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 ACTC1 gene ACTC1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1R, MIM# 613424 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31430208;30384889;9563954;14605248;20600154;26432839 False 3 100;0;0 2.5 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTC1 gene ACTC1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 11 612098" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 3 100;0;0 2.5 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 20474083;25224718;22253474;14567970: False 3 50;50;0 2.5 True ENSG00000077522 ENSG00000077522 HGNC:164 ACTN2 gene ACTN2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 50;50;0 2.5 True ENSG00000077522 ENSG00000077522 HGNC:164 ALPK3 gene ALPK3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26846950;27106955;32480058 False 3 100;0;0 2.5 True ENSG00000136383 ENSG00000136383 HGNC:17574 ALPK3 gene ALPK3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Cardiomyopathy, familial hypertrophic 27, MIM# 618052" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26846950;27106955;32480058;34263907;35783621 False 3 100;0;0 2.5 True ENSG00000136383 ENSG00000136383 HGNC:17574 BAG3 gene BAG3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1HH, MIM# 613881;MONDO:0013479 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 21353195;25008357;25448463;24623017;27391596;28211974;30442290;31983221;28737513;29323723;33947203 False 3 100;0;0 2.5 True ENSG00000151929 ENSG00000151929 HGNC:939 BAG5 gene BAG5 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, dilated, 2F, MIM# 619747" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 35044787 False 3 100;0;0 2.5 True ENSG00000166170 ENSG00000166170 HGNC:941 C10orf71 gene C10orf71 Expert Review Green;Other Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dilated cardiomyopathy MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 38950288 False 3 100;0;0 2.5 True ENSG00000177354 ENSG00000177354 HGNC:26973 CACNA1C gene CACNA1C Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26253506;28490369;28866666;39132495 False 3 0;100;0 2.5 True ENSG00000151067 ENSG00000151067 HGNC:1390 CACNA1C gene CACNA1C Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 8, MIM# 618447;Timothy syndrome, MIM# 601005" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 3 100;0;0 2.5 True ENSG00000151067 ENSG00000151067 HGNC:1390 CALM1 gene CALM1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 14 616247;Ventricular tachycardia, catecholaminergic polymorphic, 4 614916" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31170290 False 3 100;0;0 2.5 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM1 gene CALM1 Expert Review Green;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 14, MIM# 616247" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 3 100;0;0 2.5 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 15, MIM# 616249" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 31983240 False 3 100;0;0 2.5 True ENSG00000143933 ENSG00000143933 HGNC:1445 CALM2 gene CALM2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 15 616249;sudden unexplained death;idopathic VF" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31170290 False 3 0;0;0 2.5 True ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Long QT syndrome 16, MIM# 618782" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 25460178;31454269 False 3 100;0;0 2.5 True ENSG00000160014 ENSG00000160014 HGNC:1449 CAP2 gene CAP2 Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2I (MIM#620462) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 30518548;33083013;34862840 False 3 100;0;0 2.5 True ENSG00000112186 ENSG00000112186 HGNC:20039 CASQ2 gene CASQ2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 16908766;11704930 False 3 100;0;0 2.5 True ENSG00000118729 ENSG00000118729 HGNC:1513 CSRP3 gene CSRP3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 12, MIM# 612124" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 18505755;30681346 False 3 100;0;0 2.5 True ENSG00000129170 ENSG00000129170 HGNC:2472 DES gene DES Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, dilated, 1I, MIM# 604765;Myopathy, myofibrillar, 1 , MIM#601419;Arrhythmogenic right ventricular cardiomyopathy" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 19879535;20423733;24200904;22395865;29212896;23168288;20829228 False 3 100;0;0 2.5 True ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1I, MIM# 604765;MONDO:0011482 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 10430757;11728149;17325244;23300193;31514951;26724190;23349452;25557463;33947203 False 3 100;0;0 2.5 True ENSG00000175084 ENSG00000175084 HGNC:2770 DES gene DES Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Desminopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 39132495 False 3 0;0;100 2.5 True ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Cardiomyopathy, dilated, 3B (MIM#302045) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26066469 False 3 100;0;0 2.5 True ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac 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 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17963498;21062920;23863954;17186466;18957847;17033975;28339476;33831308 False 3 100;0;0 2.5 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 33831308 False 3 100;0;0 2.5 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, MIM# 607450;Carvajal syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 15941723;25765472;23954618;20864495;21397041;24938629;22240500;31073624;30345701;11063735;33831308 False 3 100;0;0 2.5 True ENSG00000096696 ENSG00000096696 HGNC:3052 DSP gene DSP Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821;Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983221;24108106 False 3 100;0;0 2.5 True ENSG00000096696 ENSG00000096696 HGNC:3052 FHL1 gene FHL1 Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 3 100;0;0 2.5 True ENSG00000022267 ENSG00000022267 HGNC:3702 FHOD3 gene FHOD3 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 32335906;31742804;30442288;33586461 False 3 100;0;0 2.5 True ENSG00000134775 ENSG00000134775 HGNC:26178 FKRP gene FKRP Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 32914449 False 3 100;0;0 2.5 True ENSG00000181027 ENSG00000181027 HGNC:17997 FLNC gene FLNC Expert Review Green;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 26 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31924696;28356264;30411535 False 3 100;0;0 2.5 True ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC Expert Review Green;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 30067491;28008423;31245841;28436997;32112656;33947203 False 3 100;0;0 2.5 True ENSG00000128591 ENSG00000128591 HGNC:3756 FLNC gene FLNC Expert Review Green;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 31924696;31627847 False 3 50;50;0 2.5 True ENSG00000128591 ENSG00000128591 HGNC:3756 GLA gene GLA Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease (MIM# 301500) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 50;0;50 2.5 True ENSG00000102393 ENSG00000102393 HGNC:4296 HCN4 gene HCN4 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sick sinus syndrome 2, MIM# 163800 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 12750403;15123648;16407510;17646576;25145518 False 3 100;0;0 2.5 True ENSG00000138622 ENSG00000138622 HGNC:16882 JUP gene JUP Expert Review Green;Victorian Clinical Genetics Services 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 16722579;17924338;33831308 False 3 100;0;0 2.5 True ENSG00000173801 ENSG00000173801 HGNC:6207 KCNH2 gene KCNH2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 34557911 False 3 100;0;0 2.5 True Other ENSG00000055118 ENSG00000055118 HGNC:6251 KCNH2 gene KCNH2 Expert Review Green;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 False 3 100;0;0 2.5 True ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 34557911 False 3 100;0;0 2.5 True Other ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ2 gene KCNJ2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted long QT syndrome;Andersen-Tawil syndrome Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240 False 3 100;0;0 2.5 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ1 gene KCNQ1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 1;bradycardia;atrial fibrillation Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 34557911 False 3 100;0;0 2.5 True ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ1 gene KCNQ1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac 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 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 20301308 False 3 100;0;0 2.5 True ENSG00000053918 ENSG00000053918 HGNC:6294 KLHL24 gene KLHL24 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 27798626;27889062;30715372 False 3 100;0;0 2.5 True ENSG00000114796 ENSG00000114796 HGNC:25947 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac 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 (MIM#300257) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 50;0;50 2.5 True ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac 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, MIM#300257 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 25228319;27165304 False 3 100;0;0 2.5 True ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1A, MIM# 115200 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 33947203 False 3 100;0;0 2.5 True ENSG00000160789 ENSG00000160789 HGNC:6636 MT-TI gene MT-TI Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders MITOCHONDRIAL Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 12767666;30025578;29481798 False 3 0;100;0 2.5 True ENSG00000210100 ENSG00000210100 HGNC:7488 MYBPC3 gene MYBPC3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cardiomyopathy, dilated, 1MM, 615396;Cardiomyopathy, hypertrophic, 4, 115197;Left ventricular noncompaction 10, 615396 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 20378854;30681346 False 3 100;0;0 2.5 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH7 gene MYH7 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 1, MIM# 192600" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 100;0;0 2.5 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYH7 gene MYH7 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1S, MIM# 613426;MONDO:0013262 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 21483645;30874888;21846512;30384889;25935763;24558114;27000522;31179125;24119082;27965028;33947203 False 3 100;0;0 2.5 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 10, MIM# 608758" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 100;0;0 2.5 True ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 8, MIM# 608751" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 100;0;0 2.5 True ENSG00000160808 ENSG00000160808 HGNC:7584 MYZAP gene MYZAP Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, dilated, 2K, MIM# 620894" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 34899865;35840178;38436102;20093627 False 3 100;0;0 2.5 True ENSG00000263155 ENSG00000263155 HGNC:43444 NEXN gene NEXN Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1CC, MIM# 613122 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 19881492;28416588;25163546;27532257;24503780;29540472;26659360 False 3 100;0;0 2.5 True ENSG00000162614 ENSG00000162614 HGNC:29557 NKX2-5 gene NKX2-5 Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 39018455;37326999;25503402;23661673;27855642;30354339 False 3 50;0;50 2.5 True ENSG00000183072 ENSG00000183072 HGNC:2488 PKP2 gene PKP2 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 9 (MIM#609040);Dilated cardiomyopathy, MONDO:0005021, PKP2-related;hypoplastic left heart syndrome;hydrops fetalis;ventricular septal defect;left ventricular non-compaction Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 15489853;16567567;30562116;35059364;38050058 False 3 50;50;0 2.5 True ENSG00000057294 ENSG00000057294 HGNC:9024 PKP2 gene PKP2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 33831308 False 3 100;0;0 2.5 True ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cardiomyopathy, hypertrophic, 18 (MIM #613874)" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 0;100;0 2.5 True ENSG00000198523 ENSG00000198523 HGNC:9080 PLN gene PLN Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P, MIM# 609909 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 33947203 False 3 100;0;0 2.5 True ENSG00000198523 ENSG00000198523 HGNC:9080 POPDC2 gene POPDC2 Expert Review Green;Other Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Sinoatrial node disorder, MONDO:0000469, POPDC2-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 3 100;0;0 2.5 True ENSG00000121577 ENSG00000121577 HGNC:17648 PRDM16 gene PRDM16 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1LL MIM#615373;Left ventricular noncompaction 8 MIM#615373 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 PMID: 23768516;24387995;31965688;29367541;29447731;30847666;33082984;32183154;33500567;34540771;34350506;34935411 False 3 50;50;0 2.5 True ENSG00000142611 ENSG00000142611 HGNC:14000 PRKAG2 gene PRKAG2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, MIM# 600858 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 50;0;50 2.5 True ENSG00000106617 ENSG00000106617 HGNC:9386 PTPN11 gene PTPN11 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 1 MIM# 163950 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 39132495 False 3 0;0;100 2.5 True ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1NN MIM#615916;Noonan syndrome 5 MIM#611553 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 24777450;39132495 False 3 0;0;100 2.5 True ENSG00000132155 ENSG00000132155 HGNC:9829 RBM20 gene RBM20 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD 613172 AD Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30871351;33947203 False 3 100;0;0 2.5 True ENSG00000203867 ENSG00000203867 HGNC:27424 RIT1 gene RIT1 Expert Review Green;ClinGen Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome MONDO:0018997 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 39132495 False 3 100;0;0 2.5 True Other ENSG00000143622 ENSG00000143622 HGNC:10023 RYR2 gene RYR2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 1 604772 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 False 3 100;0;0 2.5 True ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Sick sinus syndrome 1, MIM# 608567 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 14523039 False 3 100;0;0 2.5 True ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac 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} Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29806494;18929244 False 3 100;0;0 2.5 True Other ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 3 (MIM#603830) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29798782 False 3 100;0;0 2.5 True ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular fibrillation, familial, 1, MIM# 603829 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 10940383;33221895;33133318;33084224 False 3 100;0;0 2.5 True ENSG00000183873 ENSG00000183873 HGNC:10593 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1E, MIM# 601154 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 15671429;15671429;19808398;21596231;20458009;22675453;22766342;22999724;29871609;29506689;31514951;31930659;31520233;17512504;21824921;30218094 False 3 100;0;0 2.5 True ENSG00000183873 ENSG00000183873 HGNC:10593 SLC4A3 gene SLC4A3 Expert Review Green;Expert Review Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Short QT syndrome 7, MIM#620231 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 29167417;34557911;36806574 False 3 67;33;0 2.5 True ENSG00000114923 ENSG00000114923 HGNC:11029 TBX20 gene TBX20 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021, TBX20-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 26118961;17668378;27510170;35282022 False 3 50;50;0 2.5 True ENSG00000164532 ENSG00000164532 HGNC:11598 TBX5 gene TBX5 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Holt-Oram syndrome, MIM# 142900;Dilated cardiomyopathy" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 32449309;32236096;25963046;25725155 False 3 100;0;0 2.5 True ENSG00000089225 ENSG00000089225 HGNC:11604 TECRL gene TECRL Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 17666061;27861123;30790670;33367594 False 3 100;0;0 2.5 True ENSG00000205678 ENSG00000205678 HGNC:27365 TMEM43 gene TMEM43 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 18313022;21214875;23812740;22725725;24598986;29980933;33831308 False 3 100;0;0 2.5 True ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC1 gene TNNC1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Z, MIM# 611879;MONDO:0012745 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 33947203;31983221;17977476;19808376 False 3 100;0;0 2.5 True ENSG00000114854 ENSG00000114854 HGNC:11943 TNNC1 gene TNNC1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 13 (MIM# 613243) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346;11385718;8572189;21262074;22815480;26779504 False 3 0;100;0 2.5 True ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Cardiomyopathy, hypertrophic, 7, MIM# 613690" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 100;0;0 2.5 True ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3 gene TNNI3 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1FF, MIM#613286 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 15607392;22464770;31568572;19590045;20215591;21846512;2226790 False 3 100;0;0 2.5 True Other ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30010057;29355681 False 3 100;0;0 2.5 True ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D, MIM# 601494 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 33947203;11106718;20978592;20031601;15542288;17556660 False 3 100;0;0 2.5 True ENSG00000118194 ENSG00000118194 HGNC:11949 TNNT2 gene TNNT2 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 2, MIM# 115195" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346 False 3 100;0;0 2.5 True ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y, MIM# 611878 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 11273725;23147248;20117437;15249230;20215591;21483645;31983221;28600229 False 3 100;0;0 2.5 True ENSG00000140416 ENSG00000140416 HGNC:12010 TPM1 gene TPM1 Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y, 611878;Cardiomyopathy, hypertrophic, 3, 115196;Left ventricular noncompaction 9, 611878 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31270709;30681346 False 3 100;0;0 2.5 True Other ENSG00000140416 ENSG00000140416 HGNC:12010 TRDN gene TRDN Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Triadin knockout syndrome;CPVT;atypical LQTS phenotype Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30649896;25922419;22422768 False 3 100;0;0 2.5 True ENSG00000186439 ENSG00000186439 HGNC:12261 TRDN gene TRDN Expert Review Green;Expert list Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Long QT syndrome;Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983240;25922419 False 3 100;0;0 2.5 True ENSG00000186439 ENSG00000186439 HGNC:12261 TRIM63 gene TRIM63 Expert Review Green;Literature Adult Cardiac SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 30681346;32451364 False 3 100;0;0 2.5 True ENSG00000158022 ENSG00000158022 HGNC:16007 TTN gene TTN Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1G, MIM#604145 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 22335739;25589632;28045975;33947203 False 3 100;0;0 2.5 True ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related MIM#105210 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 28475415;31554435 False 3 0;100;0 2.5 True ENSG00000118271 ENSG00000118271 HGNC:12405 VCL gene VCL Expert Review Green;Victorian Clinical Genetics Services Adult Cardiac SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W, MIM# 611407 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637; Arrhythmia;HP:0011675 31983221;32516855;26406308;26458567;24062880;11815424;17785437 False 3 100;0;0 2.5 True ENSG00000035403 ENSG00000035403 HGNC:12665 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