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 ANK2 gene ANK2 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada/Brugada like syndrome;Long QT syndrome-4;Long QT syndrome 4 600919;Cardiac arrhythmia, ankyrin-B-related 600919;catecholaminergic polymorphic ventricular tachycardia False 3 0;0;0 1.12 False ENSG00000145362 ENSG00000145362 HGNC:493 CACNA1C gene CACNA1C Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown brugada syndrome;Brugada syndrome 3 611875;short qt;syncope;Brugada syndrome 3;scd 28427417;28490369;17224476;29697308;29759541;15454078 False 3 0;0;0 1.12 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNB2 gene CACNB2 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown brugada syndrome;Short QT syndrome 5;Brugada syndrome 4 611876;Brugada syndrome 4;short qt 17224476;30027834;29759541 False 3 0;0;0 1.12 False ENSG00000165995 ENSG00000165995 HGNC:1402 CALM1 gene CALM1 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 4;Long QT syndrome 14;catecholaminergic polymorphic ventricular tachycardia False 3 0;0;0 1.12 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550 24917665;27100291;27114410;33200177 False 3 0;0;0 1.12 False ENSG00000143933 ENSG00000143933 HGNC:1445 CASQ2 gene CASQ2 Expert Review Green Cardiac arrhythmias - previous panel BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2 False 3 0;0;0 1.12 False ENSG00000118729 ENSG00000118729 HGNC:1513 GPD1L gene GPD1L Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2 False 3 0;0;0 1.12 False ENSG00000152642 ENSG00000152642 HGNC:28956 HCN4 gene HCN4 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 8 False 3 0;0;0 1.12 False ENSG00000138622 ENSG00000138622 HGNC:16882 KCNE1 gene KCNE1 Expert Review Green Cardiac arrhythmias - previous panel BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Catecholaminergic polymorphic ventricular tachycardia;Long QT syndrome-5;Long QT syndrome doi:10. 1007/ s12265-016-9673-5;16818210 False 3 0;0;0 1.12 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 False 3 0;0;0 1.12 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNE3 gene KCNE3 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome;Brugada syndrome 6;Long QT syndrome 19306396;doi:10. 1007/ s12265-016-9673-5 False 3 0;0;0 1.12 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNH2 gene KCNH2 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada;Long QT syndrome 2 613688;cardiac arrest;ventricular fibrillation;Brugada/Brugada like syndrome;Long QT syndrome-2;short qt;Short QT syndrome 1 609620;atrial fibrillation 16043162;19439805;14676148;18692916;21130771;16039272;19174314;16011830;19340359;29085299;25974115;22194679;29016797;15828882;29759541 False 3 0;0;0 1.12 False Other - please provide details in the comments ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted LONG QT SYNDROME 7 (170390);ventricular tacyarrhythmia;Short QT syndrome 3 609622;short qt;catecholaminergic polymorphic ventricular tachycardia;ANDERSEN SYNDROME (170390);atrial fibrillation 23440193;12163457;15761194;22308236;24794859;19710529;22311718;22155372;25691870;19285083 False 3 0;0;0 1.12 False Other - please provide details in the comments ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 13 False 3 0;0;0 1.12 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNQ1 gene KCNQ1 Expert Review Green Cardiac arrhythmias - previous panel BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Short QT-interval syndrome;Idiopathic Ventricular Fibrillation;Short QT syndrome 2 609621;Long QT syndrome-1 15159330;26346102;29697308;25974115;26168993;16109388 False 3 0;0;0 1.12 False ENSG00000053918 ENSG00000053918 HGNC:6294 RYR2 gene RYR2 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Catecholaminergic polymorphic ventricular tachycardia;Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772;Arrhythmogenic right ventricular cardiomyopathy;catecholaminergic polymorphic ventricular tachycardia;Long QT syndrome 21126784;doi:10. 1007/ s12265-016-9673-5 False 3 0;0;0 1.12 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN10A gene SCN10A Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown J wave syndrome;sudden death;short QT 29016797;24998131;30177317 False 3 0;0;0 1.12 False ENSG00000185313 ENSG00000185313 HGNC:10582 SCN1B gene SCN1B Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 5 False 3 0;0;0 1.12 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN3B gene SCN3B Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 7 False 3 0;0;0 1.12 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN5A gene SCN5A Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 1;Long QT syndrome-3;Brugada syndrome 1 601144 29697308;7889574;28391114;22490985;doi:10. 1007/ s12265-016-9673-5 False 3 0;0;0 1.12 False ENSG00000183873 ENSG00000183873 HGNC:10593 SLC22A5 gene SLC22A5 Expert Review Green Cardiac arrhythmias - previous panel BIALLELIC, autosomal or pseudoautosomal cardiomyopathy;Carnitine deficiency, systemic primary 212140;primary carnitine deficiency;short QT;arrhythmia 29198778;7254270;26190315;7131143 False 3 0;0;0 1.12 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC4A3 gene SLC4A3 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ventricular fibrillation;cardiac arrest;short QT 29697308;29167417 False 3 0;0;0 1.12 False ENSG00000114923 ENSG00000114923 HGNC:11029 SNTA1 gene SNTA1 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 12 612955 False 3 0;0;0 1.12 False ENSG00000101400 ENSG00000101400 HGNC:11167 TNNI3K gene TNNI3K Expert Review Green;Literature Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiac conduction disease with or without dilated cardiomyopathy 616117 24925317;25791106;29355681 False 3 100;0;0 1.12 False ENSG00000116783 ENSG00000116783 HGNC:19661 TRDN gene TRDN Expert Review Green Cardiac arrhythmias - previous panel BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness;catecholaminergic polymorphic ventricular tachycardia False 3 0;0;0 1.12 False ENSG00000186439 ENSG00000186439 HGNC:12261 TRPM4 gene TRPM4 Expert Review Green Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Progressive familial heart block, type IB 604559 http://www.ncbi.nlm.nih.gov/pubmed/23382873 False 3 0;0;0 1.12 False ENSG00000130529 ENSG00000130529 HGNC:17993 CACNA2D1 gene CACNA2D1 Expert Review Amber Cardiac arrhythmias - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada/Brugada like syndrome;Brugada syndrome;Short QT syndrome 6;short qt;aborted sudden death 29697308;21383000;29759541 False 2 0;0;0 1.12 False ENSG00000153956 ENSG00000153956 HGNC:1399