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 CALM3 gene CALM3 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ventricular tachycardia, catecholaminergic polymorphic 6, MIM# 618782" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27516456;31170290;31454269 False 2 33;33;33 2.5 True ENSG00000160014 ENSG00000160014 HGNC:1449 CAV3 gene CAV3 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 9, MIM# 611818 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240;17060380 False 2 0;100;0 2.5 True ENSG00000182533 ENSG00000182533 HGNC:1529 CDH2 gene CDH2 Expert Review Amber;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 2 0;100;0 2.5 True ENSG00000170558 ENSG00000170558 HGNC:1759 CTNNA3 gene CTNNA3 Expert Review Amber;Other Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 23136403;21254927;22421363;30415094;31539150 False 2 0;100;0 2.5 False ENSG00000183230 ENSG00000183230 HGNC:2511 DOLK gene DOLK Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Im MIM#610768" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31741824;28816422;24144945;22242004 False 2 0;100;0 2.5 True ENSG00000175283 ENSG00000175283 HGNC:23406 DSG2 gene DSG2 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia, 10, 610193;Cardiomyopathy, dilated, 1BB, 612877 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 23071725;33949662;18678517;21859740;28764973;35941102 False 2 50;50;0 2.5 True ENSG00000046604 ENSG00000046604 HGNC:3049 EMD gene EMD Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 24997722 False 2 0;100;0 2.5 True ENSG00000102119 ENSG00000102119 HGNC:3331 FKTN gene FKTN Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1X MIM#611615 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17036286;19015585 False 2 0;100;0 2.5 True ENSG00000106692 ENSG00000106692 HGNC:3622 GATA6 gene GATA6 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 25119427;31301121;20705924 False 2 0;100;0 2.5 True ENSG00000141448 ENSG00000141448 HGNC:4174 GJA5 gene GJA5 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 11, OMIM# 614049 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 16790700;20818502;20650941;23348765 False 2 50;50;0 2.5 True ENSG00000143140 ENSG00000265107 HGNC:4279 GYG1 gene GYG1 Expert Review Amber;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic Cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27718144;20357282;31628455 False 2 0;100;0 2.5 True ENSG00000163754 ENSG00000163754 HGNC:4699 JPH2 gene JPH2 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, MIM#613873 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346;17509612;23973696;26869393;28393127;30235249 False 2 0;100;0 2.5 True ENSG00000149596 ENSG00000149596 HGNC:14202 JPH2 gene JPH2 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cardiomyopathy, dilated, 2E, MIM# 619492 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29540472;31227780;29165669;27471098;30384889;31227780;10949023;23715556 False 2 0;100;0 2.5 True ENSG00000149596 ENSG00000149596 HGNC:14202 JUP gene JUP Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Arrhythmogenic right ventricular dysplasia 12 (MIM#611528);Naxos disease, MIM# 601214" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 2 0;100;0 2.5 True ENSG00000173801 ENSG00000173801 HGNC:6207 KBTBD13 gene KBTBD13 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intrinsic cardiomyopathy MONDO:0000591 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 36335629 False 2 0;100;0 2.5 True ENSG00000234438 ENSG00000234438 HGNC:37227 KCNA5 gene KCNA5 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 7, MIM# 612240 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 16772329;19343045;23264583 False 2 0;100;0 2.5 True ENSG00000130037 ENSG00000130037 HGNC:6224 KCNE1 gene KCNE1 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2, MIM# 612347;Long QT syndrome 5, MIM# 613695;Acquired LQTS Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 2 0;100;0 2.5 True ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240;28794082 False 2 0;100;0 2.5 True ENSG00000159197 ENSG00000159197 HGNC:6242 LDB3 gene LDB3 Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26419279;16427346;14660611;14662268 False 2 0;100;0 2.5 True ENSG00000122367 ENSG00000122367 HGNC:15710 LEMD2 gene LEMD2 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31061923;26788539;30905398;36377660 False 2 0;100;0 2.5 True ENSG00000161904 ENSG00000161904 HGNC:21244 LMNA gene LMNA Expert Review Amber;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, dilated, 1A, MIM# 115200;Arrhythmogenic right ventricular cardiomyopathy" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 22199124;25837155;26620845 False 2 0;100;0 2.5 True ENSG00000160789 ENSG00000160789 HGNC:6636 NEBL gene NEBL Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27186169 False 2 100;0;0 2.5 True ENSG00000078114 ENSG00000078114 HGNC:16932 NEBL gene NEBL Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27186169 False 2 100;0;0 2.5 True ENSG00000078114 ENSG00000078114 HGNC:16932 NPPA gene NPPA Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 6, (MIM#612201) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 18614783;20064500;31034774;31077706 False 2 0;100;0 2.5 True ENSG00000175206 ENSG00000175206 HGNC:7939 PLEKHM2 gene PLEKHM2 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 35862026;26464484;38942823;38490981;37349842 False 2 0;100;0 2.5 True ENSG00000116786 ENSG00000116786 HGNC:29131 PLN gene PLN Expert Review Amber;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 22820313;33831308 False 2 0;100;0 2.5 True ENSG00000198523 ENSG00000198523 HGNC:9080 RPS6KB1 gene RPS6KB1 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 34916228 False 2 100;0;0 2.5 True ENSG00000108443 ENSG00000108443 HGNC:10436 SLC6A6 gene SLC6A6 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350;Early retinal degeneration;cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31345061;31903486;29886034 False 2 0;100;0 2.5 True ENSG00000131389 ENSG00000131389 HGNC:11052 TMEM43 gene TMEM43 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 18313022;21214875;23812740;22725725;24598986 False 2 0;100;0 2.5 True ENSG00000170876 ENSG00000170876 HGNC:28472 TTN gene TTN Expert Review Amber;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27625337;31628103 False 2 0;100;0 2.5 True ENSG00000155657 ENSG00000155657 HGNC:12403 TULP3 gene TULP3 Expert Review Amber;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, MIM# 619902 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 35397207 False 2 100;0;0 2.5 True ENSG00000078246 ENSG00000078246 HGNC:12425