gene RRM2B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mitochondrial depletion syndrome 23107649;19616983;28482374;23968935;17486094 False 3 50;50;0 6.447 False ENSG00000048392 ENSG00000048392 HGNC:17296 RSPH1 gene RSPH1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX AND RADIAL-SPOKE DEFECTS 23993197 False 3 50;50;0 6.447 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA WITH CENTRAL-COMPLEX DEFECTS 26073779 False 3 50;50;0 6.447 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPO2 gene RSPO2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Tetra-amelia with lung agenesis 29769720 False 3 50;50;0 6.447 False ENSG00000147655 ENSG00000147655 HGNC:28583 RSPO4 gene RSPO4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ANONYCHIA CONGENITA 206800 17186469;18070203;17041604;17914448;4702713 False 3 50;50;0 6.447 False ENSG00000101282 ENSG00000101282 HGNC:16175 RSPRY1 gene RSPRY1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA 26365341 False 3 50;50;0 6.447 False ENSG00000159579 ENSG00000159579 HGNC:29420 RSRC1 gene RSRC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 29522154;32227164;28640246 False 3 100;0;0 6.447 False ENSG00000174891 ENSG00000174891 HGNC:24152 RTEL1 gene RTEL1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 615190;DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 615190 23453664 False 3 50;50;0 6.447 False ENSG00000258366 ENSG00000258366 HGNC:15888 RTN4IP1 gene RTN4IP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EARLY-ONSET RECESSIVE OPTIC NEUROPATHY 26593267 False 3 50;50;0 6.447 False ENSG00000130347 ENSG00000130347 HGNC:18647 RTTN gene RTTN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BILATERAL DIFFUSE POLYMICROGYRIA 614833 26608784;22939636;29883675 False 3 50;50;0 6.447 False ENSG00000176225 ENSG00000176225 HGNC:18654 RUNX2 gene RUNX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLEIDOCRANIAL DYSPLASIA 119600 9207800;12081718;12424590;9182765;10545612;15952089;10521292 False 3 50;50;0 6.447 False ENSG00000124813 ENSG00000124813 HGNC:10472 RYBP gene RYBP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RYBP-related neurodevelopmental disorder with congenital anomalies;complex neurodevelopmental disorder, MONDO:0100038 39891528 False 3 100;0;0 6.447 False ENSG00000163602 ENSG00000163602 HGNC:10480 RYR1 gene RYR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 255320 20839240 False 3 50;50;0 6.447 False ENSG00000196218 ENSG00000196218 HGNC:10483 SACS gene SACS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550 10655055 False 3 50;50;0 6.447 False ENSG00000151835 ENSG00000151835 HGNC:10519 SALL1 gene SALL1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TOWNES-BROCKS SYNDROME 107480 18000979;10533063;9973281;14755477;17431915;11484202;10928856;9425907 False 3 50;50;0 6.447 False ENSG00000103449 ENSG00000103449 HGNC:10524 SALL4 gene SALL4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACRO-RENAL-OCULAR SYNDROME 607323;DUANE-RADIAL RAY SYNDROME 607323 17256792;12395297;26791099;12393809 False 3 50;50;0 6.447 False ENSG00000101115 ENSG00000101115 HGNC:15924 SAMD9 gene SAMD9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE - myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, enteropathy 28346228;27182967 False 3 100;0;0 6.447 False Other ENSG00000205413 ENSG00000205413 HGNC:1348 SAMHD1 gene SAMHD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 239588 False 3 50;50;0 6.447 False ENSG00000101347 ENSG00000101347 HGNC:15925 SARS gene SARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SARS1-related neurodevelopmental disorder with microcephaly, ataxia, and seizures, OMIM:617709;Autosomal dominant SARS1-related neurodevelopmental disorder 28236339;34570399;36041817 False 3 100;0;0 6.447 False ENSG00000031698 ENSG00000031698 HGNC:10537 SARS2 gene SARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SARS2-related hyperuricemia, pulmonary hypertension, renal failure and alkalosis, OMIM:613845 21255763;33751860;24034276 False 3 100;0;0 6.447 False ENSG00000104835 ENSG00000104835 HGNC:17697 SART3 gene SART3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SART3-related neurodevelopmental disorder with 46,XY gonadal dysgenesis (INDYGON) 37296101 False 3 100;0;0 6.447 False Other ENSG00000075856 ENSG00000075856 HGNC:16860 SASS6 gene SASS6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SASS6-related severe microcephaly with brain abnormalities 38501757;24951542;30639237;36739862 False 3 100;0;0 6.447 False ENSG00000156876 ENSG00000156876 HGNC:25403 SATB1 gene SATB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SATB1-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000182568 ENSG00000182568 HGNC:10541 SATB2 gene SATB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NONSPECIFIC SEVERE ID;CLEFT PALATE ISOLATED 119540;SYNDROMAL PIERRE ROBIN SEQUENCE 30848049;31392730;31021519;30575289;17377962;31333717;28151491;29739092;35838081;29436146;28211976;28139846;26596517;28787087;31420882;24363063;30648748;25885067;24301056;27774744 False 3 50;50;0 6.447 False ENSG00000119042 ENSG00000119042 HGNC:21637 SBDS gene SBDS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SHWACHMAN-DIAMOND SYNDROME 607444 False 3 50;50;0 6.447 False ENSG00000126524 ENSG00000126524 HGNC:19440 SC5D gene SC5D DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LATHOSTEROLOSIS 607330 12189593;12812989 False 3 50;50;0 6.447 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCAF4 gene SCAF4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SCAF4-related Neurodevelopmental Disorder 32730804 False 3 100;0;0 6.447 False ENSG00000156304 ENSG00000156304 HGNC:19304 SCAPER gene SCAPER DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 3 50;50;0 6.447 False ENSG00000140386 ENSG00000140386 HGNC:13081 SCARF2 gene SCARF2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal VAN DEN ENDE-GUPTA SYNDROME 600920 21108395 False 3 50;50;0 6.447 False ENSG00000244486 ENSG00000244486 HGNC:19869 SCN11A gene SCN11A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL INABILITY TO EXPERIENCE PAIN;EPISODIC PAIN SYNDROME, FAMILIAL, OMIM:615552 24036948 False 3 50;50;0 6.447 False Other ENSG00000168356 ENSG00000168356 HGNC:10583 SCN1A gene SCN1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SCN1A-RELATED SEIZURE DISORDERS 607208 16505326;18680191;12566275;11359211;21555645;21753172;17000989 False 3 50;50;0 6.447 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1 604233;BRUGADA SYNDROME 5 612838 17020904;9697698;12011299;18464934 False 3 50;50;0 6.447 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NONSPECIFIC SEVERE ID;BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968;INFANTILE EPILEPTIC ENCEPHALOPATHY 25457084;26291284;31966371;24579881;31439038;31204721;28489313;28379373;19783390;30062040;16417554;24814476;28254201;15028761;26311622;17386050;23550958;22591750;19786696;23988467;24710820;24659627;30144217;30203812;25459969;29635106;23935176;28709814;23827426;27781028;25772804;29625812 False 3 50;50;0 6.447 False ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal epilepsy 18242854;24157691 False 3 50;50;0 6.447 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN4A gene SCN4A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOKALEMIC PERIODIC PARALYSIS 613345;PARAMYOTONIA CONGENITA OF VON EULENBURG 168300;HYPERKALEMIC PERIODIC PARALYSIS TYPE 1 170500 1310898;1316765;10599760;10851391;16890191;1338909;8388676;17998485;1659668;19015492;8580427;11591859;10369308;15596759;18203179;1659948;19015483;10944223 False 3 50;50;0 6.447 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN8A gene SCN8A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558 22365152;16236810 False 3 50;50;0 6.447 False Other ENSG00000196876 ENSG00000196876 HGNC:10596 SCO1 gene SCO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 3 50;50;0 6.447 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 10749987;14994243;10545952;18924171 False 3 50;50;0 6.447 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCUBE3 gene SCUBE3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SCUBE3-related developmental disorder 33308444 False 3 100;0;0 6.447 False ENSG00000146197 ENSG00000146197 HGNC:13655 SCYL1 gene SCYL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia 26581903 False 3 50;50;0 6.447 False ENSG00000142186 ENSG00000142186 HGNC:14372 SDCCAG8 gene SDCCAG8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME 7 613615 20835237;22626039 False 3 50;50;0 6.447 False ENSG00000054282 ENSG00000054282 HGNC:10671 SDHA gene SDHA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME 256000 False 3 50;50;0 6.447 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX II DEFICIENCY 252011 False 3 50;50;0 6.447 False ENSG00000205138 ENSG00000205138 HGNC:33867 SEC23B gene SEC23B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II 224100 19621418;19561605 False 3 50;50;0 6.447 False ENSG00000101310 ENSG00000101310 HGNC:10702 SEC24D gene SEC24D DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SYNDROMIC OSTEOGENESIS IMPERFECTA 25683121 False 3 50;50;0 6.447 False ENSG00000150961 ENSG00000150961 HGNC:10706 SECISBP2 gene SECISBP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal THYROID HORMONE METABOLISM, ABNORMAL 609698 16228000 False 3 50;50;0 6.447 False ENSG00000187742 ENSG00000187742 HGNC:30972 SELENOI gene SELENOI DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPT1-related complex progressive hereditary spastic paraplegia 29500230;28052917 False 3 50;50;0 6.447 False ENSG00000138018 ENSG00000138018 HGNC:29361 SELENON gene SELENON DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SELENON-related myopathy 26841830;15792869;12192640;28558865;30642275;23394784;20937510;32154989;26780752;29850975;11528383;15668457;16498447;28688748;29172004;31066047;21670436;28606403;15961312;25808192;17951086 False 3 100;0;0 6.447 False ENSG00000162430 ENSG00000162430 HGNC:15999 SEMA3A gene SEMA3A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEMA3A-related skeletal dysplasia 24124006;33369061;28075028 False 3 100;0;0 6.447 False ENSG00000075213 ENSG00000075213 HGNC:10723 SEMA6B gene SEMA6B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SEMA6B-related neurodevelopmental disorder 34110594;34017830;33798445;32169168;34218423;35604360;34092044 False 3 100;0;0 6.447 False ENSG00000167680 ENSG00000167680 HGNC:10739 SEPHS1 gene SEPHS1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown neurodevelopmental disorder, MONDO:0700092;SEPHS1-related neurodevelopmental disorder 38531365 False 3 100;0;0 6.447 False Other ENSG00000086475 ENSG00000086475 HGNC:19685 SEPSECS gene SEPSECS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D 26805434;29464431;26888482 False 3 50;50;0 6.447 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 32346411;27186703;28505671;27331002;28778788;28916646;34326751;23707711;29205472;31251474;33613893 False 3 100;0;0 6.447 False ENSG00000122335 ENSG00000122335 HGNC:21061 SET gene SET DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SET syndrome 35122673;29688601;28135719;29907757 False 3 50;50;0 6.447 False ENSG00000119335 ENSG00000119335 HGNC:10760 SETBP1 gene SETBP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY;SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150 20436468 False 3 50;50;0 6.447 False ENSG00000152217 ENSG00000152217 HGNC:15573 SETD1A gene SETD1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 3 50;50;0 6.447 False ENSG00000099381 ENSG00000099381 HGNC:29010 SETD1B gene SETD1B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SETD1B associated intellectual disability, epilepsy and autism 32546566;29322246 False 3 50;50;0 6.447 False ENSG00000139718 ENSG00000139718 HGNC:29187 SETD2 gene SETD2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SETD2-associated Overgrowth Syndrome 34978780;27317772;32710489;24852293 False 3 50;50;0 6.447 False ENSG00000181555 ENSG00000181555 HGNC:18420 SETD5 gene SETD5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 615761 31656537;27375234;28881385;24680889;28905509;25138099;28549204 False 3 50;50;0 6.447 False ENSG00000168137 ENSG00000168137 HGNC:25566 SF1 gene SF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown neurodevelopmental disorder, MONDO:0700092;SF1-related neurodevelopmental disorder 40987292 False 3 100;0;0 6.447 False ENSG00000168066 ENSG00000168066 HGNC:12950 SF3B4 gene SF3B4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROFACIAL DYSOSTOSIS 1, NAGER TYPE 154400 22541558 False 3 50;50;0 6.447 False ENSG00000143368 ENSG00000143368 HGNC:10771 SGSH gene SGSH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 3A 252900 False 3 50;50;0 6.447 False ENSG00000181523 ENSG00000181523 HGNC:10818 SH3PXD2B gene SH3PXD2B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FRANK-TER HAAR SYNDROME 249420 20137777;7158646;15523657 False 3 50;50;0 6.447 False ENSG00000174705 ENSG00000174705 HGNC:29242 SHANK1 gene SHANK1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 False 3 50;50;0 6.447 False ENSG00000161681 ENSG00000161681 HGNC:15474 SHANK2 gene SHANK2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUSCEPTIBILITY TO AUTISM TYPE 17 613436 20473310 False 3 50;50;0 6.447 False ENSG00000162105 ENSG00000162105 HGNC:14295 SHANK3 gene SHANK3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PHELAN-MCDERMID SYNDROME 606232 17173049;22892527 False 3 50;50;0 6.447 False ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 5 611638;TRIPHALANGEAL THUMB-POLYSYNDACTYLY SYNDROME 174500;SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 147250;HOLOPROSENCEPHALY TYPE 3 236100 12503095;11471164;15103725;12567406 False 3 50;50;0 6.447 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHMT2 gene SHMT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SHMT2-related neurodevelopmental syndrome 33015733 False 3 100;0;0 6.447 False ENSG00000182199 ENSG00000182199 HGNC:10852 SHOC2 gene SHOC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721 19684605 False 3 50;50;0 6.447 False Other ENSG00000108061 ENSG00000108061 HGNC:15454 SHOX gene SHOX DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal LERI-WEILL DYSCHONDROSTEOSIS 127300;LANGER MESOMELIC DYSPLASIA 249700 9590292;11403039;12116254;17935511;9590293;11889214;15356038;21712857;11030412 False 3 50;50;0 6.447 False ENSG00000185960 ENSG00000185960 HGNC:10853 SHROOM3 gene SHROOM3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEURAL TUBE DEFECT 25805808 False 3 50;50;0 6.447 False ENSG00000138771 ENSG00000138771 HGNC:30422 SIAH1 gene SIAH1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SIAH1-associated neurodevelopmental disorder 32430360 False 3 100;0;0 6.447 False ENSG00000196470 ENSG00000196470 HGNC:10857 SIK1 gene SIK1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEONATAL EPILEPSY SPECTRUM 25839329 False 3 50;50;0 6.447 False Other ENSG00000142178 ENSG00000142178 HGNC:11142 SIL1 gene SIL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MARINESCO-SJOEGREN SYNDROME 248800 17026626;18285827;20111056;16282978;16282977 False 3 50;50;0 6.447 False ENSG00000120725 ENSG00000120725 HGNC:24624 SIM1 gene SIM1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe obesity with neurobehavioral features 28472148;23778139;23778136 False 3 50;50;0 6.447 False ENSG00000112246 ENSG00000112246 HGNC:10882 SIN3A gene SIN3A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNDROMIC INTELLECTUAL DISABILITY 612100 27399968 False 3 50;50;0 6.447 False ENSG00000169375 ENSG00000169375 HGNC:19353 SIX1 gene SIX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOTIC SYNDROME TYPE 3, OMIM:608389;Non-syndromic craniosynostosis 15141091;12843324;10777717;17637804 False 3 100;0;0 6.447 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX3 gene SIX3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 609637 19353631;10369266;19346217;11039582;17001667 False 3 50;50;0 6.447 False ENSG00000138083 ENSG00000138083 HGNC:10889 SIX5 gene SIX5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOTORENAL SYNDROME TYPE 2 610896 17357085 False 3 50;50;0 6.447 False ENSG00000177045 ENSG00000177045 HGNC:10891 SKI gene SKI DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212 False 3 50;50;0 6.447 False ENSG00000157933 ENSG00000157933 HGNC:10896 SKIV2L gene SKIV2L DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TRICHOHEPATOENTERIC SYNDROME 2 615602 False 3 50;50;0 6.447 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC10A7 gene SLC10A7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Chondrodysplasia with multiple dislocations and amelogenesis imperfecta 29878199;30082715 False 3 50;50;0 6.447 False ENSG00000120519 ENSG00000120519 HGNC:23088 SLC12A5 gene SLC12A5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FEBRILE SEIZURES 24668262;28477354;26333769;27436767 False 3 50;50;0 6.447 False ENSG00000124140 ENSG00000124140 HGNC:13818 SLC12A6 gene SLC12A6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY 218000 21628467;12368912;27485015;16606917;17893295;31439721 False 3 50;50;0 6.447 False ENSG00000140199 ENSG00000140199 HGNC:10914 SLC12A9 gene SLC12A9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects 38334070 False 3 100;0;0 6.447 False ENSG00000146828 ENSG00000146828 HGNC:17435 SLC13A1 gene SLC13A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC13A1-associated hypersulfaturia and hyposulfatemia 36175384 False 3 100;0;0 6.447 False ENSG00000081800 ENSG00000081800 HGNC:10916 SLC13A5 gene SLC13A5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY WITH SEIZURE ONSET IN THE FIRST DAYS OF LIFE 24995870;26384929 False 3 50;50;0 6.447 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A2 gene SLC16A2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY 300523 8484404;15488219;1605231;14661163;15889350 False 3 50;50;0 6.447 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC17A5 gene SLC17A5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE SIALIC ACID STORAGE DISORDER 269920;SALLA DISEASE 604369 10069709;10947946;10581036 False 3 50;50;0 6.447 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A2 gene SLC18A2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC18A2-related neurotransmitter disorder with dystonia and oculogyric crisis 23363473;36318270 False 3 100;0;0 6.447 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A3 gene SLC19A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 607483 15871139;19387023;20065143 False 3 50;50;0 6.447 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 27476654;28777935 False 3 50;50;0 6.447 False ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A4 gene SLC1A4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC1A4-related Spastic tetraplegia, thin corpus callosum, and progressive microcephaly 27193218;26041762;31763347;34174466 False 3 100;0;0 6.447 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC22A5 gene SLC22A5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SYSTEMIC PRIMARY CARNITINE DEFICIENCY 212140 9916797;2235122;10480371;10545605;15714519;9634512;3974805;10425211;10051646;20027113;9700603;11058897;11261427 False 3 50;50;0 6.447 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC24A4 gene SLC24A4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AMELOGENESIS IMPERFECTA. 23375655 False 3 50;50;0 6.447 False ENSG00000140090 ENSG00000140090 HGNC:10978 SLC25A1 gene SLC25A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC25A1-related Neurometabolic Disorder 29226520;27306203;23561848 False 3 100;0;0 6.447 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A13 gene SLC25A13 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC25A13-related citrullinemia;OMIM:605814.0;MONDO:0011601 29152073;37063661;40992288;36599957 False 3 100;0;0 6.447 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME 238970 11355015;19242930;10369256;16940241;11552031 False 3 50;50;0 6.447 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AMISH LETHAL MICROCEPHALY 216535 12185364 False 3 50;50;0 6.447 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY 212138 9399886;10697964;9686371;12859414;10384384 False 3 50;50;0 6.447 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 319213 False 3 50;50;0 6.447 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A24 gene SLC25A24 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Gorlin-Chaudhry-Moss syndrome (GCMS);Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction 29100094;29100093 False 3 50;50;0 6.447 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A26 gene SLC25A26 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY 26522469 False 3 50;50;0 6.447 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A38 gene SLC25A38 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE 205950 19412178 False 3 50;50;0 6.447 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number;Fontaine progeroid syndrome 27693233;30046662;30329211 False 3 50;50;0 6.447 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC25A42-associated metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416 29923093;29327420;26541337 False 3 100;0;0 6.447 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC26A2 gene SLC26A2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACHONDROGENESIS TYPE 1B 600972;MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 226900;ATELOSTEOGENESIS TYPE 2 256050;DIASTROPHIC DYSPLASIA 222600 18925670;10482955;8571951;7923357;4644462;12966518;10466420;8528239 False 3 50;50;0 6.447 False ENSG00000155850 ENSG00000155850 HGNC:10994 SLC27A4 gene SLC27A4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS PREMATURITY SYNDROME 608649 False 3 50;50;0 6.447 False ENSG00000167114 ENSG00000167114 HGNC:10998 SLC2A1 gene SLC2A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GLUT1 DEFICIENCY SYNDROME TYPE 2 612126;GLUT1 DEFICIENCY SYNDROME TYPE 1 606777 10980529;1714544;19630075;14605501;11136715;19901175;11603379;9462754;18403583;18606970;18577546;18451999;20221955 False 3 50;50;0 6.447 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A10 gene SLC2A10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARTERIAL TORTUOSITY SYNDROME 208050 14569121;17935213;16550171 False 3 50;50;0 6.447 False ENSG00000197496 ENSG00000197496 HGNC:13444 SLC2A2 gene SLC2A2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI-BICKEL SYNDROME 227810 9354798;11044475 False 3 50;50;0 6.447 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC31A1 gene SLC31A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992;35913762;36562171 False 3 50;50;0 6.447 False ENSG00000136868 ENSG00000136868 HGNC:11016 SLC32A1 gene SLC32A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and epileptic encephalopathy 114, OMIM:620774 34038384;36073542 False 3 100;0;0 6.447 False ENSG00000101438 ENSG00000101438 HGNC:11018 SLC33A1 gene SLC33A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE DISORDER WITH CONGENITAL CATARACTS, HEARING LOSS, AND LOW SERUM COPPER AND CERULOPLASMIN False 3 50;50;0 6.447 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC35A1 gene SLC35A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 15576474 False 3 50;50;0 6.447 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Epileptic Encephalopathy due to congenital disorder of glycosylation 24115232 False 3 50;50;0 6.447 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C 266265 11326279;11326280 False 3 50;50;0 6.447 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SCHNECKENBECKEN DYSPLASIA 269250 35934917;11200994;19508970;17952091 False 3 50;50;0 6.447 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SLC37A4-related congenital disorder of glycosylation with liver dysfunction;Glycogen storage disease Ib, OMIM:232220 9758626;21629566;28224773;9428641;24385852;31617422;31508908;33728255;32005221;19579760;25804016;33964207 False 3 100;0;0 6.447 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC38A3 gene SLC38A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC38A3-associated epileptic encephalopathy. 34605855;36539921 False 3 100;0;0 6.447 False ENSG00000188338 ENSG00000188338 HGNC:18044 SLC39A13 gene SLC39A13 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME-LIKE SPONDYLOCHEIRODYSPLASIA 612350;SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH ABNORMAL DENTITION 601668 18513683;18985159 False 3 50;50;0 6.447 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLC39A14 gene SLC39A14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0014864;OMIM:617013.0;SLC39A14-related early onset dystonia parkinsonism 36247901;27231142;36138644 False 3 100;0;0 6.447 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A8 gene SLC39A8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability with Cerebellar Atrophy 26637978;26637979 False 3 50;50;0 6.447 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC45A1 gene SLC45A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual disability and epilepsy 28434495 False 3 50;50;0 6.447 False ENSG00000162426 ENSG00000162426 HGNC:17939 SLC46A1 gene SLC46A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HEREDITARY FOLATE MALABSORPTION 229050 11804211;17446347;21333572;20795774;18559978;11807405 False 3 50;50;0 6.447 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A1 gene SLC4A1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal RENAL TUBULAR ACIDOSIS, DISTAL, AD 179800;RENAL TUBULAR ACIDOSIS, DISTAL, AR 611590 False 3 50;50;0 6.447 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A10 gene SLC4A10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC4A10-related neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746 31130284;37459438;38054405 False 3 100;0;0 6.447 False ENSG00000144290 ENSG00000144290 HGNC:13811 SLC4A11 gene SLC4A11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 613268 False 3 50;50;0 6.447 False ENSG00000088836 ENSG00000088836 HGNC:16438 SLC4A4 gene SLC4A4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PROXIMAL RENAL TUBULAR ACIDOSIS WITH OCULAR ABNORMALITIES 604278 10545938;11274232 False 3 50;50;0 6.447 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC52A2 gene SLC52A2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 22740598;24253200 False 3 50;50;0 6.447 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BROWN-VIALETTO-VAN LAERE SYNDROME 211530 21110228;16122634;20920669;20206331 False 3 50;50;0 6.447 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A5 gene SLC5A5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal THYROID HORMONOGENESIS DEFECT I 274400 9486973;9388506;9171822;3998954;3451231;9745458 False 3 50;50;0 6.447 False ENSG00000105641 ENSG00000105641 HGNC:11040 SLC5A6 gene SLC5A6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLC5A6-related Neurodevelopmental Disorder 27904971;31754459;35013551 False 3 100;0;0 6.447 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC5A7 gene SLC5A7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Congenital Myasthenic Syndrome with Episodic Apnea 27569547 False 3 50;50;0 6.447 False ENSG00000115665 ENSG00000115665 HGNC:14025 SLC6A1 gene SLC6A1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY WITH MYOCLONIC-ATONIC SEIZURES 31176687;34006619;25865495;29961511;29315614;27600546;30132828;31516630 False 3 50;50;0 6.447 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A17 gene SLC6A17 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269 25704603 False 3 50;50;0 6.447 False ENSG00000197106 ENSG00000197106 HGNC:31399 SLC6A3 gene SLC6A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PARKINSONISM-DYSTONIA, INFANTILE 319029 False 3 50;50;0 6.447 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPEREKPLEXIA 149400 False 3 50;50;0 6.447 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females X-LINKED CREATINE DEFICIENCY SYNDROME 300352 16086185;11326334;16738945;12210795;17101918;11898126;15154114 False 3 50;50;0 6.447 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC6A9 gene SLC6A9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Glycine Encephalopathy with Arthrogryposis 27773429 False 3 50;50;0 6.447 False ENSG00000196517 ENSG00000196517 HGNC:11056 SLC9A6 gene SLC9A6 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE 300243 20395263;10528855;18342287 False 3 50;50;0 6.447 False ENSG00000198689 ENSG00000198689 HGNC:11079 SLF2 gene SLF2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SLF2-related developmental disorder 36333305 False 3 100;0;0 6.447 False ENSG00000119906 ENSG00000119906 HGNC:17814 SLX4 gene SLX4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA COMPLEMENTATION GROUP P 613951 21240275;21240277 False 3 50;50;0 6.447 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD3 gene SMAD3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMAD3-RELATED LOEYS-DIETZ SYNDROME 319643 21217753;29392890 False 3 50;50;0 6.447 False ENSG00000166949 ENSG00000166949 HGNC:6769 SMAD4 gene SMAD4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050;MYHRE SYNDROME, OMIM:139210 False 3 50;50;0 6.447 False ENSG00000141646 ENSG00000141646 HGNC:6770 SMARCA2 gene SMARCA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMARCA2-related Nicolaides-Baraitser syndrome, OMIM:601358 28948053;32657847;31813144;25169058;22426308;34521483;22366787;34296532;32694869;31288860;27665729;22822383;35811451 False 3 50;50;0 6.447 False ENSG00000080503 ENSG00000080503 HGNC:11098 SMARCA4 gene SMARCA4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COFFIN SIRIS 135900;RHABDOID TUMOR PREDISPOSITION SYNDROME 2 613325 20137775 False 3 50;50;0 6.447 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCAL1 gene SMARCAL1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SCHIMKE IMMUNOOSSEOUS DYSPLASIA 242900 11799392;15523612 False 3 50;50;0 6.447 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMARCB1 gene SMARCB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EHMT1-like SYNDROME;RHABDOID PREDISPOSITION SYNDROME 1 609322 9671307;22726846;25249037;23906836;22426308;10739763;10521299;23929686;23815551;29907796 False 3 50;50;0 6.447 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMARCC2 gene SMARCC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic Intellectual Disability and Developmental Delay 30580808 False 3 50;50;0 6.447 False ENSG00000139613 ENSG00000139613 HGNC:11105 SMARCD1 gene SMARCD1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNDROMIC INTELLECTUAL DISABILITY 612100 30879640 False 3 50;50;0 6.447 False ENSG00000066117 ENSG00000066117 HGNC:11106 SMARCE1 gene SMARCE1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COFFIN SIRIS 135900 22426308 False 3 50;50;0 6.447 False ENSG00000073584 ENSG00000073584 HGNC:11109 SMC1A gene SMC1A DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) CORNELIA DE LANGE SYNDROME TYPE 2 300590;EPILEPTIC ENCEPHALOPATHY 17273969;28548707;24124034;28102598;31185419;22106055;26358754;20635401;28677859;26354354;16604071;31098032;28166369;26386245;26752331 False 3 50;50;0 6.447 False ENSG00000072501 ENSG00000072501 HGNC:11111 SMC3 gene SMC3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNELIA DE LANGE SYNDROME TYPE 3 610759 17273969;25125236;25655089;20358602 False 3 50;50;0 6.447 False ENSG00000108055 ENSG00000108055 HGNC:2468 SMC5 gene SMC5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SMC5-related developmental disorder 36333305 False 3 100;0;0 6.447 False ENSG00000198887 ENSG00000198887 HGNC:20465 SMCHD1 gene SMCHD1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Isolated Arhinia/Bosma Arhinia syndrome 28067909;28067911 False 3 50;50;0 6.447 False ENSG00000101596 ENSG00000101596 HGNC:29090 SMG8 gene SMG8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SMG8-related Developmental Disorder 33242396 False 3 100;0;0 6.447 False ENSG00000167447 ENSG00000167447 HGNC:25551 SMG9 gene SMG9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SMG9 Multiple Congenital Anomaly Syndrome 27018474;35087184 False 3 50;50;0 6.447 False ENSG00000105771 ENSG00000105771 HGNC:25763 SMO gene SMO DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Curry-Jones Syndrome, OMIM:601707;SMO-related developmental disorder 32413283 False 3 50;50;0 6.447 False ENSG00000128602 ENSG00000128602 HGNC:11119 SMOC1 gene SMOC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OPHTHALMOACROMELIC SYNDROME 206920 19208380;21194678 False 3 50;50;0 6.447 False ENSG00000198732 ENSG00000198732 HGNC:20318 SMOC2 gene SMOC2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH 125400 22152679 False 3 50;50;0 6.447 False ENSG00000112562 ENSG00000112562 HGNC:20323 SMPD1 gene SMPD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NIEMANN-PICK DISEASE TYPE B 607616;NIEMANN-PICK DISEASE TYPE A 257200 19405096;2023926;8401540;12607113;9266408;12369017;1301192;1718266;1885770;8051942;1391960 False 3 50;50;0 6.447 False ENSG00000166311 ENSG00000166311 HGNC:11120 SMPD4 gene SMPD4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Developmental Disorder with Microcephaly and Congenital Arthrogryposis 31495489 False 3 50;50;0 6.447 False ENSG00000136699 ENSG00000136699 HGNC:32949 SMS gene SMS DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SNYDER-ROBINSON SYNDROME 309583 19206178;5823961;18550699 False 3 50;50;0 6.447 False ENSG00000102172 ENSG00000102172 HGNC:11123 SNAP25 gene SNAP25 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy and intellectual disability 33299146;29100083 False 3 50;50;0 6.447 False ENSG00000132639 ENSG00000132639 HGNC:11132 SNAP29 gene SNAP29 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEDNIK SYNDROME 609528 15968592;21073448 False 3 50;50;0 6.447 False ENSG00000099940 ENSG00000099940 HGNC:11133 SNAPC4 gene SNAPC4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SNAPC4-related neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction, OMIM:620515 22222761;36965478 False 3 100;0;0 6.447 False ENSG00000165684 ENSG00000165684 HGNC:11137 SNF8 gene SNF8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SNF8-related disease spectrum (severe developmental and epileptic encephalopathy to syndromic optic atrophy) 38423010 False 3 100;0;0 6.447 False ENSG00000159210 ENSG00000159210 HGNC:17028 SNORD118 gene SNORD118 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with cerebral calcification & cysts 614561 27793341;27571260 False 3 50;50;0 6.447 False ENSG00000200463 ENSG00000200463 HGNC:32952 SNRPB gene SNRPB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRO-COSTO-MANDIBULAR SYNDROME False 3 50;50;0 6.447 False ENSG00000125835 ENSG00000125835 HGNC:11153 SNRPE gene SNRPE DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX 615059 36814386;23246290;9621144 False 3 50;50;0 6.447 False ENSG00000182004 ENSG00000182004 HGNC:11161 SNUPN gene SNUPN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SNUPN-related muscular dystrophy with or without multi-system involvement;MONDO:0971171 38366623;38413582 False 3 100;0;0 6.447 False ENSG00000169371 ENSG00000169371 HGNC:14245 SNX14 gene SNX14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ID, MACROCEPHALY AND CEREBELLAR HYPOPLASIA False 3 50;50;0 6.447 False ENSG00000135317 ENSG00000135317 HGNC:14977 SON gene SON DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability, Congenital Malformations, and Failure to Thrive 27545676;27545680 False 3 50;50;0 6.447 False ENSG00000159140 ENSG00000159140 HGNC:11183 SOS1 gene SOS1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NOONAN SYNDROME 4 610733 19438935;17143285;18925667 False 3 50;50;0 6.447 False Other ENSG00000115904 ENSG00000115904 HGNC:11187 SOS2 gene SOS2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SOS-2 associated Noonan syndrome, OMIM:616559 26173643;25795793;32788663 False 3 100;0;0 6.447 False ENSG00000100485 ENSG00000100485 HGNC:11188 SOX10 gene SOX10 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WAARDENBURG SYNDROME TYPE 2E 611584;KALLMANN SYNDROME WITH DEAFNESS;WAARDENBURG SYNDROME TYPE 4C 613266;YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME 601706;PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE 609136 18627047;8911608;21965087;20478267;11026454;10482261;18348274;23643381;12447940;9462749;18348267;19764030;17999358;10077527;19208381;10762540 False 3 50;50;0 6.447 False ENSG00000100146 ENSG00000100146 HGNC:11190 SOX11 gene SOX11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866 35341651;26543203;24886874 False 3 67;33;0 6.447 False ENSG00000176887 ENSG00000176887 HGNC:11191 SOX17 gene SOX17 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VESICOURETERAL REFLUX TYPE 3 613674 20960469 False 3 50;50;0 6.447 False ENSG00000164736 ENSG00000164736 HGNC:18122 SOX2 gene SOX2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AEG SYNDROME;MICROPHTHALMIA SYNDROMIC TYPE 3 206900 15389708;16145681;21326281;18831064;16283891;12002146;12612584;15346919;17219395;15812812;16932809;16543359;21919124;19254784;16470798 False 3 50;50;0 6.447 False ENSG00000181449 ENSG00000181449 HGNC:11195 SOX3 gene SOX3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123;Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252;Panhypopituitarism, X-linked, OMIM:312000;Panhypopituitarism, X-linked, MONDO:0010712 8826446 False 3 50;50;0 6.447 False ENSG00000134595 ENSG00000134595 HGNC:11199 SOX4 gene SOX4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental Disease Associated with Mild Dysmorphism 35232796;30661772 False 3 50;50;0 6.447 False ENSG00000124766 ENSG00000124766 HGNC:11200 SOX5 gene SOX5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY 36861937;22290657 False 3 50;50;0 6.447 False ENSG00000134532 ENSG00000134532 HGNC:11201 SOX6 gene SOX6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SOX6-related neurodevelopmental syndrome 32442410 False 3 100;0;0 6.447 False ENSG00000110693 ENSG00000110693 HGNC:16421 SOX9 gene SOX9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PIERRE ROBIN SEQUENCE;CAMPOMELIC DYSPLASIA 114290 11323423;11754051;10951468;12783851;8894698;7990924;7485151;8001137;19449405;11076045 False 3 50;50;0 6.447 False ENSG00000125398 ENSG00000125398 HGNC:11204 SP9 gene SP9 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown complex neurodevelopmental disorder, MONDO:0100038;SP9-related neurodevelopmental disorder with or without epileptic encephalopathy 38288683 False 3 100;0;0 6.447 False ENSG00000217236 ENSG00000217236 HGNC:30690 SPAG1 gene SPAG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA ASSOCIATED WITH DEFECTIVE OUTER AND INNER DYNEIN ARMS. 24055112 False 3 50;50;0 6.447 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPARC gene SPARC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OSTEOGENESIS IMPERFECTA, TYPE XVII 616507 26027498 False 3 50;50;0 6.447 False ENSG00000113140 ENSG00000113140 HGNC:11219 SPAST gene SPAST DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPAST-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPATA5 gene SPATA5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 616577 26299366 False 3 50;50;0 6.447 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPATA5L1 gene SPATA5L1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPATA5L1-associated sensorineural hearing loss and intellectual disability 34626583 False 3 100;0;0 6.447 False ENSG00000171763 ENSG00000171763 HGNC:28762 SPECC1L gene SPECC1L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FACIAL CLEFTING, OBLIQUE, 1 600251 21703590;2541274 False 3 50;50;0 6.447 False ENSG00000100014 ENSG00000100014 HGNC:29022 SPEG gene SPEG DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CENTRONUCLEAR MYOPATHY WITH DILATED CARDIOMYOPATHY 615959 25087613 False 3 50;50;0 6.447 False ENSG00000072195 ENSG00000072195 HGNC:16901 SPEN gene SPEN DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPEN-related developmental disorder (monoallelic) 33596411;33057194 False 3 100;0;0 6.447 False ENSG00000065526 ENSG00000065526 HGNC:17575 SPG11 gene SPG11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPASTIC PARAPLEGIA-11 604360 19194956;17322883;18067136;17717710 False 3 50;50;0 6.447 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPOP gene SPOP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPOP-related Neurodevelopmental Disorder, gain of function;SPOP-related Neurodevelopmental Disorder, dominant negative 32109420 False 3 100;0;0 6.447 False Other ENSG00000121067 ENSG00000121067 HGNC:11254 SPR gene SPR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY 612716 11443547 False 3 50;50;0 6.447 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPRED1 gene SPRED1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LEGIUS SYNDROME 611431 17704776;19443465;21649642;19366998 False 3 50;50;0 6.447 False ENSG00000166068 ENSG00000166068 HGNC:20249 SPRED2 gene SPRED2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPRED2-related Noonan syndrome 34626534 False 3 100;0;0 6.447 False ENSG00000198369 ENSG00000198369 HGNC:17722 SPTAN1 gene SPTAN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477 36331550;34590414;22258530;20493457;29050398 False 3 50;50;0 6.447 False Other - please provide details in the comments ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN1 gene SPTBN1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPTBN1-related developmental disorder (monoallelic) 34211179;33847457 False 3 100;0;0 6.447 False ENSG00000115306 ENSG00000115306 HGNC:11275 SPTBN2 gene SPTBN2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SCA14;Infantile ataxia with oculomotor and pyramidal signs 29795474;22914369;25981959 False 3 50;50;0 6.447 False ENSG00000173898 ENSG00000173898 HGNC:11276 SPTBN4 gene SPTBN4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519 28540413;29861105;28940097;31857255;31230720 False 3 100;0;0 6.447 False ENSG00000160460 ENSG00000160460 HGNC:14896 SPTLC2 gene SPTLC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, OMIM:613640 False 3 50;50;0 6.447 False ENSG00000100596 ENSG00000100596 HGNC:11278 SPTSSA gene SPTSSA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OMIM:620416.0;MONDO:0957308;SPTSSA-related complex hereditary spastic paraplegia 36718090 False 3 100;0;0 6.447 False ENSG00000165389 ENSG00000165389 HGNC:20361 SRCAP gene SRCAP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FLOATING-HARBOR SYNDROME 136140 33909990;20358590;30425916;23621943;22265015;30304910;24375913;23763483;22965468;23165645;25433523;26788936 False 3 50;50;0 6.447 False ENSG00000080603 ENSG00000080603 HGNC:16974 SRD5A3 gene SRD5A3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDERS OF GLYCOSYLATION 612379 18271001;30019980;20637498 False 3 50;50;0 6.447 False ENSG00000128039 ENSG00000128039 HGNC:25812 SREBF2 gene SREBF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SREBF2-related complex dermatological, neurological, and skeletal abnormalities 26350204;38847193 False 3 100;0;0 6.447 False Other ENSG00000198911 ENSG00000198911 HGNC:11290 SRP54 gene SRP54 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic neutropenia with Shwachman-Diamond-like features 28972538 False 3 50;50;0 6.447 False ENSG00000100883 ENSG00000100883 HGNC:11301 SRRM2 gene SRRM2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SRRM2-related developmental disorder (monoallelic) 33057194;35567594 False 3 100;0;0 6.447 False ENSG00000167978 ENSG00000167978 HGNC:16639 SRY gene SRY DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females 46XY SEX REVERSAL 1 400044 8105086;2247151;1639410;10852465;1956279;1339396;7987333;1619028;2247149;9443877;1483689;9521592;7985018;1570829;9150734;12107262 False 3 50;50;0 6.447 False ENSG00000184895 ENSG00000184895 HGNC:11311 ST14 gene ST14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS AUTOSOMAL RECESSIVE WITH HYPOTRICHOSIS 610765 18445049;17273967 False 3 50;50;0 6.447 False ENSG00000149418 ENSG00000149418 HGNC:11344 ST3GAL3 gene ST3GAL3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003;Intellectual developmental disorder, autosomal recessive 12, OMIM:611090;intellectual disability, autosomal recessive 12, MONDO:0012612 31584066;27604308;21907012;23252400;17120046;25529582 False 3 50;50;0 6.447 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AMISH INFANTILE EPILEPSY SYNDROME 319543 30691927;24026681;27232954;15502825;30185102 False 3 50;50;0 6.447 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAC3 gene STAC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal STAC3-associated congenital myopathy and malignant hyperthermia, OMIM:255995 28777491;33820833;30168660;33060286;28411587 False 3 100;0;0 6.447 False ENSG00000185482 ENSG00000185482 HGNC:28423 STAG1 gene STAG1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown STAG1 syndromic intellectual disability 30158690;28119487 False 3 50;50;0 6.447 False ENSG00000118007 ENSG00000118007 HGNC:11354 STAG2 gene STAG2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females STAG2-related developmental delay with microcephaly and congenital anomalies 30158690;29263825;28296084 False 3 50;50;0 6.447 False ENSG00000101972 ENSG00000101972 HGNC:11355 STAMBP gene STAMBP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY CAPILLARY MALFORMATION (MIC-CAP) SYNDROME 23542699 False 3 50;50;0 6.447 False ENSG00000124356 ENSG00000124356 HGNC:16950 STAR gene STAR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CHOLESTEROL DESMOLASE-DEFICIENT CONGENITAL ADRENAL HYPERPLASIA 201710 8634702;8948562;16968793;9141542;7892608;15546900;14764819;10566637;10323391 False 3 50;50;0 6.447 False ENSG00000147465 ENSG00000147465 HGNC:11359 STAT5B gene STAT5B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590 13679528 False 3 50;50;0 6.447 False ENSG00000173757 ENSG00000173757 HGNC:11367 STIL gene STIL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY PRIMARY TYPE 7 612703 19215732 False 3 50;50;0 6.447 False ENSG00000123473 ENSG00000123473 HGNC:10879 STN1 gene STN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts 2 27432940 False 3 50;50;0 6.447 False ENSG00000107960 ENSG00000107960 HGNC:26200 STRA6 gene STRA6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA SYNDROMIC TYPE 9 601186 19839040;11857549;17273977;21901792;17503335 False 3 50;50;0 6.447 False ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087 27170158;33247513;17522105;30311510 False 3 100;0;0 6.447 False ENSG00000266173 ENSG00000266173 HGNC:30172 STS gene STS DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females ICHTHYOSIS, X-LINKED 308100 1539590;9252398;3032454 False 3 50;50;0 6.447 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3A gene STT3A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596 23842455;34653363 False 3 50;50;0 6.447 False ENSG00000134910 ENSG00000134910 HGNC:6172 STX1A gene STX1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown STX1A-associated neurodevelopmental disorder with epilepsy;STX1A-associated neurodevelopmental disorder without epilepsy 36564538 False 3 100;0;0 6.447 False ENSG00000106089 ENSG00000106089 HGNC:11433 STX1B gene STX1B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9 616172 25362483 False 3 50;50;0 6.447 False ENSG00000099365 ENSG00000099365 HGNC:18539 STXBP1 gene STXBP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 4 612164;ANGELMAN/PITT HOPKINS SYNDROME-LIKE DISORDER 18469812;29929108;27069701;25714420;30654231;21770924;31387522;24315539;29544889;29264391;26212315;32105008;26384463;19557857;24170257;29718889;24095819;27184330;28944233;29896790;20876469;26865513;24623842;31344879;21204804;20887364;22596016;25418441;23533165;24189369;26514728;23763664;21762454;23409955;21364700;21062273;23531706;25631041 False 3 50;50;0 6.447 False ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLG1 gene SUCLG1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FATAL INFANTILE LACTIC ACIDOSIS 308078 False 3 50;50;0 6.447 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUFU gene SUFU DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert Syndrome with Cranio-facial and Skeletal Defects;SUFU-related Joubert and congenital ocular motor apraxia 33024317;28965847;34675124 False 3 50;50;0 6.447 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUMF1 gene SUMF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SULFATIDOSIS, JUVENILE, AUSTIN TYPE 272200 21224894;12757705;12757706 False 3 50;50;0 6.447 False ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, OMIM:272300 34117075;33405344;34025712;12112661;15952210 False 3 100;0;0 6.447 False ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME 256000;COMPLEX IV DEFICIENCY 220110 False 3 50;50;0 6.447 False ENSG00000148290 ENSG00000148290 HGNC:11474 SUZ12 gene SUZ12 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Weaver-like overgrowth syndrome 28229514;30019515;31736240 False 3 50;50;0 6.447 False ENSG00000178691 ENSG00000178691 HGNC:17101 SYN1 gene SYN1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS 290927 False 3 50;50;0 6.447 False ENSG00000008056 ENSG00000008056 HGNC:11494 SYNE1 gene SYNE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, OMIM:610743 False 3 50;50;0 6.447 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNGAP1 gene SYNGAP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 612621;EPILEPTIC ENCEPHALOPATHY 30685520;26110312;23141534;26079862;23161826;30572772;21237447;19196676;23033978;28721930;30800045;28576131;26989088;31395010;30556619;23708187;29381230 False 3 50;50;0 6.447 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYP gene SYP DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED SYP-RELATED 300802 19377476 False 3 50;50;0 6.447 False ENSG00000102003 ENSG00000102003 HGNC:11506 SYT1 gene SYT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 30107533;25705886 False 3 50;50;0 6.447 False ENSG00000067715 ENSG00000067715 HGNC:11509 SYT2 gene SYT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SYT2-related congenital onset presynaptic myasthenic syndrome 32250532;32776697 False 3 100;0;0 6.447 False ENSG00000143858 ENSG00000143858 HGNC:11510 SZT2 gene SZT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM 23932106 False 3 50;50;0 6.447 False ENSG00000198198 ENSG00000198198 HGNC:29040 TAB2 gene TAB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 612863 27479907;20493459 False 3 50;50;0 6.447 False ENSG00000055208 ENSG00000055208 HGNC:17075 TAC3 gene TAC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOGONADOTROPIC HYPOGONADISM 146110 19079066 False 3 50;50;0 6.447 False ENSG00000166863 ENSG00000166863 HGNC:11521 TACO1 gene TACO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY 256000 False 3 50;50;0 6.447 False ENSG00000136463 ENSG00000136463 HGNC:24316 TACR3 gene TACR3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOGONADOTROPIC HYPOGONADISM 146110 19079066 False 3 50;50;0 6.447 False ENSG00000169836 ENSG00000169836 HGNC:11528 TAF1 gene TAF1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Dysmorphic Features, Intellectual Disability, and Neurological Manifestations 26637982 False 3 50;50;0 6.447 False ENSG00000147133 ENSG00000147133 HGNC:11535 TAF13 gene TAF13 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Autosomal-Recessive Intellectual Disability and Microcephaly 28257693 False 3 50;50;0 6.447 False ENSG00000197780 ENSG00000197780 HGNC:11546 TAF8 gene TAF8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TAF8-associated neurodevelopmental disorder 35759269 False 3 100;0;0 6.447 False ENSG00000137413 ENSG00000137413 HGNC:17300 TANGO2 gene TANGO2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy 26805782;26805781 False 3 50;50;0 6.447 False ENSG00000183597 ENSG00000183597 HGNC:25439 TAOK1 gene TAOK1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 616579 31230721;33565190 False 3 50;50;0 6.447 False ENSG00000160551 ENSG00000160551 HGNC:29259 TAPT1 gene TAPT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COMPLEX LETHAL OSTEOCHONDRODYSPLASIA 26365339 False 3 50;50;0 6.447 False ENSG00000169762 ENSG00000169762 HGNC:26887 TARS gene TARS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Non-photosensitive trichothiodystrophy 31374204 False 3 50;50;0 6.447 False ENSG00000113407 ENSG00000113407 HGNC:11572 TASP1 gene TASP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TASP1-related neurodevelopmental disorder 35512351;31209944 False 3 100;0;0 6.447 False ENSG00000089123 ENSG00000089123 HGNC:15859 TAT gene TAT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TYROSINEMIA TYPE 2 276600 1357662 False 3 50;50;0 6.447 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females BARTH SYNDROME 302060 8630491 False 3 50;50;0 6.447 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D20 gene TBC1D20 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 4 24239381 False 3 50;50;0 6.447 False ENSG00000125875 ENSG00000125875 HGNC:16133 TBC1D23 gene TBC1D23 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Non-degenerative Pontocerebellar Hypoplasia 28823706;28823707 False 3 50;50;0 6.447 False ENSG00000036054 ENSG00000036054 HGNC:25622 TBC1D24 gene TBC1D24 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DOORS SYNDROME 220500;MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL 605021;NON SYNDROMAL HEARING LOSS 614617 20727515;10741954;24291220;20797691 False 3 50;50;0 6.447 False ENSG00000162065 ENSG00000162065 HGNC:29203 TBC1D2B gene TBC1D2B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TBC1D2B-related neurodevelopmental disorder 36029130;32623794 False 3 100;0;0 6.447 False ENSG00000167202 ENSG00000167202 HGNC:29183 TBC1D32 gene TBC1D32 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TBC1D32-related ciliopathy;Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871 31585110;32573025;36826837;32060556;24285566 False 3 100;0;0 6.447 False ENSG00000146350 ENSG00000146350 HGNC:21485 TBCD gene TBCD DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Early-Onset Neurodegenerative Encephalopathy 27666374;27666370 False 3 50;50;0 6.447 False ENSG00000141556 ENSG00000141556 HGNC:11581 TBCE gene TBCE DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy;HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410 12389028;27666369 False 3 100;0;0 6.447 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBCK gene TBCK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe Infantile Syndromic Encephalopathy 27748029;27040691;27040692 False 3 50;50;0 6.447 False ENSG00000145348 ENSG00000145348 HGNC:28261 TBL1XR1 gene TBL1XR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pierpont syndrome;Intellectual disability with autism spectrum disorder 25425123;25102098;29777588;30365874;26769062;28687524;23160955 False 3 50;50;0 6.447 False ENSG00000177565 ENSG00000177565 HGNC:29529 TBR1 gene TBR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 25232744;23160955;30268909;32005960 False 3 50;50;0 6.447 False ENSG00000136535 ENSG00000136535 HGNC:11590 TBX1 gene TBX1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 22Q11.2 DELETION SYNDROME 188400 14585638 False 3 50;50;0 6.447 False ENSG00000184058 ENSG00000184058 HGNC:11592 TBX15 gene TBX15 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature;Cousin Syndrome 24039145;19068278 False 3 50;50;0 6.447 False ENSG00000092607 ENSG00000092607 HGNC:11594 TBX18 gene TBX18 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2 143400 26235987 False 3 50;50;0 6.447 False ENSG00000112837 ENSG00000112837 HGNC:11595 TBX20 gene TBX20 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT TYPE 4 611363 19762328;17668378 False 3 50;50;0 6.447 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX22 gene TBX22 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females CLEFT PALATE, X-LINKED 304011 False 3 50;50;0 6.447 False ENSG00000122145 ENSG00000122145 HGNC:11600 TBX3 gene TBX3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ULNAR-MAMMARY SYNDROME 181450 9207801;19938096;12668170;12116211 False 3 50;50;0 6.447 False ENSG00000135111 ENSG00000135111 HGNC:11602 TBX4 gene TBX4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SMALL PATELLA SYNDROME 147891 11303519;15106123;31761294 False 3 50;50;0 6.447 False ENSG00000121075 ENSG00000121075 HGNC:11603 TBX5 gene TBX5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLT-ORAM SYNDROME 142900 False 3 50;50;0 6.447 False ENSG00000089225 ENSG00000089225 HGNC:11604 TBXAS1 gene TBXAS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GHOSAL HEMATODIAPHYSEAL SYNDROME 231095 False 3 50;50;0 6.447 False ENSG00000059377 ENSG00000059377 HGNC:11609 TCEAL1 gene TCEAL1 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females TCEAL1-related neurodevelopmental disorder 36368327 False 3 100;0;0 6.447 False ENSG00000172465 ENSG00000172465 HGNC:11616 TCF12 gene TCF12 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORONAL CRANIOSYNOSTOSIS 23354436;33004838 False 3 50;50;0 6.447 False ENSG00000140262 ENSG00000140262 HGNC:11623 TCF20 gene TCF20 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TCF20 syndrome 30819258;25228304;30739909;28135719;27436265 False 3 50;50;0 6.447 False ENSG00000100207 ENSG00000100207 HGNC:11631 TCF4 gene TCF4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PITT-HOPKINS SYNDROME 610954 29604340;17436254;22670824;20184619;18728071;19938247;17436255;22045651;20205897;27132474;30848346;29695756;23528641;19235238 False 3 50;50;0 6.447 False ENSG00000196628 ENSG00000196628 HGNC:11634 TCF7L2 gene TCF7L2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TCF7L2-related developmental disorder (monoallelic) 34003604;33057194 False 3 100;0;0 6.447 False ENSG00000148737 ENSG00000148737 HGNC:11641 TCN2 gene TCN2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency 7849710 False 3 50;50;0 6.447 False ENSG00000185339 ENSG00000185339 HGNC:11653 TCOF1 gene TCOF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TREACHER COLLINS SYNDROME TYPE 1 154500 15039977;14598341;9096354;15214011;8563749;11013442;12114482 False 3 50;50;0 6.447 False ENSG00000070814 ENSG00000070814 HGNC:11654 TCP1 gene TCP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TCP1-related neurodevelopmental disorder with polymicrogyria 39480921 False 3 100;0;0 6.447 False ENSG00000120438 ENSG00000120438 HGNC:11655 TCTN1 gene TCTN1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME AND RELATED DISORDERS 194263 False 3 50;50;0 6.447 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME AND RELATED DISORDERS 194263 False 3 50;50;0 6.447 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MOHR-MAJEWSKI SYNDROME 258860 22883145 False 3 50;50;0 6.447 False ENSG00000119977 ENSG00000119977 HGNC:24519 TDP2 gene TDP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TDP2-related spinocerebellar ataxia with seizures and developmental delay 34606976;31410782;32651480;30109272;24658003 False 3 100;0;0 6.447 False ENSG00000111802 ENSG00000111802 HGNC:17768 TDRD7 gene TDRD7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CATARACT CONGENITAL AUTOSOMAL RECESSIVE TYPE 4 613887 False 3 50;50;0 6.447 False ENSG00000196116 ENSG00000196116 HGNC:30831 TECPR2 gene TECPR2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HEREDITARY SPASTIC PARAPARESIS 615031 23176824 False 3 50;50;0 6.447 False ENSG00000196663 ENSG00000196663 HGNC:19957 TEK gene TEK DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL 600195 7833915;10369874;19888299 False 3 50;50;0 6.447 False Other ENSG00000120156 ENSG00000120156 HGNC:11724 TELO2 gene TELO2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TELO2 Syndromic Intellectual Disability Disorder 27132593;36797513;28944240 False 3 50;50;0 6.447 False ENSG00000100726 ENSG00000100726 HGNC:29099 TERC gene TERC DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dyskeratosis congenita, autosomal dominant 1 12090986 False 3 33;33;33 6.447 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4 17785587 False 3 50;50;0 6.447 False ENSG00000164362 ENSG00000164362 HGNC:11730 TET3 gene TET3 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal TET3 DNA Demethylation Disorder biallelic;TET3 DNA Demethylation Disorder monoallelic 31928709 False 3 100;0;0 6.447 False ENSG00000187605 ENSG00000187605 HGNC:28313 TFAP2A gene TFAP2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BRANCHIOOCULOFACIAL SYNDROME 113620 31490282 False 3 50;50;0 6.447 False ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHAR SYNDROME 169100 10802654;11505339;7645594 False 3 50;50;0 6.447 False ENSG00000008196 ENSG00000008196 HGNC:11743 TFE3 gene TFE3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) TFE3-related intellectual disability with pigmentary mosaicism;Intellectual disability with pigmentary mosaicism and storage disorder 30595499;33057194;32409512;31833172 False 3 100;0;0 6.447 False ENSG00000068323 ENSG00000068323 HGNC:11752 TGDS gene TGDS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CATEL-MANZKE SYNDROME 616145 25480037 False 3 50;50;0 6.447 False ENSG00000088451 ENSG00000088451 HGNC:20324 TGFB1 gene TGFB1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Camurati-Engelmann disease, OMIM:131300 11062463;15103729;10973241 False 3 50;50;0 6.447 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGFB2 gene TGFB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME, TYPE 4, OMIM:614816 False 3 50;50;0 6.447 False ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME 615582 24798638 False 3 50;50;0 6.447 False ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME TYPE 2A 608967;LOEYS-DIETZ SYNDROME TYPE 1A 609192;AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192 16791849;16928994;18070134;16596670;15731757 False 3 50;50;0 6.447 False Other ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LOEYS-DIETZ SYNDROME;TGFBR2-RELATED LOEYS-DIETZ SYNDROME 249163 False 3 50;50;0 6.447 False ENSG00000163513 ENSG00000163513 HGNC:11773 TGIF1 gene TGIF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 609637 False 3 50;50;0 6.447 False ENSG00000177426 ENSG00000177426 HGNC:11776 TH gene TH DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DOPA-RESPONSIVE DYSTONIA 605407 21937992;10585338;11246459;8817341;9703425;17696123;8528210;9732974;7814018 False 3 50;50;0 6.447 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DYSTONIA 6, TORSION 602629 30237473 False 3 50;50;0 6.447 False ENSG00000131931 ENSG00000131931 HGNC:20856 THOC2 gene THOC2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION, X-LINKED 12 300957 26166480 False 3 50;50;0 6.447 False ENSG00000125676 ENSG00000125676 HGNC:19073 THOC6 gene THOC6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Beaulieu-Boycott-Innes syndrome 23621916;26739162;27295358 False 3 50;50;0 6.447 False ENSG00000131652 ENSG00000131652 HGNC:28369 THRA gene THRA DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 614450 22494134;22168587 False 3 50;50;0 6.447 False ENSG00000126351 ENSG00000126351 HGNC:11796 THUMPD1 gene THUMPD1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal THUMPD1 neurodevelopment disorder 35196516 False 3 100;0;0 6.447 False ENSG00000066654 ENSG00000066654 HGNC:23807 TIMM8A gene TIMM8A DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MOHR-TRANEBJAERG SYNDROME 304700;JENSEN SYNDROME 311150 31903733 False 3 50;50;0 6.447 False ENSG00000126953 ENSG00000126953 HGNC:11817 TINF2 gene TINF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EXUDATIVE RETINOPATHY WITH BONE MARROW FAILURE 18252230 False 3 50;50;0 6.447 False ENSG00000092330 ENSG00000092330 HGNC:11824 TK2 gene TK2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM 258276 False 3 50;50;0 6.447 False ENSG00000166548 ENSG00000166548 HGNC:11831 TKT gene TKT DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Short Stature, Developmental Delay, and Congenital Heart Defects 27259054 False 3 50;50;0 6.447 False ENSG00000163931 ENSG00000163931 HGNC:11834 TLK2 gene TLK2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TLK2 syndrome 27479843;29861108 False 3 50;50;0 6.447 False ENSG00000146872 ENSG00000146872 HGNC:11842 TM2D3 gene TM2D3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0700092;TM2D3-related neurodevelopmental disorder with microcephaly and congenital malformations 40449487 False 3 100;0;0 6.447 False ENSG00000184277 ENSG00000184277 HGNC:24128 TMCO1 gene TMCO1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980 20018682 False 3 50;50;0 6.447 False ENSG00000143183 ENSG00000143183 HGNC:18188 TMEM106B gene TMEM106B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TMEM106B related hypomyelinating leukodystrophy 29444210;29186371 False 3 100;0;0 6.447 False ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM126B gene TMEM126B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Muscle Weakness and Isolated Complex I Deficiency 27374774;27374773 False 3 50;50;0 6.447 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM147 gene TMEM147 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TMEM147-related developmental disorder 36044892 False 3 100;0;0 6.447 False ENSG00000105677 ENSG00000105677 HGNC:30414 TMEM163 gene TMEM163 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TMEM163-related hypomyelinating leukodystrophy 35953447;35455965 False 3 100;0;0 6.447 False ENSG00000152128 ENSG00000152128 HGNC:25380 TMEM165 gene TMEM165 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK 614727 22683087 False 3 50;50;0 6.447 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM199 gene TMEM199 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Disorder of Golgi homeostasis 26833330 False 3 50;50;0 6.447 False ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM216 gene TMEM216 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 2 608091 20512146;20036350 False 3 50;50;0 6.447 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TMEM218-associated ciliopathy 35137054;33791682 False 3 100;0;0 6.447 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM222 gene TMEM222 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TMEM222-related Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, OMIM:619470 33824500 False 3 100;0;0 6.447 False ENSG00000186501 ENSG00000186501 HGNC:25363 TMEM237 gene TMEM237 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOUBERT SYNDROME 14 614424 17603801;14760273;22152675 False 3 50;50;0 6.447 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM240 gene TMEM240 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454 30522958;25070513;29687291;32705938;26813285 False 3 100;0;0 6.447 False ENSG00000205090 ENSG00000205090 HGNC:25186 TMEM251 gene TMEM251 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TMEM251-related skeletal dysplasia 33252156 False 3 100;0;0 6.447 False ENSG00000153485 ENSG00000153485 HGNC:20218 TMEM260 gene TMEM260 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome OMIM:617478;Structural heart defects and renal anomalies syndrome MONDO:0044321 34612517;28318500 False 3 67;33;0 6.447 False ENSG00000070269 ENSG00000070269 HGNC:20185 TMEM5 gene TMEM5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SEVERE COBBLESTONE LISSENCEPHALY 615041 23519211;23217329 False 3 50;50;0 6.447 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM63A gene TMEM63A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Transient Hypomyelination during Infancy 31587869 False 3 100;0;0 6.447 False ENSG00000196187 ENSG00000196187 HGNC:29118 TMEM63B gene TMEM63B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TMEM63B-related developmental and epileptic encephalopathy with anaemia 37421948 False 3 100;0;0 6.447 False Other ENSG00000137216 ENSG00000137216 HGNC:17735 TMEM63C gene TMEM63C DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TMEM63C-associated hereditary spastic paraplegia 35718349 False 3 100;0;0 6.447 False ENSG00000165548 ENSG00000165548 HGNC:23787 TMEM67 gene TMEM67 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS TYPE 11 613550;MECKEL SYNDROME TYPE 3 607361;COACH SYNDROM 216360;JOUBERT SYNDROME TYPE 6 610688 19508969;17377820;16415887 False 3 50;50;0 6.447 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM70 gene TMEM70 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052 21147908;18953340 False 3 50;50;0 6.447 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMEM94 gene TMEM94 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316 30526868 False 3 50;50;0 6.447 False ENSG00000177728 ENSG00000177728 HGNC:28983 TMPRSS6 gene TMPRSS6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IRON-REFRACTORY IRON DEFICIENCY ANEMIA 206200 19357398;18408718;19592582;18596229 False 3 50;50;0 6.447 False ENSG00000187045 ENSG00000187045 HGNC:16517 TMTC3 gene TMTC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Cobblestone Lissencephaly 27773428 False 3 50;50;0 6.447 False ENSG00000139324 ENSG00000139324 HGNC:26899 TMX2 gene TMX2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Primary microcephaly, cortical malformation and epileptic encephalopathy 31735293 False 3 100;0;0 6.447 False ENSG00000213593 ENSG00000213593 HGNC:30739 TNFRSF13B gene TNFRSF13B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal IMMUNODEFICIENCY, COMMON VARIABLE, 2 240500 16007086 False 3 33;33;33 6.447 False ENSG00000240505 ENSG00000240505 HGNC:18153 TNNT3 gene TNNT3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TNNT3-associated congenital myopathy (biallelic) 33977145;29266598 False 3 100;0;0 6.447 False ENSG00000130595 ENSG00000130595 HGNC:11950 TNRC6B gene TNRC6B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TNRC6B-related neurodevelopmental disorder 32152250 False 3 100;0;0 6.447 False ENSG00000100354 ENSG00000100354 HGNC:29190 TOE1 gene TOE1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA 34085948;28092684 False 3 50;50;0 6.447 False ENSG00000132773 ENSG00000132773 HGNC:15954 TOGARAM1 gene TOGARAM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TOGARAM1-related ciliopathy 32747439;32453716 False 3 100;0;0 6.447 False ENSG00000198718 ENSG00000198718 HGNC:19959 TONSL gene TONSL DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TONSL-related sponastrime dysplasia;MONDO:0010068;OMIM:271510.0 30773277;30773278 False 3 100;0;0 6.447 False ENSG00000160949 ENSG00000160949 HGNC:7801 TOP3A gene TOP3A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome like Disorder 30193137 False 3 50;50;0 6.447 False ENSG00000177302 ENSG00000177302 HGNC:11992 TOR1A gene TOR1A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TOR1A-associated arthrogryposis multiplex congenita (AR) 30244176;33175450;33832800;28516161;36757831 False 3 100;0;0 6.447 False ENSG00000136827 ENSG00000136827 HGNC:3098 TP53RK gene TP53RK DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME 4, 617730 28805828;30053862 False 3 50;50;0 6.447 False ENSG00000172315 ENSG00000172315 HGNC:16197 TP63 gene TP63 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE 129400;NON-SYNDROMIC OROFACIAL CLEFT TYPE 8 129400;SPLIT-HAND/FOOT MALFORMATION TYPE 4 605289;ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE 106260;ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3 604292;LIMB-MAMMARY SYNDROME 603543;ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME 103285 14684701;15736220;19530185;10535733;12939657;11528512;12766194;12838557;11462173;9443880;17609671;11159940;21204238;16740912;10886756;3366140;19239083;11929852;16724007;10839977;16114047 False 3 50;50;0 6.447 False ENSG00000073282 ENSG00000073282 HGNC:15979 TP73 gene TP73 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TP73-related ciliary dyskinesia and lissencephaly, OMIM:619466 34077761 False 3 100;0;0 6.447 False ENSG00000078900 ENSG00000078900 HGNC:12003 TPM2 gene TPM2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ARTHROGRYPOSIS, DISTAL, TYPE 1 108120 12592607 False 3 50;50;0 6.447 False ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nemaline/Cap myopathy 33768912;24692096 False 3 100;0;0 6.447 False ENSG00000143549 ENSG00000143549 HGNC:12012 TPP1 gene TPP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500 10330339;17959406;12376936;12414822;9295267;10665500 False 3 50;50;0 6.447 False ENSG00000166340 ENSG00000166340 HGNC:2073 TPP2 gene TPP2 DD-Gene2Phenotype;Expert Review Green;Literature DDG2P BIALLELIC, autosomal or pseudoautosomal autoimmunity;Developmental delay;immunodefficiency;TPP2-related immune deficiency, autoimmune disease and intellectual disability 33586135;25414442;PMID: 25414442;25525876 False 3 100;0;0 6.447 False ENSG00000134900 ENSG00000134900 HGNC:12016 TRA2B gene TRA2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRA2B-associated neurodevelopmental syndrome 36549593 False 3 100;0;0 6.447 False ENSG00000136527 ENSG00000136527 HGNC:10781 TRAF7 gene TRAF7 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental Delay Congenital Anomalies and Dysmorphic Features 29961569 False 3 100;0;0 6.447 False ENSG00000131653 ENSG00000131653 HGNC:20456 TRAIP gene TRAIP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMORDIAL DWARFISM 615272 26595769 False 3 50;50;0 6.447 False ENSG00000183763 ENSG00000183763 HGNC:30764 TRAPPC11 gene TRAPPC11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S 615356 23830518 False 3 50;50;0 6.447 False ENSG00000168538 ENSG00000168538 HGNC:25751 TRAPPC12 gene TRAPPC12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Progressive Childhood Encephalopathy and Golgi Dysfunction 28777934 False 3 50;50;0 6.447 False ENSG00000171853 ENSG00000171853 HGNC:24284 TRAPPC2 gene TRAPPC2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females SPONDYLOEPIPHYSEAL DYSPLASIA TARDA 313400 False 3 50;50;0 6.447 False ENSG00000196459 ENSG00000196459 HGNC:23068 TRAPPC4 gene TRAPPC4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy, OMIM:618741 33011761;32125366;31794024 False 3 100;0;0 6.447 False ENSG00000196655 ENSG00000196655 HGNC:19943 TRAPPC6B gene TRAPPC6B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TRAPPC6B-related neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy;MONDO:0060640;OMIM:617862.0 31687267;40350395;37713627;28626029 False 3 100;0;0 6.447 False ENSG00000182400 ENSG00000182400 HGNC:23066 TRAPPC9 gene TRAPPC9 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 13 613192 20004764;20004763;17120046;22549410 False 3 50;50;0 6.447 False ENSG00000167632 ENSG00000167632 HGNC:30832 TREX1 gene TREX1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE 225750 17357087;16845398 False 3 50;50;0 6.447 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM32 gene TRIM32 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 11 209900;LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H 254110 11822024;17994549;16606853 False 3 50;50;0 6.447 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MULIBREY NANISM 213300 False 3 50;50;0 6.447 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIM71 gene TRIM71 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRIM71-related neurodevelopmental disorder with ventriculomegaly and hydrocephalus;hydrocephalus, congenital communicating, 1, MONDO:0032862;Hydrocephalus, congenital communicating, 1, OMIM:618667 38833623 False 3 100;0;0 6.447 False ENSG00000206557 ENSG00000206557 HGNC:32669 TRIM8 gene TRIM8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRIM8-related neurodevelopmental disorder 32531461;30244534;27346735;33508234 False 3 100;0;0 6.447 False ENSG00000171206 ENSG00000171206 HGNC:15579 TRIO gene TRIO DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 27418539;28796471;32109419;26235986;28928363 False 3 50;50;0 6.447 False ENSG00000038382 ENSG00000038382 HGNC:12303 TRIP11 gene TRIP11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ACHONDROGENESIS TYPE 1A 200600 20089971 False 3 50;50;0 6.447 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRIP12 gene TRIP12 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRIP12-related intellectual disability with/without autism spectrum disorder 27848077;31814248;28251352;36747006 False 3 50;50;0 6.447 False ENSG00000153827 ENSG00000153827 HGNC:12306 TRIP13 gene TRIP13 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mosaic Variegated Aneuploidy and Wilms Tumour 28553959 False 3 50;50;0 6.447 False ENSG00000071539 ENSG00000071539 HGNC:12307 TRIP4 gene TRIP4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures 26924529 False 3 50;50;0 6.447 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRMT10A gene TRMT10A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302 26526202;25053765;24204302;26535115 False 3 100;0;0 6.447 False ENSG00000145331 ENSG00000145331 HGNC:28403 TRMT10C gene TRMT10C DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies 27132592 False 3 50;50;0 6.447 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRNT1 gene TRNT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa and erythrocytic microcytosis, OMIM:616959 25193871;29170023;27370603;32592741;33936027;27389523;32181284;26494905;33843817;30758723 False 3 100;0;0 6.447 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM1 gene TRPM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C 613216 19878917;20300565;19896113;19896109 False 3 50;50;0 6.447 False ENSG00000134160 ENSG00000134160 HGNC:7146 TRPM3 gene TRPM3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRPM3-related developmental disorder (monoallelic) 36648066;32439617;34438093;35146895;31278393 False 3 100;0;0 6.447 False ENSG00000083067 ENSG00000083067 HGNC:17992 TRPS1 gene TRPS1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRICHO-RHINO-PHALANGEAL SYNDROME TYPE 1 190350 14560312;11359471;10615131 False 3 50;50;0 6.447 False ENSG00000104447 ENSG00000104447 HGNC:12340 TRPV3 gene TRPV3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OLMSTED SYNDROME 614594 22405088 False 3 50;50;0 6.447 False ENSG00000167723 ENSG00000167723 HGNC:18084 TRPV4 gene TRPV4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown METATROPIC DYSPLASIA 156530;SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE 184252 20425821;19232556;20577006;21964829 False 3 50;50;0 6.447 False ENSG00000111199 ENSG00000111199 HGNC:18083 TRPV6 gene TRPV6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Transient Neonatal Hyperparathyroidism 29861107 False 3 50;50;0 6.447 False ENSG00000165125 ENSG00000165125 HGNC:14006 TRRAP gene TRRAP DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autism and Syndromic Intellectual Disability 30827496 False 3 50;50;0 6.447 False ENSG00000196367 ENSG00000196367 HGNC:12347 TSC1 gene TSC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TUBEROUS SCLEROSIS TYPE 1 191100 9242607;10823953;10340649;18830229;10053179 False 3 50;50;0 6.447 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TUBEROUS SCLEROSIS TYPE 2 613254;LYMPHANGIOLEIOMYOMATOSIS 606690 11403047;9302281;12752578;19259131;10206124;9463313;8824881;10069705;17120248;9361032;8825048;8634701;7581393 False 3 50;50;0 6.447 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN15 gene TSEN15 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia and Progressive Microcephaly 27392077 False 3 50;50;0 6.447 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN2 gene TSEN2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 False 3 50;50;0 6.447 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 False 3 50;50;0 6.447 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4 316970 34085948 False 3 50;50;0 6.447 False ENSG00000182173 ENSG00000182173 HGNC:27561 TSHB gene TSHB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4 275100 2792087 False 3 50;50;0 6.447 False ENSG00000134200 ENSG00000134200 HGNC:12372 TSHR gene TSHR DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal HYPERTHYROIDISM, FAMILIAL GESTATIONAL 603373;HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 275200 9100579;9589691;7528344;9329388;9185526;8954020;11095460;12050212;10720030;9854118 False 3 50;50;0 6.447 False ENSG00000165409 ENSG00000165409 HGNC:12373 TSPAN7 gene TSPAN7 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 58 300210 10655063;10449641 False 3 50;50;0 6.447 False ENSG00000156298 ENSG00000156298 HGNC:11854 TSPEAR gene TSPEAR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TSPEAR-related ectodermal dysplasia and tooth agenesis 34042254;27736875;37009414 False 3 100;0;0 6.447 False ENSG00000175894 ENSG00000175894 HGNC:1268 TTC12 gene TTC12 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TTC12-related Primary Ciliary Dyskinesia 31978331 False 3 100;0;0 6.447 False ENSG00000149292 ENSG00000149292 HGNC:23700 TTC19 gene TTC19 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX III DEFICIENCY 124000 False 3 50;50;0 6.447 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTC25 gene TTC25 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization 27486780 False 3 50;50;0 6.447 False ENSG00000204815 ENSG00000204815 HGNC:25280 TTC37 gene TTC37 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TRICHOHEPATOENTERIC SYNDROME 222470 21120949;20176027 False 3 50;50;0 6.447 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC5 gene TTC5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TTC5-associated neurodevelopmental disorder 32439809 False 3 100;0;0 6.447 False ENSG00000136319 ENSG00000136319 HGNC:19274 TTC7A gene TTC7A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal INTESTINAL ATRESIA, MULTIPLE 243150 23423984 False 3 50;50;0 6.447 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTC8 gene TTC8 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 8 209900;RETINITIS PIGMENTOSA TYPE 51 613464 20451172 False 3 50;50;0 6.447 False ENSG00000165533 ENSG00000165533 HGNC:20087 TTI1 gene TTI1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TTI1-related microcephaly, intellectual disability and ataxia 36724785 False 3 100;0;0 6.447 False ENSG00000101407 ENSG00000101407 HGNC:29029 TTI2 gene TTI2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 3 50;50;0 6.447 False ENSG00000129696 ENSG00000129696 HGNC:26262 TTN gene TTN DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY 611705 31660661;36495114;32778822;29575618;29691892;17444505;35605965;28040389 False 3 50;50;0 6.447 False ENSG00000155657 ENSG00000155657 HGNC:12403 TUBA1A gene TUBA1A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LISSENCEPHALY TYPE 3 611603;INTELLECTUAL DISABILITY 21403111;17218254;18728072;17584854;30016746;33649541;18954413 False 3 50;50;0 6.447 False ENSG00000167552 ENSG00000167552 HGNC:20766 TUBB gene TUBB DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Circumferential Skin Creases Kunze Type 156610;CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 615771 23246003;26637975 False 3 50;50;0 6.447 False ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 615763 24702957 False 3 50;50;0 6.447 False ENSG00000137267 ENSG00000137267 HGNC:12412 TUBB2B gene TUBB2B DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown POLYMICROGYRIA ASYMMETRIC 610031 22333901;19465910 False 3 50;50;0 6.447 False Other ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 600638;CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 614039 20074521;20829227 False 3 50;50;0 6.447 False ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM 23582646 False 3 50;50;0 6.447 False Other ENSG00000104833 ENSG00000104833 HGNC:20774 TUBG1 gene TUBG1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Posteriorly predominant pachygyria and severe microcephaly 23603762 False 3 50;50;0 6.447 False ENSG00000131462 ENSG00000131462 HGNC:12417 TUBGCP2 gene TUBGCP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephaly and Lissencephaly Spectrum Disorders 31630790 False 3 100;0;0 6.447 False ENSG00000130640 ENSG00000130640 HGNC:18599 TUBGCP4 gene TUBGCP4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY. 25817018 False 3 50;50;0 6.447 False ENSG00000137822 ENSG00000137822 HGNC:16691 TUBGCP6 gene TUBGCP6 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION 251270 22279524 False 3 50;50;0 6.447 False ENSG00000128159 ENSG00000128159 HGNC:18127 TUFM gene TUFM DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 610678 17160893 False 3 50;50;0 6.447 False ENSG00000178952 ENSG00000178952 HGNC:12420 TUSC3 gene TUSC3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 611093 21739581;18455129 False 3 50;50;0 6.447 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWIST1 gene TWIST1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRANIOSYNOSTOSIS, TYPE 1 123100;SAETHRE-CHOTZEN SYNDROME 101400 17343269;8988166;8988167;9259286 False 3 50;50;0 6.447 False ENSG00000122691 ENSG00000122691 HGNC:12428 TWIST2 gene TWIST2 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal SETLEIS SYNDROME, OMIM:227260;ABLEPHARON MACROSTOMIA SYNDROME, OMIM:200110 14069095;26119818;21931173;8818454 False 3 100;0;0 6.447 False ENSG00000233608 ENSG00000233608 HGNC:20670 TXNL4A gene TXNL4A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BURN MCKEOWN SYNDROME 608572 25434003 False 3 50;50;0 6.447 False ENSG00000141759 ENSG00000141759 HGNC:30551 TYR gene TYR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OCULOCUTANEOUS ALBINISM TYPE 1 203100 8477259;30679655;1970634;2511845;3081286;28667292 False 3 50;50;0 6.447 False ENSG00000077498 ENSG00000077498 HGNC:12442 TYRP1 gene TYRP1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OCULOCUTANEOUS ALBINISM TYPE 3 203290 15996218;8651291;19533799;16704458 False 3 50;50;0 6.447 False ENSG00000107165 ENSG00000107165 HGNC:12450 U2AF2 gene U2AF2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown U2AF2-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000063244 ENSG00000063244 HGNC:23156 UBA2 gene UBA2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UBA2-related congenital anomalies with or without aplasia cutis congenita and ectrodactyly and variable developmental delay, OMIM:619959 31587267;28110515;34040189;37221169;32758660;31332306;34159400;39149811 False 3 100;0;0 6.447 False ENSG00000126261 ENSG00000126261 HGNC:30661 UBA5 gene UBA5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe Infantile-Onset Encephalopathy 27545681;27545674 False 3 50;50;0 6.447 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP2L gene UBAP2L DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UBAP2L-associated neurodevelopmental disorder 35977029 False 3 100;0;0 6.447 False ENSG00000143569 ENSG00000143569 HGNC:29877 UBE2A gene UBE2A DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION 319562 False 3 50;50;0 6.447 False ENSG00000077721 ENSG00000077721 HGNC:12472 UBE2T gene UBE2T DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FANCONI ANEMIA, COMPLEMENTATION GROUP T 616435 26046368 False 3 50;50;0 6.447 False ENSG00000077152 ENSG00000077152 HGNC:25009 UBE3A gene UBE3A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) ANGELMAN SYNDROME 105830 1338769;7905534;8988171 False 3 50;50;0 6.447 False ENSG00000114062 ENSG00000114062 HGNC:12496 UBE3B gene UBE3B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BLEPHAROPHIMOSIS-MENTAL RETARDATION 615057 23200864;21567902 False 3 50;50;0 6.447 False ENSG00000151148 ENSG00000151148 HGNC:13478 UBE4A gene UBE4A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UBE4A-associated neurodevelopmental disorder 33420346 False 3 100;0;0 6.447 False ENSG00000110344 ENSG00000110344 HGNC:12499 UBR1 gene UBR1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JOHANSON-BLIZZARD SYNDROME 243800 19006206;16311597;18553553 False 3 50;50;0 6.447 False ENSG00000159459 ENSG00000159459 HGNC:16808 UBR5 gene UBR5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UBR5-related neurodevelopmental disorder;MONDO:0700092 39721588 False 3 100;0;0 6.447 False ENSG00000104517 ENSG00000104517 HGNC:16806 UBR7 gene UBR7 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992;36757286;33340455 False 3 50;50;0 6.447 False ENSG00000012963 ENSG00000012963 HGNC:20344 UBTF gene UBTF DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Childhood-Onset Neurodegeneration 28777933 False 3 50;50;0 6.447 False Other ENSG00000108312 ENSG00000108312 HGNC:12511 UFC1 gene UFC1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe early-onset encephalopathy with progressive microcephaly 29868776 False 3 50;50;0 6.447 False ENSG00000143222 ENSG00000143222 HGNC:26941 UFM1 gene UFM1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe early-onset encephalopathy with progressive microcephaly, 29868776 False 3 50;50;0 6.447 False ENSG00000120686 ENSG00000120686 HGNC:20597 UGGT1 gene UGGT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment;MONDO:0015286 40267907 False 3 100;0;0 6.447 False ENSG00000136731 ENSG00000136731 HGNC:15663 UGP2 gene UGP2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UGP2 Epileptic Encephalopathy 31820119 False 3 100;0;0 6.447 False ENSG00000169764 ENSG00000169764 HGNC:12527 UGT1A1 gene UGT1A1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRIGLER-NAJJAR SYNDROME, TYPE I 218800 9497253;9295054;11968090;9039987 False 3 50;50;0 6.447 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMPS gene UMPS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OROTIC ACIDURIA TYPE 1 258900 9042911 False 3 50;50;0 6.447 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13A gene UNC13A DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal UNC13A-related congenital epileptic encephalopathy and severe neuromuscular disorder;MONDO:0100038;UNC13A-related neurodevelopmental disorder with ataxia and tremor or dyskinetic movements 41125872;27648472;28192369;36447687 False 3 100;0;0 6.447 False ENSG00000130477 ENSG00000130477 HGNC:23150 UNC45A gene UNC45A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Osteootohepatoenteric syndrome 35575086 False 3 100;0;0 6.447 False ENSG00000140553 ENSG00000140553 HGNC:30594 UNC45B gene UNC45B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UNC45B-associated Progressive Myopathy with Eccentric Cores 33217308 False 3 100;0;0 6.447 False ENSG00000141161 ENSG00000141161 HGNC:14304 UNC80 gene UNC80 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability 26708753;26708751 False 3 50;50;0 6.447 False ENSG00000144406 ENSG00000144406 HGNC:26582 UPF1 gene UPF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UPF1-related developmental disorder (monoallelic) 33057194 False 3 100;0;0 6.447 False ENSG00000005007 ENSG00000005007 HGNC:9962 UPF3B gene UPF3B DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14 300676 17704778 False 3 50;50;0 6.447 False ENSG00000125351 ENSG00000125351 HGNC:20439 UQCRB gene UQCRB DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED 257827 False 3 50;50;0 6.447 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRFS1 gene UQCRFS1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis 31883641 False 3 100;0;0 6.447 False ENSG00000169021 ENSG00000169021 HGNC:12587 UQCRQ gene UQCRQ DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRQ RELATED 319211 False 3 50;50;0 6.447 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROS gene UROS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL ERYTHROPOIETIC PORPHYRIA 263700 8946173;19965637;7860775;2331520;12060141;1733834;11254675;9834209 False 3 50;50;0 6.447 False ENSG00000188690 ENSG00000188690 HGNC:12592 USB1 gene USB1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia 25044170;23393019;23190533 False 3 50;50;0 6.447 False ENSG00000103005 ENSG00000103005 HGNC:25792 USP14 gene USP14 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal USP14-related syndromic neurodevelopmental disorder with arthrogryposis 38469793;35066879 False 3 100;0;0 6.447 False ENSG00000101557 ENSG00000101557 HGNC:12612 USP18 gene USP18 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Severe pseudo-TORCH syndrome 27325888 False 3 50;50;0 6.447 False ENSG00000184979 ENSG00000184979 HGNC:12616 USP27X gene USP27X DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 25644381 False 3 50;50;0 6.447 False ENSG00000242013 ENSG00000273820 HGNC:13486 USP7 gene USP7 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown USP7-related developmental disorder (monoallelic) 30679821;26365382 False 3 50;50;0 6.447 False ENSG00000187555 ENSG00000187555 HGNC:12630 USP9X gene USP9X DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MENTAL RETARDATION, X-LINKED 99 300919 24607389;31443933;26833328 False 3 50;50;0 6.447 False ENSG00000124486 ENSG00000124486 HGNC:12632 UVSSA gene UVSSA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal UV-SENSITIVE SYNDROME 609413 False 3 50;50;0 6.447 False ENSG00000163945 ENSG00000163945 HGNC:29304 VAMP2 gene VAMP2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 616579 30929742 False 3 50;50;0 6.447 False ENSG00000220205 ENSG00000220205 HGNC:12643 VDR gene VDR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal RICKETS VITAMIN D-DEPENDENT TYPE 2A 277440 3024987;9005998;9360557;11564167;2557627;2177843;17970811;2558018;2849209;8675579;8392085;8961271 False 3 50;50;0 6.447 False ENSG00000111424 ENSG00000111424 HGNC:12679 VIPAS39 gene VIPAS39 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 613404 False 3 50;50;0 6.447 False ENSG00000151445 ENSG00000151445 HGNC:20347 VLDLR gene VLDLR DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA MENTAL RETARDATION AND DYSEQUILIBRIUM SYNDROME TYPE 1 224050 34085948;18326629;18043714;16080122 False 3 50;50;0 6.447 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13B gene VPS13B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal COHEN SYNDROME 193538 31580008 False 3 50;50;0 6.447 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS33B gene VPS33B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 319164 False 3 50;50;0 6.447 False ENSG00000184056 ENSG00000184056 HGNC:12712 VPS4A gene VPS4A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CIMDAG Syndrome, biallelic;CIMDAG Syndrome, monoallelic 33186543;33186545 False 3 100;0;0 6.447 False ENSG00000132612 ENSG00000132612 HGNC:13488 VPS53 gene VPS53 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Progressive cerebella-cerebral atrophy type 2 30100179;24577744 False 3 50;50;0 6.447 False ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PONTOCEREBELLAR HYPOPLASIA TYPE 1 607596 21937992;19646678 False 3 50;50;0 6.447 False ENSG00000100749 ENSG00000100749 HGNC:12718 VSX2 gene VSX2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROPHTHALMIA ISOLATED TYPE 2 610093;MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3 610092;MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES 610092 False 3 50;50;0 6.447 False ENSG00000119614 ENSG00000119614 HGNC:1975 WAC gene WAC DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY;WAC syndrome 26264232;26757981;35018708 False 3 50;50;0 6.447 False ENSG00000095787 ENSG00000095787 HGNC:17327 WARS gene WARS DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WARS1-associated neurodevelopmental syndrome;Distal hereditary motor neuropathy 28369220;31321409;31069783;35815345 False 3 100;0;0 6.447 False ENSG00000140105 ENSG00000140105 HGNC:12729 WASF1 gene WASF1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability with Seizures 29961568 False 3 50;50;0 6.447 False ENSG00000112290 ENSG00000112290 HGNC:12732 WASHC5 gene WASHC5 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210 24065355 False 3 100;0;0 6.447 False ENSG00000164961 ENSG00000164961 HGNC:28984 WBP4 gene WBP4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0971043;WBP4-related neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities 37963460 False 3 100;0;0 6.447 False ENSG00000120688 ENSG00000120688 HGNC:12739 WDFY3 gene WDFY3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primary Microcephaly or macrocephaly with developmental delay 31327001 False 3 50;50;0 6.447 False ENSG00000163625 ENSG00000163625 HGNC:20751 WDPCP gene WDPCP DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal BARDET-BIEDL SYNDROME TYPE 15 209900 False 3 50;50;0 6.447 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR11 gene WDR11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal KALLMANN SYNDROME 34413497 False 3 50;50;0 6.447 False ENSG00000120008 ENSG00000120008 HGNC:13831 WDR19 gene WDR19 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOECTODERMAL DYSPLASIA 4 614378;ASPHYXIATING THORACIC DYSTROPHY 5 614376 19430947;22019273 False 3 50;50;0 6.447 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR26 gene WDR26 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features 28686853 False 3 50;50;0 6.447 False ENSG00000162923 ENSG00000162923 HGNC:21208 WDR34 gene WDR34 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SHORT-RIB POLYDACTYLY SYNDROME TYPE III;SEVERE ASPHYXIATING THORACIC DYSPLASIA 24183449 False 3 50;50;0 6.447 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOECTODERMAL DYSPLASIA 2 613610;SHORT RIB-POLYDACTYLY SYNDROME, TYPE V 614091 21473986;35875935;20817137 False 3 50;50;0 6.447 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR37 gene WDR37 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNDROMIC INTELLECTUAL DISABILITY 612100 31327508;31327510 False 3 50;50;0 6.447 False ENSG00000047056 ENSG00000047056 HGNC:31406 WDR44 gene WDR44 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MONDO:0005308;WDR44-related ciliopathy 38191484 False 3 100;0;0 6.447 False Other ENSG00000131725 ENSG00000131725 HGNC:30512 WDR45 gene WDR45 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 30612247;28932395;28371320;30713886;30539914;23176820;29981852;26609730;28551038;31466010;27030146;26790960;26240209;28361255;29171013;29082105;29681108;29600274;26022463;27957548;27681470 False 3 50;50;0 6.447 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45B gene WDR45B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 28503735;35322404;21937992 False 3 50;50;0 6.447 False ENSG00000141580 ENSG00000141580 HGNC:25072 WDR5 gene WDR5 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WDR5-related neurodevelopmental disorder 36408368 False 3 100;0;0 6.447 False ENSG00000196363 ENSG00000196363 HGNC:12757 WDR60 gene WDR60 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal JEUNE SYNDROMES;SHORT-RIB POLYDACTYLY 23910462 False 3 50;50;0 6.447 False ENSG00000126870 ENSG00000126870 HGNC:21862 WDR62 gene WDR62 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317 20890279;20890278;20729831;21834044;10573015 False 3 50;50;0 6.447 False ENSG00000075702 ENSG00000075702 HGNC:24502 WDR73 gene WDR73 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME: MICROCEPHALY AND STEROID-RESISTANT NEPHROTIC SYNDROME 25466283 False 3 50;50;0 6.447 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR83OS gene WDR83OS DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with variable familial hypercholanemia, MONDO:0975877;WDR83OS-related neurodevelopmental disorder with hypercholanemia 39471804;30250217 False 3 100;0;0 6.447 False ENSG00000105583 ENSG00000105583 HGNC:30203 WFS1 gene WFS1 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram-like syndrome, autosomal dominant, OMIM:614296;WOLFRAM SYNDROME 1, OMIM:222300 21067485;25390390;17568405;22311385;22226368;10521293;23373429;15605410;18806274;14724730;21726277;11295831;15151504;18544103;16442662;21823543;21564155;15503287;11161832;22781099;19042979;15277431;16648378;12107816;21623591;15070927;22238590;21446023;19160074;23103830;21538838;21968327;21602428;9771706;12707373;11317648;16151413;20069065;18660851;20875904;16459465 False 3 100;0;0 6.447 False ENSG00000109501 ENSG00000109501 HGNC:12762 WIPI2 gene WIPI2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum;OMIM:618453.0;MONDO:0032759 30968111;34557665 False 3 100;0;0 6.447 False ENSG00000157954 ENSG00000157954 HGNC:32225 WNK3 gene WNK3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females WNK3-related neurodevelopmental disorder;Prieto syndrome, OMIM:309610 35678782 False 3 100;0;0 6.447 False ENSG00000196632 ENSG00000196632 HGNC:14543 WNT1 gene WNT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal OSTEOGENESIS IMPERFECTA 23499309 False 3 50;50;0 6.447 False ENSG00000125084 ENSG00000125084 HGNC:12774 WNT10B gene WNT10B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal Split-hand/foot malformation 6, OMIM:225300 20635353;12072797 False 3 50;50;0 6.447 False ENSG00000169884 ENSG00000169884 HGNC:12775 WNT3 gene WNT3 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal TETRA-AMELIA SYNDROME 276069 14872406 False 3 50;50;0 6.447 False ENSG00000108379 ENSG00000108379 HGNC:12782 WNT4 gene WNT4 DD-Gene2Phenotype;Expert Review Green DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal MULLERIAN APLASIA AND HYPERANDROGENISM 158330;SERKAL SYNDROME 611812 18179883;15317892 False 3 50;50;0 6.447 False ENSG00000162552 ENSG00000162552 HGNC:12783 WNT5A gene WNT5A DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WNT5A-RELATED ROBINOW SYNDROME, AUTOSOMAL DOMINANT 180700 19918918;5771504 False 3 50;50;0 6.447 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal FUHRMANN SYNDROME 228930;LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME 276820 9128926;20949531;21344627;21271649;16826533 False 3 50;50;0 6.447 False ENSG00000154764 ENSG00000154764 HGNC:12786 WNT7B gene WNT7B DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WNT7B-related PDAC syndrome 35790350 False 3 100;0;0 6.447 False ENSG00000188064 ENSG00000188064 HGNC:12787 WRAP53 gene WRAP53 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal WRAP53-related dyskeratosis congenita, OMIM:613988 34599657;29514627;21205863;32303682 False 3 50;50;0 6.447 False ENSG00000141499 ENSG00000141499 HGNC:25522 WT1 gene WT1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENYS-DRASH SYNDROME 194080;FRASIER SYNDROME FRASIER SYNDROME FRASIER SYNDROME 136680 8388765;1302008;10571943;1327525;9499425;1658787;1655284 False 3 50;50;0 6.447 False Other ENSG00000184937 ENSG00000184937 HGNC:12796 WWOX gene WWOX DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 614322;EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 616211 24369382;24456803 False 3 50;50;0 6.447 False ENSG00000186153 ENSG00000186153 HGNC:12799 XPA gene XPA DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, GROUP A 278700 16098033;1339397;2234061;10767341;1372102 False 3 50;50;0 6.447 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal XERODERMA PIGMENTOSUM, GROUP C 278720 14662655;8298653;11511294;19478817;9804340;11121128 False 3 50;50;0 6.447 False ENSG00000154767 ENSG00000154767 HGNC:12816 XPO1 gene XPO1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown XPO1-related neurodevelopmental disorder with microcephaly 36807877;40819229 False 3 100;0;0 6.447 False ENSG00000082898 ENSG00000082898 HGNC:12825 XRCC4 gene XRCC4 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMORDIAL DWARFISM 615272 25728776 False 3 50;50;0 6.447 False ENSG00000152422 ENSG00000152422 HGNC:12831 XYLT1 gene XYLT1 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal XYLT1-related Desbuquois dysplasia, OMIM:615777 35081921;23982343;24581741;30554721 False 3 67;33;0 6.447 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPONDYLOOCULAR SYNDROME 605822 26987875;28884924;26027496;29136277 False 3 50;50;0 6.447 False ENSG00000015532 ENSG00000015532 HGNC:15517 YAP1 gene YAP1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION 120433 24462371;27267789 False 3 50;50;0 6.447 False ENSG00000137693 ENSG00000137693 HGNC:16262 YARS2 gene YARS2 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, OMIM:613561 23918765;30026338;20598274 False 3 100;0;0 6.447 False ENSG00000139131 ENSG00000139131 HGNC:24249 YRDC gene YRDC DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal YRDC-associated nephrotic syndrome and microcephaly 31481669;34545459 False 3 100;0;0 6.447 False ENSG00000196449 ENSG00000196449 HGNC:28905 YWHAE gene YWHAE DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown YWHAE-related developmental delay, seizures, hypotonia and brain abnormalities 36999555 False 3 100;0;0 6.447 False ENSG00000108953 ENSG00000108953 HGNC:12851 YWHAG gene YWHAG DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early-Onset Epilepsy 28777935 False 3 50;50;0 6.447 False Other ENSG00000170027 ENSG00000170027 HGNC:12852 YY1 gene YY1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY, OMIM:616579 28575647;21076407 False 3 50;50;0 6.447 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZBTB11 gene ZBTB11 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZBTB11-related neurodevelopmental disorder with or without cataracts and movement disorder 31130284;35104841;36068688;29893856;38899514 False 3 100;0;0 6.447 False ENSG00000066422 ENSG00000066422 HGNC:16740 ZBTB18 gene ZBTB18 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZBTB18 syndrome False 3 50;50;0 6.447 False ENSG00000179456 ENSG00000179456 HGNC:13030 ZBTB20 gene ZBTB20 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PRIMROSE SYNDROME 259050 25017102 False 3 50;50;0 6.447 False Other ENSG00000181722 ENSG00000181722 HGNC:13503 ZC4H2 gene ZC4H2 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY 314580 4039531;1915520;31206972;36250278;23623388 False 3 50;50;0 6.447 False ENSG00000126970 ENSG00000126970 HGNC:24931 ZDHHC9 gene ZDHHC9 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Raymond type, OMIM:300799 26000327;17436253 False 3 50;50;0 6.447 False ENSG00000188706 ENSG00000188706 HGNC:18475 ZEB2 gene ZEB2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MOWAT-WILSON SYNDROME 235730 11595972;16532472;9719364;16688751;11891681;11592033;12920073;12451214;16088920;11279515 False 3 50;50;0 6.447 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZFHX3 gene ZFHX3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZFHX3-related developmental disorder (monoallelic) 32502225;30809043 False 3 100;0;0 6.447 False ENSG00000140836 ENSG00000140836 HGNC:777 ZFHX4 gene ZFHX4 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZFHX4-related developmental disorder (monoallelic) 11935336;33057194 False 3 100;0;0 6.447 False ENSG00000091656 ENSG00000091656 HGNC:30939 ZFP57 gene ZFP57 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL 601410 18622393 False 3 50;50;0 6.447 False ENSG00000204644 ENSG00000204644 HGNC:18791 ZFX gene ZFX DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ZFX-related neurodevelopmental disorder with hypotonia, congenital anomalies and facial dysmorphism with or without hyperparathyroidism 38325380 False 3 100;0;0 6.447 False ENSG00000005889 ENSG00000005889 HGNC:12869 ZFYVE19 gene ZFYVE19 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZFYVE19-related congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis 32737136;33853651 False 3 100;0;0 6.447 False ENSG00000166140 ENSG00000166140 HGNC:20758 ZFYVE26 gene ZFYVE26 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal SPASTIC PARAPLEGIA AUTOSOMAL RECESSIVE TYPE 15 270700 18098276;11342696;19805727;17661097 False 3 50;50;0 6.447 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZIC1 gene ZIC1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CRANIOSYNOSTOSIS 6 616602 26340333 False 3 50;50;0 6.447 False Other ENSG00000152977 ENSG00000152977 HGNC:12872 ZIC2 gene ZIC2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY 609637 9771712;11479728;21638761 False 3 50;50;0 6.447 False ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS 319683;HETEROTAXY SYNDROME 207574 False 3 50;50;0 6.447 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMIZ1 gene ZMIZ1 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic Neurodevelopmental Disorder 30639322 False 3 50;50;0 6.447 False ENSG00000108175 ENSG00000108175 HGNC:16493 ZMPSTE24 gene ZMPSTE24 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY 608612;LETHAL RESTRICTIVE DERMOPATHY, ZMPSTE24-RELATED 319186 12913070 False 3 50;50;0 6.447 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZMYM2 gene ZMYM2 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZMYM2-related developmental disorder (monoallelic) 32891193 False 3 100;0;0 6.447 False ENSG00000121741 ENSG00000121741 HGNC:12989 ZMYM3 gene ZMYM3 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ZMYM3-related neurodevelopmental disorder 36586412 False 3 100;0;0 6.447 False ENSG00000147130 ENSG00000147130 HGNC:13054 ZMYND10 gene ZMYND10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY CILIARY DYSKINESIA-22 615444 23891471 False 3 50;50;0 6.447 False ENSG00000004838 ENSG00000004838 HGNC:19412 ZMYND11 gene ZMYND11 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 27626064;25281490;25217958 False 3 50;50;0 6.447 False ENSG00000015171 ENSG00000015171 HGNC:16966 ZMYND8 gene ZMYND8 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZMYND8-related neurodevelopmental disorder 35916866 False 3 100;0;0 6.447 False ENSG00000101040 ENSG00000101040 HGNC:9397 ZNF142 gene ZNF142 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZNF142-related neurodevelopmental disorder, OMIM:618425 31036918;35616059 False 3 100;0;0 6.447 False ENSG00000115568 ENSG00000115568 HGNC:12927 ZNF148 gene ZNF148 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZNF148-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000163848 ENSG00000163848 HGNC:12933 ZNF292 gene ZNF292 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZNF292-related developmental disorder (monoallelic) False 3 100;0;0 6.447 False ENSG00000188994 ENSG00000188994 HGNC:18410 ZNF335 gene ZNF335 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal MONDO:0014043;ZNF335-related microcephaly, epilepsy, cerebral and/or cerebellar atrophy and short stature;OMIM:615095.0 38549403;27540107;29652087;23178126;40583037;33216650;34982360;31187448 False 3 100;0;0 6.447 False ENSG00000198026 ENSG00000198026 HGNC:15807 ZNF462 gene ZNF462 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay 28513610 False 3 50;50;0 6.447 False ENSG00000148143 ENSG00000148143 HGNC:21684 ZNF699 gene ZNF699 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZNF699-related developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalities (DEGCAGS syndrome), OMIM:619488 34374989;39424669;35205213;33875846;36801247 False 3 100;0;0 6.447 False ENSG00000196110 ENSG00000196110 HGNC:24750 ZNF711 gene ZNF711 DD-Gene2Phenotype;Expert Review Green DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED ZNF711-RELATED 300803 19377476 False 3 50;50;0 6.447 False ENSG00000147180 ENSG00000147180 HGNC:13128 ZNF750 gene ZNF750 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS 610227 16751772 False 3 50;50;0 6.447 False ENSG00000141579 ENSG00000141579 HGNC:25843 ZNF808 gene ZNF808 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZNF808-related pancreatic agenesis 37308312;37973953 False 3 100;0;0 6.447 False ENSG00000198482 ENSG00000198482 HGNC:33230 ZNRF3 gene ZNRF3 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZNRF3-related neurodevelopmental disorder with macrocephaly;MONDO:0100038 39168120 False 3 100;0;0 6.447 False Other ENSG00000183579 ENSG00000183579 HGNC:18126 ZSCAN10 gene ZSCAN10 DD-Gene2Phenotype;Expert Review Green DDG2P BIALLELIC, autosomal or pseudoautosomal ZSCAN10-related neurodevelopmental disorder with oto-facial malformations 38386308 False 3 100;0;0 6.447 False ENSG00000130182 ENSG00000130182 HGNC:12997 ZSWIM6 gene ZSWIM6 DD-Gene2Phenotype;Expert Review Green DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACROMELIC FRONTONASAL DYSOSTOSIS 603671 25105228 False 3 50;50;0 6.447 False Other ENSG00000130449 ENSG00000130449 HGNC:29316 ABCB6 gene ABCB6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497 22226084 False 1 0;50;50 6.447 False ENSG00000115657 ENSG00000115657 HGNC:47 ACVR2B gene ACVR2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HETEROTAXY SYNDROME 207574 False 1 0;50;50 6.447 False ENSG00000114739 ENSG00000114739 HGNC:174 ADARB1 gene ADARB1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ADARB1-associated Microcephaly, Intellectual Disability, and Seizures 32220291 False 1 0;0;100 6.447 False ENSG00000197381 ENSG00000197381 HGNC:226 ADK gene ADK DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000156110 ENSG00000156110 HGNC:257 ADRA2B gene ADRA2B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000222040 ENSG00000274286 HGNC:282 AGPAT3 gene AGPAT3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AGPAT3-related intellectual disability and retinitis pigmentosa 37821758 False 1 0;0;100 6.447 False ENSG00000160216 ENSG00000160216 HGNC:326 ALAD gene ALAD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ACUTE HEPATIC PORPHYRIA 612740 2063868 False 1 0;50;50 6.447 False ENSG00000148218 ENSG00000148218 HGNC:395 ANGPT2 gene ANGPT2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ANGPT2-related non-immune hydrops fetalis 34876502 False 1 0;0;100 6.447 False ENSG00000091879 ENSG00000091879 HGNC:485 ANK2 gene ANK2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANK2-related neurodevelopmental disorder 25356970;30755392;22542183;28191889 False 1 0;0;100 6.447 False ENSG00000145362 ENSG00000145362 HGNC:493 ANO1 gene ANO1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ANO1-associated intestinal disease 32487539 False 1 0;0;100 6.447 False ENSG00000131620 ENSG00000131620 HGNC:21625 ANO3 gene ANO3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ANO3-related dystonia, OMIM:615034 38079528;33502045 False 1 0;0;100 6.447 False ENSG00000134343 ENSG00000134343 HGNC:14004 ARHGEF6 gene ARHGEF6 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 46 300436 False 1 0;50;50 6.447 False ENSG00000129675 ENSG00000129675 HGNC:685 ARL14EP gene ARL14EP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000152219 ENSG00000152219 HGNC:26798 ARNT2 gene ARNT2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ARNT2-associated hypopituitarism, post-natal microcephaly, visual and renal anomalies, OMIM:615926 24022475 False 1 0;0;100 6.447 False ENSG00000172379 ENSG00000172379 HGNC:16876 ASCC1 gene ASCC1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures 35838082;26924529 False 1 33;33;33 6.447 False ENSG00000138303 ENSG00000138303 HGNC:24268 ASCC3 gene ASCC3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 21937992 False 1 0;50;50 6.447 False ENSG00000112249 ENSG00000112249 HGNC:18697 ASCL1 gene ASCL1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000139352 ENSG00000139352 HGNC:738 ATG4D gene ATG4D DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ATG4D-related neurodevelopmental disorder 36765070 False 1 0;0;100 6.447 False ENSG00000130734 ENSG00000130734 HGNC:20789 ATP6AP2 gene ATP6AP2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423 False 1 0;50;50 6.447 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATP8A2 gene ATP8A2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4 615268 16075202;22892528 False 1 0;50;50 6.447 False ENSG00000132932 ENSG00000132932 HGNC:13533 AXIN1 gene AXIN1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAUDAL DUPLICATION ANOMALY, OMIM:607864 False 1 0;50;50 6.447 False ENSG00000103126 ENSG00000103126 HGNC:903 B3GAT3 gene B3GAT3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600 31438591 False 1 0;50;50 6.447 False ENSG00000149541 ENSG00000149541 HGNC:923 BAZ2B gene BAZ2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown BAZ2B-associated neurodevelopmental disorder 31999386 False 1 0;0;100 6.447 False ENSG00000123636 ENSG00000123636 HGNC:963 BCORL1 gene BCORL1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Shukla-Vernon Syndrome 30941876;33810051;34400773;24123876 False 1 0;0;100 6.447 False ENSG00000085185 ENSG00000085185 HGNC:25657 BSN gene BSN DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal BSN-related epilepsy 36600631 False 1 0;0;100 6.447 False ENSG00000164061 ENSG00000164061 HGNC:1117 CACNA1H gene CACNA1H DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942 False 1 0;50;50 6.447 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA2D1 gene CACNA2D1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CACNA2D1-related neurodevelopmental disorder 35293990 False 1 0;0;100 6.447 False ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB4 gene CACNB4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown JUVENILE MYOCLONIC EPILEPSY, OMIM:611136 10762541 False 1 0;50;50 6.447 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAPN10 gene CAPN10 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000142330 ENSG00000142330 HGNC:1477 CAV1 gene CAV1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL GENERALIZED LIPODYSTROPHY TYPE 3 612526 False 1 0;50;50 6.447 False ENSG00000105974 ENSG00000105974 HGNC:1527 CCDC78 gene CCDC78 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807 22818856 False 1 0;50;50 6.447 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCNA2 gene CCNA2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000145386 ENSG00000145386 HGNC:1578 CCNK gene CCNK DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism 30122539 False 1 0;67;33 6.447 False ENSG00000090061 ENSG00000090061 HGNC:1596 CCT4 gene CCT4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT4-related neurodevelopmental disorder with brain abnormalities 39480921 False 1 0;0;100 6.447 False ENSG00000115484 ENSG00000115484 HGNC:1617 CCT5 gene CCT5 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT5-related neurodevelopmental disorder with brain abnormalities 39480921 False 1 0;0;100 6.447 False ENSG00000150753 ENSG00000150753 HGNC:1618 CCT7 gene CCT7 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT7-related neurodevelopmental disorder with brain abnormalities 39480921 False 1 0;0;100 6.447 False ENSG00000135624 ENSG00000135624 HGNC:1622 CCT8 gene CCT8 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CCT8-related neurodevelopmental disorder with brain abnormalities False 1 0;0;100 6.447 False ENSG00000156261 ENSG00000156261 HGNC:1623 CD96 gene CD96 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown C SYNDROME 211750 17847009 False 1 0;50;50 6.447 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDC40 gene CDC40 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CDC40-related Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly 33220177 False 1 0;0;100 6.447 False ENSG00000168438 ENSG00000168438 HGNC:17350 CDC42BPB gene CDC42BPB DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDC42BPB-related Neurodevelopmental Disorder 32031333 False 1 0;0;100 6.447 False ENSG00000198752 ENSG00000198752 HGNC:1738 CDH15 gene CDH15 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 3 612580 26506440;19012874 False 1 0;50;50 6.447 False ENSG00000129910 ENSG00000129910 HGNC:1754 CDK10 gene CDK10 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Severe Growth Retardation, Spine Malformations, and Developmental Delays 28886341;29130579 False 1 0;50;50 6.447 False ENSG00000185324 ENSG00000185324 HGNC:1770 CDK16 gene CDK16 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) INTELLECTUAL DISABILITY 25644381;36323681 False 1 0;50;50 6.447 False ENSG00000102225 ENSG00000102225 HGNC:8749 CDO1 gene CDO1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CDO1-related neurodevelopmental disorder 39949058 False 1 0;0;100 6.447 False ENSG00000129596 ENSG00000129596 HGNC:1795 CELSR1 gene CELSR1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CELSR1-related fetal hydrops 38272662 False 1 0;0;100 6.447 False ENSG00000075275 ENSG00000075275 HGNC:1850 CELSR3 gene CELSR3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CELSR3-related neurodevelopmental disorder with or without urinary tract abnormalities;MONDO:0100038 38429302 False 1 0;0;100 6.447 False ENSG00000008300 ENSG00000008300 HGNC:3230 CHD5 gene CHD5 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHD5-associated neurodevelopmental disorder with intellectual disability, speech delay and epilepsy 33944996 False 1 0;0;100 6.447 False ENSG00000116254 ENSG00000116254 HGNC:16816 CHRM1 gene CHRM1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHRM1-associated intellectual disability 34212451 False 1 0;0;100 6.447 False ENSG00000168539 ENSG00000168539 HGNC:1950 CIAO1 gene CIAO1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CIAO1-related neuromuscular disorder with intellectual disability;MONDO:0975806 38950322;38411040 False 1 0;0;100 6.447 False ENSG00000144021 ENSG00000144021 HGNC:14280 CLCNKA gene CLCNKA DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;50;50 6.447 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLDN5 gene CLDN5 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLDN5-related neurodevelopmental disorder 35714222 False 1 0;0;100 6.447 False ENSG00000184113 ENSG00000184113 HGNC:2047 CLDND1 gene CLDND1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLDND1-related leukodystrophy 38493358 False 1 0;0;100 6.447 False ENSG00000080822 ENSG00000080822 HGNC:1322 CLIC2 gene CLIC2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic 32 300886 22814392 False 1 0;50;50 6.447 False ENSG00000155962 ENSG00000155962 HGNC:2063 CNKSR1 gene CNKSR1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000142675 ENSG00000142675 HGNC:19700 COA5 gene COA5 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 1 0;50;50 6.447 False ENSG00000183513 ENSG00000183513 HGNC:33848 COMP gene COMP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1, OMIM:132400 9021009;9463320;12483304;7670472;9887340 False 1 0;50;50 6.447 False Other ENSG00000105664 ENSG00000105664 HGNC:2227 COPB1 gene COPB1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal COPB1-related severe intellectual disability syndrome with cataracts and variable microcephaly 33632302 False 1 0;0;100 6.447 False ENSG00000129083 ENSG00000129083 HGNC:2231 COQ5 gene COQ5 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000110871 ENSG00000110871 HGNC:28722 COX14 gene COX14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MITOCHONDRIAL COMPLEX IV DEFICIENCY 220110 False 1 0;50;50 6.447 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX18 gene COX18 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal COX18-related peripheral neuropathy 38960055;37468577;39006432 False 1 0;0;100 6.447 False ENSG00000163626 ENSG00000163626 HGNC:26801 CRADD gene CRADD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DEVELOPMENTAL DISORDER, autosomal recessive 34, with variant lissencephaly, OMIM:614499 27773430;22279524 False 1 0;50;50 6.447 False ENSG00000169372 ENSG00000169372 HGNC:2340 CRBN gene CRBN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 2A 607417 18414909 False 1 0;50;50 6.447 False ENSG00000113851 ENSG00000113851 HGNC:30185 CRIM1 gene CRIM1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Colobomatous macrophthalmia with microcornea syndrome 25561690 False 1 0;50;50 6.447 False ENSG00000150938 ENSG00000150938 HGNC:2359 CRKL gene CRKL DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Bladder exstrophy plus False 1 0;50;50 6.447 False ENSG00000099942 ENSG00000099942 HGNC:2363 CRLS1 gene CRLS1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CRLS1-related mitochondrial disorder 35147173 False 1 0;0;100 6.447 False ENSG00000088766 ENSG00000088766 HGNC:16148 CSDE1 gene CSDE1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CSDE1-associated intellectual disability and autism 33867523;31579823 False 1 0;0;100 6.447 False ENSG00000009307 ENSG00000009307 HGNC:29905 CSNK1G1 gene CSNK1G1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY AND MICROCEPHALY 24463883 False 1 0;50;50 6.447 False ENSG00000169118 ENSG00000169118 HGNC:2454 CYHR1 gene CYHR1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ZFTRAF1-related neurodevelopmental disorder 38641995 False 1 0;0;100 6.447 False ENSG00000187954 ENSG00000187954 HGNC:17806 CYP24A1 gene CYP24A1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Hereditary 1,25-dihydroxyvitamin D-resistant rickets 27394135 False 1 0;50;50 6.447 False ENSG00000019186 ENSG00000019186 HGNC:2602 D2HGDH gene D2HGDH DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal D-2-HYDROXYGLUTARIC ACIDURIA 1 600721 15609246 False 1 0;50;50 6.447 False ENSG00000180902 ENSG00000180902 HGNC:28358 DACT1 gene DACT1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple malformations of neural tube, ear, genitourinary and gastrointestinal systems 22610794;36066768;28054444 False 1 0;50;50 6.447 False ENSG00000165617 ENSG00000165617 HGNC:17748 DCAF17 gene DCAF17 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal WOODHOUSE-SAKATI SYNDROME 241080 False 1 0;50;50 6.447 False ENSG00000115827 ENSG00000115827 HGNC:25784 DDX54 gene DDX54 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability and Central Nervous System anomalies 31256877 False 1 0;50;50 6.447 False ENSG00000123064 ENSG00000123064 HGNC:20084 DDX58 gene DDX58 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SINGLETON-MERTEN SYNDROME 182250 25620203 False 1 0;50;50 6.447 False ENSG00000107201 ENSG00000107201 HGNC:19102 DENND5B gene DENND5B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DENND5B-related neurodevelopmental disorder with cortical migration and white matter abnormalities 38387458 False 1 0;0;100 6.447 False ENSG00000170456 ENSG00000170456 HGNC:28338 DGAT1 gene DGAT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DIARRHEAL DISORDERS 23114594 False 1 0;50;50 6.447 False ENSG00000185000 ENSG00000185000 HGNC:2843 DHRS3 gene DHRS3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DHRS3 related craniosynostosis False 1 0;50;50 6.447 False ENSG00000162496 ENSG00000162496 HGNC:17693 DHX16 gene DHX16 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Intellectual Disability, Central Nervous System anomalies and Seizures 31256877 False 1 0;50;50 6.447 False ENSG00000204560 ENSG00000204560 HGNC:2739 DHX34 gene DHX34 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal INTELLECTUAL DISABILITY 616579 31256877 False 1 0;50;50 6.447 False ENSG00000134815 ENSG00000134815 HGNC:16719 DHX37 gene DHX37 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Intellectual Disability and Central Nervous System anomalies 31256877 False 1 0;50;50 6.447 False ENSG00000150990 ENSG00000150990 HGNC:17210 DIP2B gene DIP2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION, FRA12A TYPE 136630 17236128 False 1 0;50;50 6.447 False ENSG00000066084 ENSG00000066084 HGNC:29284 DISP1 gene DISP1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HOLOPROSENCEPHALY, OMIM:609637 False 1 0;0;100 6.447 False ENSG00000154309 ENSG00000154309 HGNC:19711 DLG2 gene DLG2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DLG2-related neurodevelopmental disorder 37860969 False 1 0;0;100 6.447 False ENSG00000150672 ENSG00000150672 HGNC:2901 DLG5 gene DLG5 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal DLG5-associated developmental disorder (biallelic);DLG5-associated developmental disorder (monoallelic) 32631816 False 1 0;0;100 6.447 False ENSG00000151208 ENSG00000151208 HGNC:2904 DLX5 gene DLX5 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SPLIT HAND AND FOOT MALFORMATION 220600 22121204 False 1 0;50;50 6.447 False ENSG00000105880 ENSG00000105880 HGNC:2918 DMPK gene DMPK DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900 False 1 33;33;33 6.447 False Other ENSG00000104936 ENSG00000104936 HGNC:2933 DNA2 gene DNA2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMORDIAL DWARFISM SECKEL SYNDROME 8 615807 24389050 False 1 0;50;50 6.447 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAH14 gene DNAH14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DNAH14-related Neurodevelopmental disorder 35438214 False 1 0;0;100 6.447 False ENSG00000185842 ENSG00000185842 HGNC:2945 DNAJB13 gene DNAJB13 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia and Male Infertility 27486783 False 1 0;50;50 6.447 False ENSG00000187726 ENSG00000187726 HGNC:30718 DNAJB4 gene DNAJB4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DNAJB4-related myopathy with early respiratory failure 36264506 False 1 0;0;100 6.447 False ENSG00000162616 ENSG00000162616 HGNC:14886 DOCK4 gene DOCK4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown DOCK4-related neurodevelopmental disorder 38526744 False 1 0;0;100 6.447 False ENSG00000128512 ENSG00000128512 HGNC:19192 DSE gene DSE DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 615539 23704329 False 1 0;50;50 6.447 False ENSG00000111817 ENSG00000111817 HGNC:21144 EEF1B2 gene EEF1B2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000114942 ENSG00000114942 HGNC:3208 EEF2 gene EEF2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EEF2-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000167658 ENSG00000167658 HGNC:3214 EIF2AK1 gene EIF2AK1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EIF2AK1-associated Neurodevelopmental Syndrome 32197074 False 1 0;0;100 6.447 False ENSG00000086232 ENSG00000086232 HGNC:24921 ELFN1 gene ELFN1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ELFN1-related intellectual disability and epilepsy 40576023;34509675;34452636 False 1 50;0;50 6.447 False ENSG00000225968 ENSG00000225968 HGNC:33154 ELP2 gene ELP2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000134759 ENSG00000134759 HGNC:18248 EMX2 gene EMX2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FAMILIAL SCHIZENCEPHALY, EMX2-RELATED 269160 False 1 0;50;50 6.447 False ENSG00000170370 ENSG00000170370 HGNC:3341 ENTPD1 gene ENTPD1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000138185 ENSG00000138185 HGNC:3363 EOMES gene EOMES DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA AND CORPUS CALLOSUM AGENESIS 17353897 False 1 0;50;50 6.447 False ENSG00000163508 ENSG00000163508 HGNC:3372 EPB41L1 gene EPB41L1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 21376300 False 1 0;50;50 6.447 False ENSG00000088367 ENSG00000088367 HGNC:3378 EPHB4 gene EPHB4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Capillary malformation-arteriovenous malformation 2 28687708;29444212 False 1 0;50;50 6.447 False ENSG00000196411 ENSG00000196411 HGNC:3395 ERLIN2 gene ERLIN2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000147475 ENSG00000147475 HGNC:1356 ERMARD gene ERMARD DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PERIVENTRICULAR HETEROTOPIA 24056535 False 1 0;50;50 6.447 False ENSG00000130023 ENSG00000130023 HGNC:21056 EXOSC2 gene EXOSC2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal EXOSC2-associated short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome 36069504;26843489 False 1 0;0;100 6.447 False ENSG00000130713 ENSG00000130713 HGNC:17097 FASN gene FASN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000169710 ENSG00000169710 HGNC:3594 FBLN1 gene FBLN1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES 608180 False 1 0;50;50 6.447 False ENSG00000077942 ENSG00000077942 HGNC:3600 FBXW4 gene FBXW4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560 False 1 0;50;50 6.447 False ENSG00000107829 ENSG00000107829 HGNC:10847 FDFT1 gene FDFT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Defect in Cholesterol Biosynthesis 29909962 False 1 0;50;50 6.447 False ENSG00000079459 ENSG00000079459 HGNC:3629 FEM1C gene FEM1C DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FEM1C-related developmental disorder 36336956 False 1 0;0;100 6.447 False Other ENSG00000145780 ENSG00000145780 HGNC:16933 FICD gene FICD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal FICD-related infancy-onset diabetes and neurodevelopmental disorder 36704923 False 1 0;0;100 6.447 False ENSG00000198855 ENSG00000198855 HGNC:18416 FLG gene FLG DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ICHTHYOSIS VULGARIS 146700 17291859;16444271 False 1 0;50;50 6.447 False ENSG00000143631 ENSG00000143631 HGNC:3748 FOXI3 gene FOXI3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FOXI3-related microtia and craniofacial microsomia 36260083 False 1 0;0;100 6.447 False ENSG00000214336 ENSG00000214336 HGNC:35123 FRY gene FRY DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000073910 ENSG00000073910 HGNC:20367 FTO gene FTO DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GROWTH RETARDATION DEVELOPMENTAL DELAY COARSE FACIES AND EARLY DEATH 612938 19559399 False 1 0;50;50 6.447 False ENSG00000140718 ENSG00000140718 HGNC:24678 GABRG1 gene GABRG1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GABRG1-associated epileptic encephalopathy 36121006 False 1 0;0;100 6.447 False ENSG00000163285 ENSG00000163285 HGNC:4086 GAD1 gene GAD1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 1 603513 15571623 False 1 0;50;50 6.447 False ENSG00000128683 ENSG00000128683 HGNC:4092 GDF3 gene GDF3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA ISOLATED TYPE 7 613704;KLIPPEL-FEIL SYNDROME TYPE 3 613702;MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703 19864492;29260090 False 1 0;50;50 6.447 False ENSG00000184344 ENSG00000184344 HGNC:4218 GDI1 gene GDI1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 48 300849;MENTAL RETARDATION X-LINKED TYPE 41 300849 22002931;21736009;9620768;28863211 False 1 0;50;50 6.447 False ENSG00000203879 ENSG00000203879 HGNC:4226 GIGYF1 gene GIGYF1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GIGYF1-related developmental disorder (monoallelic) 33057194 False 1 0;0;100 6.447 False ENSG00000146830 ENSG00000146830 HGNC:9126 GNB3 gene GNB3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GNB3 Autosomal-Recessive Congenital Stationary Night Blindness. 27063057 False 1 0;50;50 6.447 False ENSG00000111664 ENSG00000111664 HGNC:4400 GNE gene GNE DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal GNE-associated congenital myopathy;GNE-associated sialuria, OMIM:269921 11486897;35121750;11326336;10356312;29923088;27142465;10330343;32053088 False 1 0;0;100 6.447 False ENSG00000159921 ENSG00000159921 HGNC:23657 GON4L gene GON4L DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION;Li-Takada-Miyake syndrome, OMIM:621212;Li-Takada-Miyake syndrome, MONDO:0978303 21937992 False 1 0;50;50 6.447 False ENSG00000116580 ENSG00000116580 HGNC:25973 GPHN gene GPHN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GPHN-related molybdenum cofactor deficiency, OMIM:615501 11095995;22040219 False 1 0;0;100 6.447 False ENSG00000171723 ENSG00000171723 HGNC:15465 GRIA4 gene GRIA4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES, 617864 29220673 False 1 0;50;50 6.447 False ENSG00000152578 ENSG00000152578 HGNC:4574 GSPT2 gene GSPT2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females XL INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000189369 ENSG00000189369 HGNC:4622 GTF2IRD1 gene GTF2IRD1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GTF2IRD1-related neurodevelopmental disorder 36308390 False 1 0;0;100 6.447 False ENSG00000006704 ENSG00000006704 HGNC:4661 HARS gene HARS DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal USHER SYNDROME 614504 22279524 False 1 0;50;50 6.447 False ENSG00000170445 ENSG00000170445 HGNC:4816 HEATR5B gene HEATR5B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HEATR5B-related pontocerebellar hypoplasia 38622473;33824466 False 1 0;0;100 6.447 False ENSG00000008869 ENSG00000008869 HGNC:29273 HIRA gene HIRA DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HIRA-related neurodevelopmental disorder 33417013 False 1 0;0;100 6.447 False ENSG00000100084 ENSG00000100084 HGNC:4916 HIST1H2AC gene HIST1H2AC DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HIST1H2AC-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000180573 ENSG00000180573 HGNC:4733 HIST1H4B gene HIST1H4B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000124529 ENSG00000278705 HGNC:4789 HIST3H3 gene HIST3H3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000168148 ENSG00000168148 HGNC:4778 HMGB3 gene HMGB3 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Colobomatous microphthalmia, microcephaly, intellectual disability, and short stature 24993872 False 1 0;50;50 6.447 False ENSG00000029993 ENSG00000029993 HGNC:5004 HOXA11 gene HOXA11 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 26581901 False 1 0;50;50 6.447 False ENSG00000005073 ENSG00000005073 HGNC:5101 HTRA2 gene HTRA2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria 27696117 False 1 0;50;50 6.447 False ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA 616007 25130867;28328135 False 1 0;50;50 6.447 False ENSG00000067704 ENSG00000067704 HGNC:29685 IGBP1 gene IGBP1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females AGENESIS OF THE CORPUS CALLOSUM WITH MENTAL RETARDATION-OCULAR COLOBOMA-MICROGNATHIA 300472 23871722 False 1 0;50;50 6.447 False ENSG00000089289 ENSG00000089289 HGNC:5461 IKZF2 gene IKZF2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodysregulation with variable immunodeficiency and autoimmunity, OMIM:621233;Immunodysregulation, craniofacial anomalies, hearing impairment, athelia, and developmental delay, OMIM:621234 37316189 False 1 0;0;100 6.447 False Other ENSG00000030419 ENSG00000030419 HGNC:13177 IL11 gene IL11 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOSYNOSTOSIS AND DENTAL ANOMALIES 614188 21741611 False 1 0;50;50 6.447 False ENSG00000095752 ENSG00000095752 HGNC:5966 ITGA6 gene ITGA6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA 226730 9185503 False 1 0;50;50 6.447 False ENSG00000091409 ENSG00000091409 HGNC:6142 JMJD1C gene JMJD1C DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown JMJD1C-related neurodevelopmental disorder 26181491;31954878 False 1 0;0;100 6.447 False ENSG00000171988 ENSG00000171988 HGNC:12313 KANK1 gene KANK1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 2 612900 16301218 False 1 0;50;50 6.447 False ENSG00000107104 ENSG00000107104 HGNC:19309 KCNA1 gene KCNA1 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal KCNA1-related epileptic encephalopathy, biallelic;KCNA1-related epileptic encephalopathy, monoallelic 30055040;33355533;31586945 False 1 0;0;100 6.447 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA4 gene KCNA4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal KCN4 related abnormal striatum, congenital cataract and intellectual disability. 27582084 False 1 0;50;50 6.447 False ENSG00000182255 ENSG00000182255 HGNC:6222 KCNK4 gene KCNK4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNK4-related facial dysmorphism, hypertrichosis, epilepsy, intellectual and developmental delay, and gingival overgrowth syndrome, OMIM:618381 30290154 False 1 0;50;50 6.447 False Other ENSG00000182450 ENSG00000182450 HGNC:6279 KCNK9 gene KCNK9 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) BIRK-BAREL SYNDROME, OMIM:612292 False 1 0;50;50 6.447 False Other ENSG00000169427 ENSG00000169427 HGNC:6283 KCNT2 gene KCNT2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Developmental and infantile epileptic encephalopathy 29740868 False 1 0;50;50 6.447 False Other ENSG00000162687 ENSG00000162687 HGNC:18866 KCTD1 gene KCTD1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SCALP-EAR-NIPPLE SYNDROME 23541344 False 1 0;50;50 6.447 False Other ENSG00000134504 ENSG00000134504 HGNC:18249 KDM5A gene KDM5A DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000073614 ENSG00000073614 HGNC:9886 KIAA0391 gene KIAA0391 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRORP-related mitochondrial disorder 34715011 False 1 0;0;100 6.447 False ENSG00000100890 ENSG00000100890 HGNC:19958 KIF3B gene KIF3B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KIF3B-related ciliopathy 32386558 False 1 0;0;100 6.447 False ENSG00000101350 ENSG00000101350 HGNC:6320 KIF4A gene KIF4A DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 24812067 False 1 0;50;50 6.447 False ENSG00000090889 ENSG00000090889 HGNC:13339 KIRREL3 gene KIRREL3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 4 612581 19012874 False 1 0;50;50 6.447 False ENSG00000149571 ENSG00000149571 HGNC:23204 KITLG gene KITLG DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WAARDENBURG SYNDROME TYPE 2 26522471 False 1 0;50;50 6.447 False Other ENSG00000049130 ENSG00000049130 HGNC:6343 KLF8 gene KLF8 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) NONSYNDROMIC MENTAL RETARDATION 22495311 False 1 0;50;50 6.447 False ENSG00000102349 ENSG00000102349 HGNC:6351 KLHL15 gene KLHL15 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 25644381 False 1 0;50;50 6.447 False ENSG00000174010 ENSG00000174010 HGNC:29347 KPNA7 gene KPNA7 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Gomez-Lopez-Fernandes syndrome 24045845 False 1 0;50;50 6.447 False ENSG00000185467 ENSG00000185467 HGNC:21839 LAGE3 gene LAGE3 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females GALLOWAY-MOWAT SYNDROME 2, 301006 28805828 False 1 0;50;50 6.447 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAS1L gene LAS1L DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females INTELLECTUAL DISABILITY 25644381;34653234 False 1 0;50;50 6.447 False ENSG00000001497 ENSG00000001497 HGNC:25726 LDB3 gene LDB3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYOPATHY MYOFIBRILLAR TYPE 4, OMIM:609452 False 1 0;50;50 6.447 False ENSG00000122367 ENSG00000122367 HGNC:15710 LEFTY2 gene LEFTY2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HETEROTAXY SYNDROME 207574 10053005 False 1 0;50;50 6.447 False ENSG00000143768 ENSG00000143768 HGNC:3122 LMBRD2 gene LMBRD2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LMBRD2-associated intellectual disability 32820033 False 1 0;0;100 6.447 False ENSG00000164187 ENSG00000164187 HGNC:25287 LRP6 gene LRP6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tooth Agenesis 26963285 False 1 0;50;50 6.447 False ENSG00000070018 ENSG00000070018 HGNC:6698 LSM11 gene LSM11 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal LSM11-related Aicardi-Goutieres syndrome 33230297 False 1 0;0;100 6.447 False ENSG00000155858 ENSG00000155858 HGNC:30860 MAGI2 gene MAGI2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EARLY ONSET EPILEPTIC ENCEPHALOPATHY 18565486 False 1 0;50;50 6.447 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAGT1 gene MAGT1 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females MENTAL RETARDATION X-LINKED TYPE 95 300716 18455129 False 1 0;50;50 6.447 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN2A2 gene MAN2A2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MAN2A2-related disorder of glycosylation 36357165 False 1 0;0;100 6.447 False ENSG00000196547 ENSG00000196547 HGNC:6825 MAPK10 gene MAPK10 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE 606369 False 1 0;50;50 6.447 False ENSG00000109339 ENSG00000109339 HGNC:6872 MARK4 gene MARK4 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MONDO:0700092;MARK4-related neurodevelopmental disorder 38041405 False 1 0;0;100 6.447 False Other ENSG00000007047 ENSG00000007047 HGNC:13538 MAU2 gene MAU2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MAU2 neurodevelopmental disorder 32433956 False 1 0;0;100 6.447 False ENSG00000129933 ENSG00000129933 HGNC:29140 MED23 gene MED23 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 18 614249 False 1 0;50;50 6.447 False ENSG00000112282 ENSG00000112282 HGNC:2372 MIB1 gene MIB1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIB1-related developmental disorder (monoallelic) 33057194;30322850 False 1 0;0;100 6.447 False ENSG00000101752 ENSG00000101752 HGNC:21086 MKL2 gene MKL2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MRTFB-related neurodevelopmental disorder 37013900 False 1 0;0;100 6.447 False Other ENSG00000186260 ENSG00000186260 HGNC:29819 MMP14 gene MMP14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal WINCHESTER SYNDROME 22922033 False 1 0;50;50 6.447 False ENSG00000157227 ENSG00000157227 HGNC:7160 MMP15 gene MMP15 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MMP15-related developmental disorder 34988996;33875846 False 1 0;0;100 6.447 False ENSG00000102996 ENSG00000102996 HGNC:7161 MMS19 gene MMS19 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MMS19-related dihydropyrimidine dehydrogenase deficiency 38411040 False 1 0;0;100 6.447 False ENSG00000155229 ENSG00000155229 HGNC:13824 MPC2 gene MPC2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MPC2-related metabolic disorder 36417180 False 1 0;0;100 6.447 False ENSG00000143158 ENSG00000143158 HGNC:24515 MPDZ gene MPDZ DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2 615219 23240096 False 1 0;50;50 6.447 False ENSG00000107186 ENSG00000107186 HGNC:7208 MSI1 gene MSI1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MSI1-associated Microcephaly 28572454 False 1 0;50;50 6.447 False ENSG00000135097 ENSG00000135097 HGNC:7330 MTF1 gene MTF1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000188786 ENSG00000188786 HGNC:7428 MT-TL1 gene MT-TL1 DD-Gene2Phenotype;Expert Review Red DDG2P MITOCHONDRIAL MT-TL1-associated mitochondrial disorder 34075211 False 1 0;0;100 6.447 False ENSG00000209082 ENSG00000209082 HGNC:7490 MYCBP2 gene MYCBP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MYCBP2-related developmental delay with corpus callosum defects 36200388 False 1 0;0;100 6.447 False ENSG00000005810 ENSG00000005810 HGNC:23386 MYH11 gene MYH11 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 25407000;29575632 False 1 0;50;50 6.447 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYH6 gene MYH6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CARDIOMYOPATHY DILATED TYPE 1EE 613252;CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251;ATRIAL SEPTAL DEFECT TYPE 3 614089 15735645;29536580;31638415;20656787;29969989;29505555;34481090 False 1 0;33;67 6.447 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYL1 gene MYL1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY, OMIM:618414 30215711 False 1 0;0;100 6.447 False ENSG00000168530 ENSG00000168530 HGNC:7582 MYSM1 gene MYSM1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MYSM1-related congenital bone marrow failure, OMIM:618116 26220525;32640305;28115216;33618624;24288411 False 1 0;0;100 6.447 False ENSG00000162601 ENSG00000162601 HGNC:29401 MYT1 gene MYT1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OAVS/Goldenhar syndrome 27358179 False 1 0;50;50 6.447 False ENSG00000196132 ENSG00000196132 HGNC:7622 NAA20 gene NAA20 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NAA20-associated developmental delay and microcephaly 34230638 False 1 0;0;100 6.447 False ENSG00000173418 ENSG00000173418 HGNC:15908 NADK2 gene NADK2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Dienoyl-CoA reductase deficiency with hyperlysinemia 24847004 False 1 0;50;50 6.447 False ENSG00000152620 ENSG00000152620 HGNC:26404 NCAPD2 gene NCAPD2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephaly with short stature 27737959 False 1 0;50;50 6.447 False ENSG00000010292 ENSG00000010292 HGNC:24305 NCAPD3 gene NCAPD3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Microcephaly with short stature 27737959 False 1 0;50;50 6.447 False ENSG00000151503 ENSG00000151503 HGNC:28952 NCAPH gene NCAPH DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal microcephaly 27737959 False 1 0;50;50 6.447 False ENSG00000121152 ENSG00000121152 HGNC:1112 NCKAP1 gene NCKAP1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NCKAP1-related Neurodevelopmental Disorder 33157009 False 1 0;0;100 6.447 False ENSG00000061676 ENSG00000061676 HGNC:7666 NCOR1 gene NCOR1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NCOR1-related developmental disorder 30289594;27824329 False 1 0;0;100 6.447 False ENSG00000141027 ENSG00000141027 HGNC:7672 NDUFA9 gene NDUFA9 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal LEIGH SYNDROME 256000 False 1 0;50;50 6.447 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFB7 gene NDUFB7 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NDUFB7-associated lactic acidosis and hypertrophic cardiomyopathy 33502047 False 1 0;0;100 6.447 False ENSG00000099795 ENSG00000099795 HGNC:7702 NOTCH3 gene NOTCH3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INFANTILE MYOFIBROMATOSIS 615293 23731542 False 1 0;50;50 6.447 False Other ENSG00000074181 ENSG00000074181 HGNC:7883 NR1I3 gene NR1I3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EHMT1-LIKE INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000143257 ENSG00000143257 HGNC:7969 NRXN2 gene NRXN2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 False 1 0;50;50 6.447 False ENSG00000110076 ENSG00000110076 HGNC:8009 NRXN3 gene NRXN3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 22209245 False 1 0;50;50 6.447 False ENSG00000021645 ENSG00000021645 HGNC:8010 NSMCE3 gene NSMCE3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal DISTINCT DNA BREAKAGE SYNDROME False 1 0;50;50 6.447 False ENSG00000185115 ENSG00000185115 HGNC:7677 NSUN6 gene NSUN6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NSUN6-related neurodevelopmental disorder 37226891 False 1 0;0;100 6.447 False ENSG00000241058 ENSG00000241058 HGNC:23529 NUDCD2 gene NUDCD2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NUDCD2-related brain and cardiac malformations with cholestasis and renal failure 37272762 False 1 0;0;100 6.447 False ENSG00000170584 ENSG00000170584 HGNC:30535 OTUD7A gene OTUD7A DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 15q13.3 deletions phenocopy 29395074 False 1 0;50;50 6.447 False ENSG00000169918 ENSG00000169918 HGNC:20718 PABPC1 gene PABPC1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PABPC1-related developmental delay 35511136 False 1 0;0;100 6.447 False ENSG00000070756 ENSG00000070756 HGNC:8554 PARP1 gene PARP1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000143799 ENSG00000143799 HGNC:270 PCBP2 gene PCBP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PCBP2-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000197111 ENSG00000197111 HGNC:8648 PDIA6 gene PDIA6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PDIA6-associated syndromic neonatal diabetes and asphyxiating thoracic dystrophy 33495992;35856135 False 1 0;0;100 6.447 False ENSG00000143870 ENSG00000143870 HGNC:30168 PECR gene PECR DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000115425 ENSG00000115425 HGNC:18281 PHC1 gene PHC1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRIMARY MICROCEPHALY 615414 23418308 False 1 0;50;50 6.447 False ENSG00000111752 ENSG00000111752 HGNC:3182 PIGM gene PIGM DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency 16767100 False 1 0;50;50 6.447 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGQ gene PIGQ DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome-4 OMIM:618548 24463883 False 1 0;50;50 6.447 False ENSG00000007541 ENSG00000007541 HGNC:14135 PIGW gene PIGW DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5 616025 24367057 False 1 0;50;50 6.447 False ENSG00000184886 ENSG00000277161 HGNC:23213 PISD gene PISD DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal OMIM:618889.0;MONDO:0030045;PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function 38801004;31263216;30858161;30488656 False 1 0;0;100 6.447 False ENSG00000241878 ENSG00000241878 HGNC:8999 PLA2G16 gene PLA2G16 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683 37919452 False 1 0;0;100 6.447 False ENSG00000176485 ENSG00000176485 HGNC:17825 PLCG2 gene PLCG2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation, antibody deficiency, and immune dysregulation syndrome, OMIM:614878;Familial cold autoinflammatory syndrome 3, OMIM:614468 23000145 False 1 0;50;50 6.447 False ENSG00000197943 ENSG00000197943 HGNC:9066 PLCH1 gene PLCH1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal HPE-related disorder 33820834 False 1 0;0;100 6.447 False ENSG00000114805 ENSG00000114805 HGNC:29185 PLOD3 gene PLOD3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal LYSYL HYDROXYLASE 3 DEFICIENCY 612394 18834968 False 1 0;50;50 6.447 False ENSG00000106397 ENSG00000106397 HGNC:9083 PLXNA1 gene PLXNA1 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal PLXNA1-associated neurodevelopmental disorder (biallelic);PLXNA1-associated neurodevelopmental disorder with seizures (monoallelic) 34054129 False 1 0;0;100 6.447 False ENSG00000114554 ENSG00000114554 HGNC:9099 POLR3GL gene POLR3GL DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Endosteal Hyperostosis and Oligodontia 31089205 False 1 0;0;100 6.447 False ENSG00000121851 ENSG00000121851 HGNC:28466 POMP gene POMP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952 20226437 False 1 0;50;50 6.447 False ENSG00000132963 ENSG00000132963 HGNC:20330 POT1 gene POT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Coats Plus 27013236 False 1 0;50;50 6.447 False ENSG00000128513 ENSG00000128513 HGNC:17284 PPM1K gene PPM1K DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PPM1K-related maple syrup urine disease 23086801;36706222 False 1 0;0;100 6.447 False ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R15B gene PPP1R15B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Severe microcephaly, short stature and intellectual disability 26307080 False 1 0;50;50 6.447 False ENSG00000158615 ENSG00000158615 HGNC:14951 PPP1R3F gene PPP1R3F DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females PPP1R3F-related neurodevelopmental disorder 37531237 False 1 0;0;100 6.447 False ENSG00000049769 ENSG00000049769 HGNC:14944 PPP2R2B gene PPP2R2B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PPP2R2B-related neurodevelopmental disorder 25356899;39565297 False 1 0;0;100 6.447 False ENSG00000156475 ENSG00000156475 HGNC:9305 PRDM15 gene PRDM15 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PRDM15-related renal and neurodevelopmental disorder 33593823 False 1 0;0;100 6.447 False ENSG00000141956 ENSG00000141956 HGNC:13999 PRDM6 gene PRDM6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Isolated Nonsyndromic Patent Ductus Arteriosus. 27181681 False 1 0;50;50 6.447 False ENSG00000061455 ENSG00000061455 HGNC:9350 PRMT9 gene PRMT9 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000164169 ENSG00000164169 HGNC:25099 PROSER1 gene PROSER1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PROSER1-related developmental disorder 35229282 False 1 0;0;100 6.447 False ENSG00000120685 ENSG00000120685 HGNC:20291 PSMC1 gene PSMC1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMC1-related neurodevelopmental disorder 35861243 False 1 0;0;100 6.447 False ENSG00000100764 ENSG00000100764 HGNC:9547 PSMD11 gene PSMD11 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMD11-related neurodevelopmental disorder with or without obesity 38866022 False 1 0;0;100 6.447 False ENSG00000108671 ENSG00000108671 HGNC:9556 PSMD12 gene PSMD12 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Global Developmental Delay, Multiple Malformations 28388435 False 1 0;50;50 6.447 False ENSG00000197170 ENSG00000197170 HGNC:9557 PTPRF gene PTPRF DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ATHELIA 24781087 False 1 0;50;50 6.447 False ENSG00000142949 ENSG00000142949 HGNC:9670 QKI gene QKI DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY 20082458 False 1 0;50;50 6.447 False ENSG00000112531 ENSG00000112531 HGNC:21100 RABL6 gene RABL6 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000196642 ENSG00000196642 HGNC:24703 RAD50 gene RAD50 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER 613078 19409520 False 1 0;50;50 6.447 False ENSG00000113522 ENSG00000113522 HGNC:9816 RAD51 gene RAD51 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRROR MOVEMENTS 2 614508 21242494 False 1 0;50;50 6.447 False ENSG00000051180 ENSG00000051180 HGNC:9817 RALGDS gene RALGDS DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000160271 ENSG00000160271 HGNC:9842 RANBP2 gene RANBP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACUTE NECROTIZING ENCEPHALOPATHY 1, SUSCEPTIBILITY TO 285648 19118815 False 1 0;50;50 6.447 False ENSG00000153201 ENSG00000153201 HGNC:9848 RAP1B gene RAP1B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RAP1B-related developmental disorder 32627184;26280580 False 1 0;0;100 6.447 False ENSG00000127314 ENSG00000127314 HGNC:9857 RASA1 gene RASA1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PARKES WEBER SYNDROME 608355;CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354 18363760;14639529 False 1 0;33;67 6.447 False ENSG00000145715 ENSG00000145715 HGNC:9871 RBFOX1 gene RBFOX1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RBFOX1-related neurodevelopmental disorder 26185613;26749308 False 1 0;0;100 6.447 False ENSG00000078328 ENSG00000078328 HGNC:18222 RBM28 gene RBM28 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079 18439547 False 1 0;50;50 6.447 False ENSG00000106344 ENSG00000106344 HGNC:21863 RGS7 gene RGS7 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000182901 ENSG00000182901 HGNC:10003 RICTOR gene RICTOR DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RICTOR-related neurodevelopmental disorder 39738822 False 1 0;0;100 6.447 False Other ENSG00000164327 ENSG00000164327 HGNC:28611 RMI1 gene RMI1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Bloom Syndrome like Disorder 30193137 False 1 0;50;50 6.447 False ENSG00000178966 ENSG00000178966 HGNC:25764 RNF113A gene RNF113A DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females X-LINKED TRICHOTHIODYSTROPHY 25612912 False 1 0;50;50 6.447 False ENSG00000125352 ENSG00000125352 HGNC:12974 RNF125 gene RNF125 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RNF125-related intellectual disability and macrocephaly, OMIM:616260 34196401;25196541 False 1 0;0;100 6.447 False ENSG00000101695 ENSG00000101695 HGNC:21150 RNF135 gene RNF135 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME 614192 17632510 False 1 0;50;50 6.447 False ENSG00000181481 ENSG00000181481 HGNC:21158 RNF168 gene RNF168 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal RIDDLE SYNDROME 611943 False 1 0;50;50 6.447 False ENSG00000163961 ENSG00000163961 HGNC:26661 RNU12 gene RNU12 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal RNU12-related CDAGS syndrome 27863452;34085356 False 1 0;0;100 6.447 False ENSG00000270022 ENSG00000276027 HGNC:19380 RPH3A gene RPH3A DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPH3A-related neurodevelopmental disorder 37403762 False 1 0;0;100 6.447 False Other ENSG00000089169 ENSG00000089169 HGNC:17056 RPL13 gene RPL13 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spondyloepimetaphyseal Dysplasia with Severe Short Stature 31630789 False 1 0;0;100 6.447 False ENSG00000167526 ENSG00000167526 HGNC:10303 RREB1 gene RREB1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RREB1-related RASopathy syndrome with congenital heart disease, genitourinary malformations, and developmental delay 38332451;40418122 False 1 0;0;100 6.447 False ENSG00000124782 ENSG00000124782 HGNC:10449 RRM1 gene RRM1 DD-Gene2Phenotype;Expert Review Red DDG2P BOTH monoallelic and biallelic, autosomal or pseudoautosomal RRM1-related mitochondrial DNA depletion/deletions syndrome 35617047 False 1 0;0;100 6.447 False ENSG00000167325 ENSG00000167325 HGNC:10451 RUBCN gene RUBCN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SYNDROMIC MR WITH ATAXIA, DYSARTHRIA AND EPILEPSY False 1 0;50;50 6.447 False ENSG00000145016 ENSG00000145016 HGNC:28991 RYR2 gene RYR2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability 30170228 False 1 0;0;100 6.447 False ENSG00000198626 ENSG00000198626 HGNC:10484 RYR3 gene RYR3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPILEPTIC ENCEPHALOPATHY 25262651 False 1 0;50;50 6.447 False ENSG00000198838 ENSG00000198838 HGNC:10485 SAMD9L gene SAMD9L DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia-Pancytopenia Syndrome 27259050 False 1 0;50;50 6.447 False ENSG00000177409 ENSG00000177409 HGNC:1349 SCNM1 gene SCNM1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SCNM1-associated orofaciodigital syndrome 36084634 False 1 0;0;100 6.447 False ENSG00000163156 ENSG00000163156 HGNC:23136 SCRIB gene SCRIB DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 8Q24.3 DELETION-LIKE 24140112 False 1 0;50;50 6.447 False ENSG00000180900 ENSG00000180900 HGNC:30377 SEC23A gene SEC23A DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CRANIOLENTICULOSUTURAL DYSPLASIA 607812 16980979 False 1 0;50;50 6.447 False ENSG00000100934 ENSG00000100934 HGNC:10701 SEC61A1 gene SEC61A1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia False 1 0;50;50 6.447 False ENSG00000058262 ENSG00000058262 HGNC:18276 SGSM3 gene SGSM3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SGSM3-related intellectual disability 37833060 False 1 0;0;100 6.447 False ENSG00000100359 ENSG00000100359 HGNC:25228 SH3BP2 gene SH3BP2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cherubism, OMIM:118400 11381256 False 1 0;50;50 6.447 False Other ENSG00000087266 ENSG00000087266 HGNC:10825 SIN3B gene SIN3B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SIN3B-related syndromic intellectual disability and autism spectrum disorder 33811806 False 1 0;0;100 6.447 False ENSG00000127511 ENSG00000127511 HGNC:19354 SIX6 gene SIX6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 212550 15266624 False 1 0;50;50 6.447 False ENSG00000184302 ENSG00000184302 HGNC:10892 SLC30A7 gene SLC30A7 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SLC30A7-associated Joubert syndrome 35751429 False 1 0;0;100 6.447 False ENSG00000162695 ENSG00000162695 HGNC:19306 SLC35B2 gene SLC35B2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SLC35B2-related chondrodysplasia with hypomyelinating leukodystrophy 35325049 False 1 0;0;100 6.447 False ENSG00000157593 ENSG00000157593 HGNC:16872 SLC9A7 gene SLC9A7 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108, OMIM:301024 30335141 False 1 0;0;100 6.447 False ENSG00000065923 ENSG00000065923 HGNC:17123 SLC9A9 gene SLC9A9 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUSCEPTIBILITY TO AUTISM TYPE 16 613410 False 1 0;50;50 6.447 False ENSG00000181804 ENSG00000181804 HGNC:20653 SLIRP gene SLIRP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SLIRP-related mitochondrial encephalomyopathy 34426662 False 1 0;0;100 6.447 False ENSG00000119705 ENSG00000119705 HGNC:20495 SLIT3 gene SLIT3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SLIT3-related congenital anomalies 33933663;29100090 False 1 0;0;100 6.447 False ENSG00000184347 ENSG00000184347 HGNC:11087 SMAD2 gene SMAD2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL HEART DISEASE 30157302;23665959 False 1 0;50;50 6.447 False ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD6 gene SMAD6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Non-syndromic craniosynostosis 27606499;28808027 False 1 0;50;50 6.447 False ENSG00000137834 ENSG00000137834 HGNC:6772 SNIP1 gene SNIP1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SYMPTOMATIC EPILEPSY AND SKULL DYSPLASIA 614501 22279524 False 1 0;50;50 6.447 False ENSG00000163877 ENSG00000163877 HGNC:30587 SNX3 gene SNX3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MICROPHTHALMIA SYNDROMIC TYPE 8 601349 12471201 False 1 0;50;50 6.447 False ENSG00000112335 ENSG00000112335 HGNC:11174 SOBP gene SOBP DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal MENTAL RETARDATION-ANTERIOR MAXILLARY PROTRUSION-STRABISMUS 613671 21035105 False 1 0;50;50 6.447 False ENSG00000112320 ENSG00000112320 HGNC:29256 SPRTN gene SPRTN DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal PROGEROID SYNDROME False 1 0;50;50 6.447 False ENSG00000010072 ENSG00000010072 HGNC:25356 SPRY1 gene SPRY1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SPRY1-associated craniosynostosis with inner ear and renal anomalies 36543535 False 1 0;0;100 6.447 False ENSG00000164056 ENSG00000164056 HGNC:11269 SRGAP3 gene SRGAP3 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SLIT-ROBO RHO GTPASE-ACTIVATING PROTEIN 3 606525 12195014 False 1 0;50;50 6.447 False ENSG00000196220 ENSG00000196220 HGNC:19744 SRPX2 gene SRPX2 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females BILATERAL PERISYLVIAN POLYMICROGYRIA 300388;ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED 300643 16497722 False 1 0;50;50 6.447 False ENSG00000102359 ENSG00000102359 HGNC:30668 SRSF1 gene SRSF1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SRSF1-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000136450 ENSG00000136450 HGNC:10780 STAT2 gene STAT2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Recessive gain of function causing increased interferon signalling;Viral induced severe multiorgan dysfunction associated with impaired mitochondrial fission 26408653;26122121 False 1 0;50;50 6.447 False ENSG00000170581 ENSG00000170581 HGNC:11363 STIM1 gene STIM1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TUBULAR-AGGREGATE MYOPATHY 160565 23332920 False 1 0;50;50 6.447 False Other ENSG00000167323 ENSG00000167323 HGNC:11386 STT3B gene STT3B DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX 615597 23842455 False 1 0;50;50 6.447 False ENSG00000163527 ENSG00000163527 HGNC:30611 SUMO1 gene SUMO1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CLEFT LIP +/- CLEFT PALATE 608874 16990542 False 1 0;50;50 6.447 False ENSG00000116030 ENSG00000116030 HGNC:12502 SUPT16H gene SUPT16H DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SUPT16H-related neurodevelopmental disorder 31924697 False 1 0;0;100 6.447 False ENSG00000092201 ENSG00000092201 HGNC:11465 SYNCRIP gene SYNCRIP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SYNCRIP-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000135316 ENSG00000135316 HGNC:16918 TAF1C gene TAF1C DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TAF1C-related neurodevelopmental disorder 40371665;32779182 False 1 0;0;100 6.447 False ENSG00000103168 ENSG00000103168 HGNC:11534 TAF2 gene TAF2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000064313 ENSG00000064313 HGNC:11536 TAF4 gene TAF4 DD-Gene2Phenotype;Expert Review Red;Literature DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TAF4-related neurodevelopmental disorder;Developmental delay 35904126;33875846 False 1 50;0;50 6.447 False ENSG00000130699 ENSG00000130699 HGNC:11537 TANC2 gene TANC2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TANC2-related neurodevelopmental and psychiatric disorders 31616000 False 1 0;0;100 6.447 False ENSG00000170921 ENSG00000170921 HGNC:30212 TFRC gene TFRC DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency 26642240 False 1 0;50;50 6.447 False ENSG00000072274 ENSG00000072274 HGNC:11763 THG1L gene THG1L DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal THG1L-associated cerebellar ataxia, OMIM:618800 30214071;27307223;31168944;33682303 False 1 0;0;100 6.447 False ENSG00000113272 ENSG00000113272 HGNC:26053 TIMM22 gene TIMM22 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TIMM22-related combined oxidative phosphorylation deficiency;OMIM:618851.0 30452684 False 1 0;0;100 6.447 False ENSG00000177370 ENSG00000177370 HGNC:17317 TKFC gene TKFC DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TKFC-related Cataracts and Multisystem Disease 32004446 False 1 0;0;100 6.447 False ENSG00000149476 ENSG00000149476 HGNC:24552 TLL1 gene TLL1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ATRIAL SEPTAL DEFECT TYPE 6 613087 18830233 False 1 0;50;50 6.447 False ENSG00000038295 ENSG00000038295 HGNC:11843 TM4SF20 gene TM4SF20 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SPECIFIC LANGUAGE IMPAIRMENT 5 615432 23810381 False 1 0;50;50 6.447 False ENSG00000168955 ENSG00000168955 HGNC:26230 TMEM114 gene TMEM114 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONGENITAL AND JUVENILE CATARACT 611579 24357539;17492639 False 1 0;50;50 6.447 False ENSG00000232258 ENSG00000232258 HGNC:33227 TMEM135 gene TMEM135 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000166575 ENSG00000166575 HGNC:26167 TMEM184B gene TMEM184B DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TMEM184B-related neurodevelopmental disorder 40885185 False 1 0;0;100 6.447 False ENSG00000198792 ENSG00000198792 HGNC:1310 TNPO2 gene TNPO2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TNPO2-related intellectual disability 34314705 False 1 0;0;100 6.447 False ENSG00000105576 ENSG00000105576 HGNC:19998 TPRKB gene TPRKB DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME 5, 617731 28805828 False 1 0;50;50 6.447 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRAPPC10 gene TRAPPC10 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TRAPPC10-associated intellectual disability 30167849 False 1 0;0;100 6.447 False ENSG00000160218 ENSG00000160218 HGNC:11868 TRAPPC2L gene TRAPPC2L DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal TRAPPC2L-related Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, OMIM:618331 32843486;30120216 False 1 0;0;100 6.447 False ENSG00000167515 ENSG00000167515 HGNC:30887 TRIT1 gene TRIT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal tRNA isopentenyltransferase deficiency 32088416;28185376;32948376;31140736;24901367 False 1 0;50;50 6.447 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT1 gene TRMT1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000104907 ENSG00000104907 HGNC:25980 TRPC5 gene TRPC5 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, biallelic mutations in females TRPC5-related neurodevelopmental disorder 36323681 False 1 0;0;100 6.447 False ENSG00000072315 ENSG00000072315 HGNC:12337 TSHZ1 gene TSHZ1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AURAL ATRESIA, CONGENITAL 607842 22152683 False 1 0;50;50 6.447 False ENSG00000179981 ENSG00000179981 HGNC:10669 TUBA8 gene TUBA8 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA 613180 19896110 False 1 0;50;50 6.447 False ENSG00000183785 ENSG00000183785 HGNC:12410 UBE3C gene UBE3C DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UBE3C-related neurodevelopmental disorder with absent speech and movement and behavioural abnormalities 36401616 False 1 0;0;100 6.447 False ENSG00000009335 ENSG00000009335 HGNC:16803 UFSP2 gene UFSP2 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UFSP2-associated developmental delay and epilepsy 33473208 False 1 0;0;100 6.447 False ENSG00000109775 ENSG00000109775 HGNC:25640 UHRF1 gene UHRF1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome 36458887 False 1 0;0;100 6.447 False ENSG00000034063 ENSG00000276043 HGNC:12556 UNC79 gene UNC79 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UNC79-related intellectual disability with focal motor seizures 37183800 False 1 0;0;100 6.447 False ENSG00000133958 ENSG00000133958 HGNC:19966 UROC1 gene UROC1 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal UROCANASE DEFICIENCY 276880 19304569 False 1 0;50;50 6.447 False ENSG00000159650 ENSG00000159650 HGNC:26444 UTP4 gene UTP4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 205306 12417987 False 1 0;50;50 6.447 False ENSG00000141076 ENSG00000141076 HGNC:1983 VAC14 gene VAC14 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Progressive neurological disorder and regression of developmental milestones 27292112 False 1 0;50;50 6.447 False ENSG00000103043 ENSG00000103043 HGNC:25507 VANGL1 gene VANGL1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NEURAL TUBE DEFECTS 182940 17409324 False 1 0;50;50 6.447 False ENSG00000173218 ENSG00000173218 HGNC:15512 VCP gene VCP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown VCP-related developmental disorder (monoallelic) False 1 0;0;100 6.447 False ENSG00000165280 ENSG00000165280 HGNC:12666 VIP gene VIP DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ASPERGER 23849776 False 1 0;50;50 6.447 False ENSG00000146469 ENSG00000146469 HGNC:12693 WDR4 gene WDR4 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal GALLOWAY-MOWAT SYNDROME 6, 618347 30079490 False 1 0;50;50 6.447 False ENSG00000160193 ENSG00000160193 HGNC:12756 WDR81 gene WDR81 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 610185 21885617 False 1 0;50;50 6.447 False ENSG00000167716 ENSG00000167716 HGNC:26600 XPNPEP3 gene XPNPEP3 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 1 33;33;33 6.447 False ENSG00000196236 ENSG00000196236 HGNC:28052 YWHAZ gene YWHAZ DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown YWHAZ-related developmental delay with simplified gyral pattern 36001342 False 1 0;0;100 6.447 False ENSG00000164924 ENSG00000164924 HGNC:12855 ZBTB16 gene ZBTB16 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal SKELETAL DEFECTS GENITAL HYPOPLASIA AND MENTAL RETARDATION 612447 False 1 0;50;50 6.447 False ENSG00000109906 ENSG00000109906 HGNC:12930 ZBTB40 gene ZBTB40 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000184677 ENSG00000184677 HGNC:29045 ZBTB47 gene ZBTB47 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZBTB47-related developmental delay, intellectual disability, hypotonia and seizures 38327012 False 1 0;0;100 6.447 False ENSG00000114853 ENSG00000114853 HGNC:26955 ZBTB7A gene ZBTB7A DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ZBTB7A-associated developmental disorder 31645653;34515416 False 1 0;0;100 6.447 False ENSG00000178951 ENSG00000178951 HGNC:18078 ZCCHC8 gene ZCCHC8 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal AUTOSOMAL RECESSIVE MENTAL RETARDATION 21937992 False 1 0;50;50 6.447 False ENSG00000033030 ENSG00000033030 HGNC:25265 ZDHHC15 gene ZDHHC15 DD-Gene2Phenotype;Expert Review Red DDG2P X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MENTAL RETARDATION X-LINKED TYPE 91 300577 15915161 False 1 0;50;50 6.447 False ENSG00000102383 ENSG00000102383 HGNC:20342 ZEB1 gene ZEB1 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CORNEAL DYSTROPHY FUCHS ENDOTHELIAL TYPE 6 613270;POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY TYPE 3 609141 False 1 0;50;50 6.447 False ENSG00000148516 ENSG00000148516 HGNC:11642 ZFPM2 gene ZFPM2 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TETRALOGY OF FALLOT 187500;DIAPHRAGMATIC HERNIA 3 610187;46,XY GONADAL DYSGENESIS 16103912;24549039 False 1 0;50;50 6.447 False ENSG00000169946 ENSG00000169946 HGNC:16700 ZMYM6 gene ZMYM6 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown INTELLECTUAL DISABILITY False 1 0;50;50 6.447 False ENSG00000163867 ENSG00000163867 HGNC:13050 ZNF407 gene ZNF407 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal ZNF407-related Neurodevelopmental Disorder 24907849;32737394 False 1 0;0;100 6.447 False ENSG00000215421 ENSG00000215421 HGNC:19904 ZNF526 gene ZNF526 DD-Gene2Phenotype;Expert Review Red DDG2P BIALLELIC, autosomal or pseudoautosomal Dentici-Novelli neurodevelopmental syndrome, OMIM:619877 21937992 False 1 0;50;50 6.447 False ENSG00000167625 ENSG00000167625 HGNC:29415 ZNF713 gene ZNF713 DD-Gene2Phenotype;Expert Review Red DDG2P MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown AUTISM 209850 25196122 False 1 0;50;50 6.447 False ENSG00000178665 ENSG00000178665 HGNC:22043 DMPK_CTG str DMPK Expert Review Green;NHS GMS;Expert list DDG2P MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 7825566 False 3 100;0;0 6.447 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50