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 West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Brugada syndrome (Version 1.7);UKGTN;Expert Review Green;Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Literature Cardiac arrhythmias Cardiology 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 14.21 False ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list Cardiac arrhythmias Cardiology 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;CACNA1C-related disorder 18250309;15454078;25633834;24728418 False 3 86;14;0 14.21 False ENSG00000151067 ENSG00000151067 HGNC:1390 CALM1 gene CALM1 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 4, OMIM:614916 27761157;19121813 False 3 83;17;0 14.21 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM1 gene CALM1 Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 14;Ventricular tachycardia, catecholaminergic polymorphic, 4 False 3 33;67;0 14.21 False ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 South West GLH;London South GLH;Expert Review Green;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550 24917665;27100291;27114410;33200177 False 3 80;20;0 14.21 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM2 gene CALM2 Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 15, OMIM:616249;long QT syndrome 15, MONDO:0014550 24917665;27100291;27114410;33200177 False 3 40;40;20 14.21 False ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Green;South West GLH;London South GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ventricular tachycardia, catecholaminergic polymorphic 6, OMIM:618782 27516456 False 3 20;60;20 14.21 False ENSG00000160014 ENSG00000160014 HGNC:1449 CALM3 gene CALM3 Expert Review Green;South West GLH;Oxford Medical Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Ventricular tachycardia, catecholaminergic polymorphic 6, 618782;Long QT syndrome 16,618782 False 3 20;60;20 14.21 False ENSG00000160014 ENSG00000160014 HGNC:1449 CASQ2 gene CASQ2 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, OMIM:611938 27761157;19121813;16908766 False 3 86;14;0 14.21 False ENSG00000118729 ENSG00000118729 HGNC:1513 GNB5 gene GNB5 NHS GMS;Expert Review Green;Literature Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173;Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182 27523599;28697420;29368331;33172956 False 3 100;0;0 14.21 False ENSG00000069966 ENSG00000069966 HGNC:4401 KCNE1 gene KCNE1 Expert Review Green;Emory Genetics Laboratory;Expert list;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Cardiac arrhythmias Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, OMIM:612347;Long QT syndrome 5, OMIM:613695 19716085;31983240;11692163 False 3 75;25;0 14.21 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH2 gene KCNH2 West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Long QT syndrome (Version 1.5);Brugada syndrome (Version 1.7);Expert Review Green;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;UKGTN;Literature Cardiac arrhythmias Cardiology 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 14.21 False Other ENSG00000055118 ENSG00000055118 HGNC:6251 KCNH2 gene KCNH2 Expert Review Green;Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1 (609620);Long QT syndrome-2;Long QT syndrome-2 (613688) 19716085;31358886;26888179;7889573;9927399;36269083 False 3 86;14;0 14.21 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Emory Genetics Laboratory;Expert list Cardiac arrhythmias Cardiology 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 19716085;26888179;11371347;12163457 False 3 86;14;0 14.21 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ2 gene KCNJ2 West Midlands, Oxford and Wessex GLH;South West GLH;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green;Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Literature Cardiac arrhythmias Cardiology 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 14.21 False Other ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ1 gene KCNQ1 Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cardiac arrhythmias Cardiology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome (220400);Atrial fibrillation, familial, 3 (607554);Long QT syndrome-1 (192500);Long QT syndrome-1;Short QT syndrome 2 (609621) 19716085;26888179;8528244;9927399 False 3 86;14;0 14.21 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ1 gene KCNQ1 West Midlands, Oxford and Wessex GLH;Expert Review Green;South West GLH;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;UKGTN;Long QT syndrome (Version 1.5);Emory Genetics Laboratory;Other Cardiac arrhythmias Cardiology 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 14.21 True ENSG00000053918 ENSG00000053918 HGNC:6294 RYR2 gene RYR2 South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular tachycardia, catecholaminergic polymorphic, 1, OMIM:604772 27761157;19121813;16391617 False 3 86;14;0 14.21 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A South West GLH;London South GLH;North West GLH;Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 1, 601144;Brugada syndrome 1, MONDO:0011001 20031634;27761167;29959160;https://search.clinicalgenome.org/kb/gene-validity/10165 False 3 100;0;0 14.21 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Eligibility statement prior genetic testing;Expert list;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cardiac arrhythmias Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ventricular fibrillation, familial, 1 (603829);Brugada syndrome 1 (601144);Heart block, nonprogressive (113900);Heart block, progressive, type IA (113900);{Sudden infant death syndrome, susceptibility to} (272120);Sick sinus syndrome 1 (608567);Long QT syndrome-3;Long QT syndrome-3 (603830);Cardiomyopathy, dilated, 1E (601154);Atrial fibrillation, familial, 10 (614022) 19716085;29798782;26888179;7889574;29728395 False 3 86;14;0 14.21 False ENSG00000183873 ENSG00000183873 HGNC:10593 TECRL gene TECRL NHS GMS;Expert Review Green;South West GLH Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3, OMIM:614021 27861123;30790670;32173957;33367594 False 3 75;25;0 14.21 False ENSG00000205678 ENSG00000205678 HGNC:27365 TRDN gene TRDN South West GLH;London South GLH;North West GLH;Expert Review Green;UKGTN;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Cardiac arrhythmias Cardiology BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, OMIM:615441 26200674 False 3 83;17;0 14.21 False ENSG00000186439 ENSG00000186439 HGNC:12261