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 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 8, MIM# 618447;Timothy syndrome, MIM# 601005" 31983240 False 3 100;0;0 5.1 True ENSG00000151067 ENSG00000151067 HGNC:1390 CALM1 gene CALM1 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 14 616247;Ventricular tachycardia, catecholaminergic polymorphic, 4 614916" 31170290 False 3 100;0;0 5.1 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM1 gene CALM1 Expert Review Green;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 14, MIM# 616247" False 3 100;0;0 5.1 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Green;Expert list Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 15, MIM# 616249" PMID: 31983240 False 3 100;0;0 5.1 True ENSG00000143933 ENSG00000143933 HGNC:1445 CALM2 gene CALM2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 15 616249;sudden unexplained death;idopathic VF" 31170290 False 3 0;0;0 5.1 True ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Green;Expert list Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 16, MIM# 618782" 25460178;31454269 False 3 100;0;0 5.1 True ENSG00000160014 ENSG00000160014 HGNC:1449 CASQ2 gene CASQ2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938" 16908766;11704930 False 3 100;0;0 5.1 True ENSG00000118729 ENSG00000118729 HGNC:1513 DES gene DES Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted heart conduction disease MONDO:0000992 39252922;16376610;16890305 False 3 100;0;0 5.1 True ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES Expert Review Green;Expert list Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 19879535, 20423733, 23168288, 20829228, 22403400, 29212896, 22395865, 20718792 False 3 100;0;0 5.1 True ENSG00000175084 ENSG00000175084 HGNC:2770 DSC2 gene DSC2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11, MIM# 610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 17963498;21062920;23863954;17186466;18957847;17033975;28339476;33831308 False 3 100;0;0 5.1 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 33831308;39253717;30454721;33917638 False 3 100;0;0 5.1 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, MIM# 607450;Carvajal syndrome 15941723;25765472;23954618;20864495;21397041;24938629;22240500;31073624;30345701;11063735;33831308 False 3 100;0;0 5.1 True ENSG00000096696 ENSG00000096696 HGNC:3052 EMD gene EMD Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females heart conduction disease MONDO:0000992 32755394;31802929;11385714 False 3 100;0;0 5.1 False ENSG00000102119 ENSG00000102119 HGNC:3331 FLNC gene FLNC Expert Review Green;Expert list Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy 31924696;31627847 False 3 50;50;0 5.1 True ENSG00000128591 ENSG00000128591 HGNC:3756 GLA gene GLA Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Fabry disease MONDO:0010526" 34067605;34266644;31286959;28668140 False 3 100;0;0 5.1 True ENSG00000102393 ENSG00000102393 HGNC:4296 HCN4 gene HCN4 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome MONDO:0001823 21220308;15123648;29447731;12750403;16407510;17646576;25145518 False 3 100;0;0 5.1 True ENSG00000138622 ENSG00000138622 HGNC:16882 JUP gene JUP Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 12 MIM# 611528;Naxos disease MIM# 601214 16722579;17924338;33831308 False 3 100;0;0 5.1 True ENSG00000173801 ENSG00000173801 HGNC:6207 KCNH2 gene KCNH2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 34557911 False 3 100;0;0 5.1 True Other ENSG00000055118 ENSG00000055118 HGNC:6251 KCNH2 gene KCNH2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted long QT syndrome 31983240 False 3 100;0;0 5.1 True ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted long QT syndrome;Andersen-Tawil syndrome 31983240 False 3 100;0;0 5.1 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 34557911 False 3 100;0;0 5.1 True Other ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ1 gene KCNQ1 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1;bradycardia;atrial fibrillation 34557911 False 3 100;0;0 5.1 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ1 gene KCNQ1 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Atrial fibrillation, familial, 3 607554;Jervell and Lange-Nielsen syndrome 220400;Long QT syndrome 1, 192500;Short QT syndrome 2 609621 20301308 False 3 100;0;0 5.1 True ENSG00000053918 ENSG00000053918 HGNC:6294 LAMP2 gene LAMP2 Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease MONDO:0010281 25228319;30857840 False 3 100;0;0 5.1 True ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted atrioventricular block MONDO:0000465 18035086;27884249;20301717 False 3 100;0;0 5.1 True ENSG00000160789 ENSG00000160789 HGNC:6636 NKX2-5 gene NKX2-5 Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted NKX2.5-related congenital, conduction and myopathic heart disease MONDO:0800441 28259982;15109497;37697673 False 3 100;0;0 5.1 True ENSG00000183072 ENSG00000183072 HGNC:2488 PKP2 gene PKP2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 33831308 False 3 100;0;0 5.1 True ENSG00000057294 ENSG00000057294 HGNC:9024 POPDC2 gene POPDC2 Expert Review Green;Literature;Other Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367 39006410;32535041 False 3 100;0;0 5.1 True ENSG00000121577 ENSG00000121577 HGNC:17648 PRKAG2 gene PRKAG2 Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PRKAG2-related cardiomyopathy MONDO:0800484 26729852;32646569 False 3 100;0;0 5.1 True ENSG00000106617 ENSG00000106617 HGNC:9386 RYR2 gene RYR2 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 False 3 100;0;0 5.1 True ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 3 (MIM#603830) 29798782 False 3 100;0;0 5.1 True ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 10;Brugada syndrome 1;Cardiomyopathy, dilated, 1E;Heart block, nonprogressive;Heart block, progressive, type IA;Long QT syndrome 3;Sick sinus syndrome 1;Ventricular fibrillation, familial, 1;{Sudden infant death syndrome, susceptibility to} 29806494;18929244 False 3 100;0;0 5.1 True Other ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular fibrillation, familial, 1, MIM# 603829 10940383;33221895;33133318;33084224 False 3 100;0;0 5.1 True ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal progressive familial heart block MONDO:0019490;SCN5A-related cardiac rhythm disorder MONDO:1010181 39134129;11804990;16643399;15466643 False 3 100;0;0 5.1 False ENSG00000183873 ENSG00000183873 HGNC:10593 SLC4A3 gene SLC4A3 Expert Review Green;Expert Review Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 7, MIM#620231 29167417;34557911;36806574 False 3 67;33;0 5.1 True ENSG00000114923 ENSG00000114923 HGNC:11029 TBX5 gene TBX5 Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome MONDO:0007732 20301290 False 3 100;0;0 5.1 True ENSG00000089225 ENSG00000089225 HGNC:11604 TECRL gene TECRL Expert Review Green;Literature Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021" 17666061;27861123;30790670;33367594 False 3 100;0;0 5.1 True ENSG00000205678 ENSG00000205678 HGNC:27365 TMEM43 gene TMEM43 Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 18313022;21214875;23812740;22725725;24598986;29980933;33831308 False 3 100;0;0 5.1 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNNI3K gene TNNI3K Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted atrial conduction disease MONDO:0014500 25791106;24925317;30010057;29355681 False 3 100;0;0 5.1 True ENSG00000116783 ENSG00000116783 HGNC:19661 TRDN gene TRDN Expert Review Green;Victorian Clinical Genetics Services Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Triadin knockout syndrome;CPVT;atypical LQTS phenotype 30649896;25922419;22422768 False 3 100;0;0 5.1 True ENSG00000186439 ENSG00000186439 HGNC:12261 TRDN gene TRDN Expert Review Green;Expert list Arrhythmia_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Long QT syndrome;Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441" 31983240;25922419 False 3 100;0;0 5.1 True ENSG00000186439 ENSG00000186439 HGNC:12261 TTR gene TTR Expert Review Green;NHS GMS Arrhythmia_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary amyloidosis MONDO:0018634 35074177;39196575 False 3 100;0;0 5.1 True ENSG00000118271 ENSG00000118271 HGNC:12405