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 CACNA1C gene CACNA1C Brugada syndrome (Version 1.7);Emory Genetics Laboratory;Expert Review Green;Literature;London South GLH;Long QT syndrome (Version 1.5);North West GLH;South West GLH;UKGTN;West Midlands, Oxford and Wessex GLH Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;Short QT;CACNA1C-related disorder 24291113;16301704;30027834;30279520;17224476;28427417;28490369;29759541;29697308 False 3 50;25;25 3.10 False ENSG00000151067 ENSG00000151067 HGNC:1390 KCNH2 gene KCNH2 Brugada syndrome (Version 1.7);Emory Genetics Laboratory;Expert Review Green;Literature;London South GLH;Long QT syndrome (Version 1.5);North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN;West Midlands, Oxford and Wessex GLH Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada;Short QT syndrome 1 (609620);ventricular fibrillation;cardiac arrest;Short QT syndrome 1 609620;Long QT syndrome-2 (613688);short qt;atrial fibrillation 16226079;16301704;4676148;15828882;19340359;18692916;21130771;25974115;29016797;29759541;16011830;19439805;22194679;16039272;29085299 False 3 71;14;14 3.10 False Other ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Emory Genetics Laboratory;Expert Review Green;Literature;London South GLH;Long QT syndrome (Version 1.5);North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN;West Midlands, Oxford and Wessex GLH Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 3, OMIM:609622;Short QT syndrome type 3, MONDO:0012314;Atrial fibrillation, familial, 9, OMIM:613980;Atrial fibrillation, familial, 9, MONDO:0013513;Andersen syndrome, OMIM:170390;Andersen-Tawil syndrome, MONDO:0008222 16226079;16301704;15761194;22155372;23440193;24794859;22311718;22308236;19285083;19710529;25691870 False 3 57;14;29 3.10 False Other ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ1 gene KCNQ1 Emory Genetics Laboratory;Expert Review Green;London South GLH;Long QT syndrome (Version 1.5);North West GLH;Other;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN;West Midlands, Oxford and Wessex GLH Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 2, OMIM:609621;Long QT syndrome-1, OMIM:192500;Atrial fibrillation, familial, 3, OMIM:607554 16226079;16301704;15159330;16109388;26168993;26346102;25974115;29697308 False 3 62;38;0 3.10 True ENSG00000053918 ENSG00000053918 HGNC:6294 CACNA2D1 gene CACNA2D1 Brugada syndrome (Version 1.7);Expert Review Amber;Literature;London South GLH;North West GLH;South West GLH;UKGTN Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short qt;Brugada syndrome;aborted sudden death;Short QT syndrome 6 30420954;19862833;16301704 False 2 14;71;14 3.10 True ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 Brugada syndrome (Version 1.7);Expert Review Amber;Literature;London South GLH;North West GLH;South West GLH;UKGTN Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 4 (611876);Short QT syndrome 5;brugada syndrome;Brugada syndrome 4 611876;short qt 30420954;19862833;16301704 False 2 14;71;14 3.10 False ENSG00000165995 ENSG00000165995 HGNC:1402 SCN5A gene SCN5A Brugada syndrome (Version 1.7);Emory Genetics Laboratory;Expert Review Amber;Literature;Long QT syndrome (Version 1.5);North West GLH;South West GLH Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular fibrillation, familial, 1 (603829);Brugada syndrome 1 (601144);{Sudden infant death syndrome, susceptibility to} (272120);Brugada syndrome 1 601144;Heart block, progressive, type IA (113900);Heart block, nonprogressive (113900);Sick sinus syndrome 1 (608567);Long QT syndrome-3 (603830);Cardiomyopathy, dilated, 1E (601154);Atrial fibrillation, familial, 10 (614022) 16301704;30420954;22490985 False 2 25;25;50 3.10 False ENSG00000183873 ENSG00000183873 HGNC:10593 SLC4A3 gene SLC4A3 Expert Review Amber;Literature;South West GLH;West Midlands, Oxford and Wessex GLH Short QT syndrome MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown short QT;ventricular fibrillation;cardiac arrest 29167417;29697308 False 2 20;60;20 3.10 False ENSG00000114923 ENSG00000114923 HGNC:11029