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 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 11 (612098);Left ventricular noncompaction 4 (613424);Cardiomyopathy, dilated, 1R (613424);Cardiomyopathy, dilated, 1R;Atrial septal defect 5 (612794) 26061005;27532257 False 3 50;17;33 3.13 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158);Cardiomyopathy, dilated, 1AA, with or without LVNC (612158);Dilated Cardiomyopathy, Dominant 25224718;27532257;26312134 False 3 43;43;14 3.13 False ENSG00000077522 ENSG00000077522 HGNC:164 BAG3 gene BAG3 Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1HH, 613881;Myopathy, myofibrillar, 6, 612954 30442290;28737513;28211974 False 3 100;0;0 3.13 False ENSG00000151929 ENSG00000151929 HGNC:939 CDH2 gene CDH2 Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 50;50;0 3.13 False ENSG00000170558 ENSG00000170558 HGNC:1759 DES gene DES Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Scapuloperoneal syndrome, neurogenic, Kaeser type (181400);Myopathy, myofibrillar, 1 (601419);Cardiomyopathy, dilated, 1I, (604765);Cardiomyopathy, dilated, 1I, 20186049;27532257 False 3 57;14;29 3.13 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;Literature;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Becker muscular dystrophy, 300376;Cardiomyopathy, dilated, 3B, 302045;Duchenne muscular dystrophy, 310200 GeneReviews: Dystrophinopathies False 3 100;0;0 3.13 False ENSG00000198947 ENSG00000198947 HGNC:2928 DOLK gene DOLK Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal False 3 50;50;0 3.13 False ENSG00000175283 ENSG00000175283 HGNC:23406 DSC2 gene DSC2 Expert List;Expert Review Green;London South GLH;North West GLH;South West GLH Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476);Arrhythmogenic right ventricular dysplasia 11;Arrhythmogenic right ventricular dysplasia 11 (610476) 23500315;27532257 False 3 86;14;0 3.13 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Expert List;Expert Review Green;London South GLH;North West GLH;South West GLH Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 10;Arrhythmogenic right ventricular dysplasia 10 (610193);Cardiomyopathy, dilated, 1BB (612877) 23500315;27532257 False 3 86;14;0 3.13 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP Expert List;Expert Review Green;London South GLH;North West GLH;South West GLH Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR);Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD);Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD) 23500315;27532257;35348702 False 3 86;14;0 3.13 False ENSG00000096696 ENSG00000096696 HGNC:3052 EMD gene EMD Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females False 3 50;50;0 3.13 False ENSG00000102119 ENSG00000102119 HGNC:3331 FLNC gene FLNC Expert Review Green;Literature;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883;Myopathy, myofibrillar, 5, OMIM:609524;Myopathy, myofibrillar, 5, MONDO:0012289 30067491;28008423 False 3 100;0;0 3.13 False ENSG00000128591 ENSG00000128591 HGNC:3756 JUP gene JUP Expert List;Expert Review Green;London South GLH;North West GLH;South West GLH Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 23500315;27532257 False 3 86;14;0 3.13 False ENSG00000173801 ENSG00000173801 HGNC:6207 LAMP2 gene LAMP2 Expert Review Green;Literature;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease (300257) 21415759;12084876 False 3 100;0;0 3.13 False ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muscular dystrophy, congenital (613205);Malouf syndrome (212112);Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350);Heart-hand syndrome, Slovenian type (610140);Hutchinson-Gilford progeria (176670);Cardiomyopathy, dilated, 1A (115200);Restrictive dermopathy, lethal (275210);Lipodystrophy, familial partial, type 2 (151660);Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516);Charcot-Marie-Tooth disease, type 2B1 (605588);Mandibuloacral dysplasia (248370);Cardiomyopathy, dilated, 1A 20186049;27532257;35348702 False 3 71;14;14 3.13 False ENSG00000160789 ENSG00000160789 HGNC:6636 MYBPC3 gene MYBPC3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1MM;Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM (615396) 20186049;27532257 False 3 33;33;33 3.13 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH7 gene MYH7 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262;Laing distal myopathy, OMIM:160500;Laing early-onset distal myopathy, MONDO:0008050 20186049;27532257 False 3 83;17;0 3.13 False ENSG00000092054 ENSG00000092054 HGNC:7577 NEXN gene NEXN Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1CC, OMIM:613122;Cardiomyopathy, dilated, 2M, autosomal recessive, OMIM:621261 19881492;27532257;32058062;33027564;33949776;35166435 False 3 38;50;12 3.13 False ENSG00000162614 ENSG00000162614 HGNC:29557 NKX2-5 gene NKX2-5 Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 3.13 False ENSG00000183072 ENSG00000183072 HGNC:2488 PKP2 gene PKP2 Expert List;Expert Review Green;London South GLH;North West GLH;South West GLH Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy;Arrhythmogenic right ventricular dysplasia 9;Arrhythmogenic right ventricular dysplasia 9 (609040) 23500315;27532257 False 3 86;14;0 3.13 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, dilated, 1P;Cardiomyopathy, hypertrophic, 18 (613874) 20186049;27532257 False 3 71;14;14 3.13 False ENSG00000198523 ENSG00000198523 HGNC:9080 PPA2 gene PPA2 Expert Review;Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, OMIM:617222;?Sudden cardiac failure, alcohol-induced, OMIM:617223 34400813 False 3 100;0;0 3.13 False ENSG00000138777 ENSG00000138777 HGNC:28883 PRDM16 gene PRDM16 Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1LL, OMIM:615373;Left ventricular noncompaction 8, OMIM:615373;left ventricular noncompaction 8, MONDO:0014152 24387996;24387995;29367541;29447731;30847666;33082984;32183154;33500567;34540771;34350506;34935411;35862303;32083975 False 3 80;20;0 3.13 False ENSG00000142611 ENSG00000142611 HGNC:14000 RBM20 gene RBM20 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD;Cardiomyopathy, dilated, 1DD (613172) 20186049;27532257 False 3 83;17;0 3.13 False ENSG00000203867 ENSG00000203867 HGNC:27424 RYR2 gene RYR2 Expert List;Expert Review Green;London South GLH;South West GLH;Wessex and West Midlands GLH Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2;Arrhythmogenic right ventricular dysplasia 2 (600996);Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772) 20301310;19926015;17875969;25163546;32748945 False 3 44;44;11 3.13 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1E 20186049;27532257;35701104 False 3 83;17;0 3.13 False ENSG00000183873 ENSG00000183873 HGNC:10593 TBX20 gene TBX20 Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Atrial septal defect 4, OMIM:611363;atrial septal defect 4, MONDO:0012654;Dilated cardiomyopathy, MONDO:0005021 17668378;19762328;37657916;33585493;29089047;35282022 False 3 67;33;0 3.13 False ENSG00000164532 ENSG00000164532 HGNC:11598 TMEM43 gene TMEM43 Expert List;Expert Review Green;London South GLH;North West GLH;South West GLH Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5;Arrhythmogenic right ventricular dysplasia 5 (604400);Emery-Dreifuss muscular dystrophy 7, AD (614302) 23812740;27532257 False 3 86;14;0 3.13 False ENSG00000170876 ENSG00000170876 HGNC:28472 TNNC1 gene TNNC1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 13 (613243);Cardiomyopathy, dilated, 1Z;Cardiomyopathy, dilated, 1Z (611879) 20186049;27532257 False 3 50;33;17 3.13 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1FF (613286);Cardiomyopathy, dilated, 2A,;?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, dilated, 1FF;Cardiomyopathy, hypertrophic, 7 (613690) 20186049;27532257;21533915 False 3 83;17;0 3.13 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert Review Green;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 50;50;0 3.13 False ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D;Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Cardiomyopathy, dilated, 1D (601494);Left ventricular noncompaction 6 (601494) 20186049;27532257;20031601 False 3 83;17;0 3.13 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y;Cardiomyopathy, dilated, 1Y (611878);Cardiomyopathy, hypertrophic, 3 (115196);Left ventricular noncompaction 9 ( 611878) 20186049;27532257 False 3 83;17;0 3.13 False ENSG00000140416 ENSG00000140416 HGNC:12010 TTN gene TTN Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myopathy, proximal, with early respiratory muscle involvement (603689);Cardiomyopathy, familial hypertrophic, 9 (613765);Tibial muscular dystrophy, tardive (600334);Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807);Cardiomyopathy, dilated, 1G (604145);Salih myopathy (611705);Cardiomyopathy, dilated, 1G 20186049;27532257;22335739;25589632;29238064;26777568;27869827 False 3 71;14;14 3.13 False ENSG00000155657 ENSG00000155657 HGNC:12403 VCL gene VCL Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W;Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, hypertrophic, 15 (613255) 20186049;27532257 False 3 83;17;0 3.13 False ENSG00000035403 ENSG00000035403 HGNC:12665