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 ABCC9 gene ABCC9 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;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1O ;Cardiomyopathy, dilated, 1O (608569);Atrial fibrillation, familial, 12 (614050);Dilated Cardiomyopathy, Dominant 27532257;15034580 False 3 0;50;50 1.97 False ENSG00000069431 ENSG00000069431 HGNC:60 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect 5 (612794);Cardiomyopathy, hypertrophic, 11 (612098);Cardiomyopathy, dilated, 1R ;Left ventricular noncompaction 4 (613424);Cardiomyopathy, dilated, 1R (613424) 27532257;26061005 False 3 25;25;50 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1AA, with or without LVNC (612158);Dilated Cardiomyopathy, Dominant ;Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158) 27532257;25224718;26312134 False 3 50;25;25 1.97 False ENSG00000077522 ENSG00000077522 HGNC:164 BAG3 gene BAG3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1HH False 3 67;33;0 1.97 False ENSG00000151929 ENSG00000151929 HGNC:939 CSRP3 gene CSRP3 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1M ;Cardiomyopathy, hypertrophic, 12 (612124);?Cardiomyopathy, dilated, 1M (607482) 27532257;18505755 False 3 0;50;50 1.97 False ENSG00000129170 ENSG00000129170 HGNC:2472 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Scapuloperoneal syndrome, neurogenic, Kaeser type (181400);Cardiomyopathy, dilated, 1I, ;Cardiomyopathy, dilated, 1I, (604765);Myopathy, myofibrillar, 1 (601419) 27532257;20186049 False 3 50;25;25 1.97 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy 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;Dilated Cardiomyopathy, X-Linked False 3 67;33;0 1.97 False ENSG00000198947 ENSG00000198947 HGNC:2928 DSP gene DSP Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders 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) False 3 67;33;0 1.97 False ENSG00000096696 ENSG00000096696 HGNC:3052 EPG5 gene EPG5 Expert Review;Expert Review Green;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840; IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 23222957;25331754;26917586;26395118;23838600;23674064;28624465 False 3 0;0;100 1.97 False ENSG00000152223 ENSG00000152223 HGNC:29331 HAMP gene HAMP Expert Review;Expert Review Green;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313 False 3 67;0;33 1.97 False ENSG00000105697 ENSG00000105697 HGNC:15598 HFE gene HFE Expert list;Expert Review Green;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Hemochromatosis 235200" False 3 50;0;50 1.97 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review;Expert Review Green;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390 False 3 67;0;33 1.97 False ENSG00000168509 ENSG00000168509 HGNC:4887 IDH2 gene IDH2 Expert Review;Expert Review Green;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "D-2-hydroxyglutaric aciduria 2 613657" 20847235;24049096 False 3 33;0;67 1.97 False ENSG00000182054 ENSG00000182054 HGNC:5383 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Emery-Dreifuss muscular dystrophy 2, autosomal dominant (181350);Lipodystrophy, familial partial, type 2 (151660);Malouf syndrome (212112);Mandibuloacral dysplasia (248370);Cardiomyopathy, dilated, 1A (115200);Muscular dystrophy, congenital (613205);Hutchinson-Gilford progeria (176670);Heart-hand syndrome, Slovenian type (610140);Cardiomyopathy, dilated, 1A;Charcot-Marie-Tooth disease, type 2B1 (605588);Restrictive dermopathy, lethal (275210);Emery-Dreifuss muscular dystrophy 3, autosomal recessive (616516) 27532257;20186049 False 3 75;25;0 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM;Cardiomyopathy, dilated, 1MM (615396) 27532257;20186049 False 3 50;25;25 1.97 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1EE (613252);Atrial septal defect 3 (614089);{Sick sinus syndrome 3} (614090);Cardiomyopathy, hypertrophic, 14 (613251);Cardiomyopathy, dilated, 1EE 15998695;27532257 False 3 20;20;60 1.97 False ENSG00000197616 ENSG00000197616 HGNC:7576 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1S, OMIM:613426;Dilated cardiomyopathy 1S, MONDO:0013262 27532257;20186049 False 3 75;25;0 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1CC, OMIM:613122 27532257;19881492 False 3 50;25;25 1.97 False ENSG00000162614 ENSG00000162614 HGNC:29557 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P ;Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 27532257;20186049 False 3 75;25;0 1.97 False ENSG00000198523 ENSG00000198523 HGNC:9080 PPP1R13L gene PPP1R13L Expert Review Green;Literature;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519;cardio-cutaneous syndrome;sudden cardiac death 28069640;25691752;19016676;28864777;15661756 False 3 33;0;67 1.97 False ENSG00000104881 ENSG00000104881 HGNC:18838 PRDM16 gene PRDM16 Expert Review Green;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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 33;67;0 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD;Cardiomyopathy, dilated, 1DD (613172) 27532257;20186049 False 3 75;25;0 1.97 False ENSG00000203867 ENSG00000203867 HGNC:27424 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1E 27532257;20186049 False 3 75;25;0 1.97 False ENSG00000183873 ENSG00000183873 HGNC:10593 SGCD gene SGCD 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;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1L ;Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287);Cardiomyopathy, dilated, 1L (606685) 27532257;20186049;19259135 False 3 25;50;25 1.97 False ENSG00000170624 ENSG00000170624 HGNC:10807 SLC40A1 gene SLC40A1 Expert Review;Expert Review Green;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4 606069 False 3 67;0;33 1.97 False ENSG00000138449 ENSG00000138449 HGNC:10909 SPEG gene SPEG Expert Review Green;Literature Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021;Centronuclear myopathy 5, OMIM:615959 32925938;33794647;33926407 False 3 100;0;0 1.97 False ENSG00000072195 ENSG00000072195 HGNC:16901 TAZ gene TAZ Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dilated Cardiomyopathy, X-Linked False 3 50;50;0 1.97 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBX20 gene TBX20 Expert Review Green;London South GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders 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 50;50;0 1.97 False ENSG00000164532 ENSG00000164532 HGNC:11598 TCAP gene TCAP 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1N ;Cardiomyopathy, hypertrophic, 25 (607487);Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) 27532257;15582318;20186049 False 3 25;25;50 1.97 False ENSG00000173991 ENSG00000173991 HGNC:11610 TFR2 gene TFR2 Expert Review;Expert Review Green;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250 False 3 67;0;33 1.97 False ENSG00000106327 ENSG00000106327 HGNC:11762 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Z ;Cardiomyopathy, dilated, 1Z (611879);Cardiomyopathy, hypertrophic, 13 (613243) 27532257;20186049 False 3 50;25;25 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1FF (613286); Cardiomyopathy, dilated, 1FF ;Cardiomyopathy, dilated, 2A,;Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, hypertrophic, 7 (613690);?Cardiomyopathy, dilated, 2A (611880) 27532257;20186049 False 3 75;25;0 1.97 False ENSG00000129991 ENSG00000129991 HGNC:11947 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Left ventricular noncompaction 6 (601494);Cardiomyopathy, dilated, 1D (601494);Cardiomyopathy, dilated, 1D 27532257;20186049 False 3 75;25;0 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 9 ( 611878);Cardiomyopathy, hypertrophic, 3 (115196);Cardiomyopathy, dilated, 1Y;Cardiomyopathy, dilated, 1Y (611878) 27532257;20186049 False 3 75;25;0 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tibial muscular dystrophy, tardive (600334);Muscular dystrophy, limb-girdle, autosomal recessive 10 (608807);Cardiomyopathy, dilated, 1G ;Cardiomyopathy, familial hypertrophic, 9 (613765);Salih myopathy (611705);Myopathy, proximal, with early respiratory muscle involvement (603689);Cardiomyopathy, dilated, 1G (604145) 27532257;20186049 False 3 75;25;0 1.97 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 Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, hypertrophic, 15 (613255);Cardiomyopathy, dilated, 1W 27532257;20186049 False 3 75;25;0 1.97 False ENSG00000035403 ENSG00000035403 HGNC:12665