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 ANKRD1 gene ANKRD1 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 30681346 False 1 0;0;100 2.5 True ENSG00000148677 ENSG00000148677 HGNC:15819 ANKRD1 gene ANKRD1 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 19608030;19525294 False 1 0;0;100 2.5 True ENSG00000148677 ENSG00000148677 HGNC:15819 BMP10 gene BMP10 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy MONDO:0005021 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 36673052 False 1 0;0;100 2.5 True ENSG00000163217 ENSG00000163217 HGNC:20869 BVES gene BVES Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 26642364;31119192 False 1 0;100;0 2.5 True ENSG00000112276 ENSG00000112276 HGNC:1152 C1QBP gene C1QBP Expert Review Red;Expert list Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM#617713 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 28942965 False 1 100;0;0 2.5 True ENSG00000108561 ENSG00000108561 HGNC:1243 CALR3 gene CALR3 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 29988065 False 1 0;0;100 2.5 True ENSG00000269058 ENSG00000269058 HGNC:20407 CAV3 gene CAV3 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, familial hypertrophic, MIM# 192600" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 14672715;27483260;12138167 False 1 0;0;100 2.5 True ENSG00000182533 ENSG00000182533 HGNC:1529 CDH2 gene CDH2 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 28280076;15662031 False 1 0;0;100 2.5 True ENSG00000170558 ENSG00000170558 HGNC:1759 CHRM2 gene CHRM2 Expert Review Red;Expert Review Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 23743182;18451336 False 1 0;0;100 2.5 True ENSG00000181072 ENSG00000181072 HGNC:1951 CORIN gene CORIN Expert Review Red;Expert list Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 37913506;15637153 False 1 0;0;100 2.5 True ENSG00000145244 ENSG00000145244 HGNC:19012 CRYAB gene CRYAB Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1II, MIM#615184 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 16793013;16483541;23590293;29253866 False 1 0;0;100 2.5 True ENSG00000109846 ENSG00000109846 HGNC:2389 CSRP3 gene CSRP3 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1M MIM#607482 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 12507422;14567970;19412328 False 1 0;0;100 2.5 True ENSG00000129170 ENSG00000129170 HGNC:2472 DNAJB4 gene DNAJB4 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, MONDO:0005336, DNAJB4-related Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 PMID: 36264506 False 1 0;0;100 2.5 True ENSG00000162616 ENSG00000162616 HGNC:14886 DSC2 gene DSC2 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 21859740 False 1 0;100;0 2.5 True ENSG00000134755 ENSG00000134755 HGNC:3036 FXN gene FXN Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia MIM#229300 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 False 1 0;0;100 2.5 True ENSG00000165060 ENSG00000165060 HGNC:3951 GAA gene GAA Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, MIM#232300 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 27142047 False 1 0;0;100 2.5 True ENSG00000171298 ENSG00000171298 HGNC:4065 ILK gene ILK Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 17646580;27886618;25163546 False 1 0;100;0 2.5 True ENSG00000166333 ENSG00000166333 HGNC:6040 KLF10 gene KLF10 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted HCM Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 PMID: 22234868 False 1 0;0;100 2.5 True ENSG00000155090 ENSG00000155090 HGNC:11810 LAMA4 gene LAMA4 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1JJ (MIM#615235) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 17646580;26406308;27532257 False 1 0;0;100 2.5 True ENSG00000112769 ENSG00000112769 HGNC:6484 MYBPC3 gene MYBPC3 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1MM, MIM#615396 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 False 1 0;50;50 2.5 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 30681346 False 1 0;0;100 2.5 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYLK2 gene MYLK2 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders Other Cardiomyopathy, hypertrophic, 1, digenic, 192600 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 11733062;24082139;25825456;20301725;30681346 False 1 0;0;100 2.5 True Other ENSG00000101306 ENSG00000101306 HGNC:16243 MYOM1 gene MYOM1 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 27600940;26656175;21256114 False 1 0;50;50 2.5 True ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 16 MIM#613838 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 17347475;18591919;28296734;30681346;22987565 False 1 0;0;100 2.5 True ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cardiomyopathy, hypertrophic, 22 (MIM# 615248)" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 30681346;20801532;22286171 False 1 0;0;100 2.5 True ENSG00000138347 ENSG00000138347 HGNC:23246 NEXN gene NEXN Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 20, MIM# 613876 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 20970104;30681346 False 1 0;0;100 2.5 True ENSG00000162614 ENSG00000162614 HGNC:29557 OBSCN gene OBSCN Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 30681346;26573135;17716621;25173926;28630914;33438037 False 1 0;0;100 2.5 True ENSG00000154358 ENSG00000154358 HGNC:15719 PDLIM3 gene PDLIM3 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 30681346;26455666;20801532 False 1 0;0;100 2.5 True ENSG00000154553 ENSG00000154553 HGNC:20767 PPCS gene PPCS Expert Review Red;Expert list Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, dilated, 2C, MIM# 618189" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 29754768 False 1 0;100;0 2.5 True ENSG00000127125 ENSG00000127125 HGNC:25686 RYR2 gene RYR2 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 30681346;26573135;22515980;26656175;30835254 False 1 0;100;0 2.5 True ENSG00000198626 ENSG00000198626 HGNC:10484 RYR2 gene RYR2 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2, MIM# 600996 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 11159936;25041964;29543670 False 1 0;0;100 2.5 True ENSG00000198626 ENSG00000198626 HGNC:10484 SLC25A4 gene SLC25A4 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 16155110 False 1 0;0;100 2.5 True ENSG00000151729 ENSG00000151729 HGNC:10990 SOD2 gene SOD2 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Lethal neonatal dilated cardiomyopathy Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 31494578 False 1 0;0;100 2.5 True ENSG00000112096 ENSG00000112096 HGNC:11180 TAZ gene TAZ Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome (MIM# 302060) Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 False 1 0;0;100 2.5 True ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954);Cardiomyopathy, hypertrophic, 25 (MIM# 607487)" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 31303467;15582318;24037902 False 1 0;100;0 2.5 True ENSG00000173991 ENSG00000173991 HGNC:11610 TCAP gene TCAP Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 25, MIM# 607487" Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 16352453;15582318;30681346 False 1 0;0;100 2.5 True ENSG00000173991 ENSG00000173991 HGNC:11610 TGFB3 gene TGFB3 Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 1, MIM# 107970 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 15639475 False 1 0;0;100 2.5 True ENSG00000119699 ENSG00000119699 HGNC:11769 UQCRFS1 gene UQCRFS1 Expert Review Red;Literature Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Complex III deficiency;lactic acidosis;fetal bradycardia;hypertrophic cardiomyopathy;alopecia totalis Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 31883641 False 1 100;0;0 2.5 True ENSG00000169021 ENSG00000169021 HGNC:12587 VCL gene VCL Expert Review Red;Victorian Clinical Genetics Services Cardiomyopathy_Adult_SuperPanel Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 15, MIM# 613255 Cardiomyopathy;HP:0001638; Abnormality of the myocardium;HP:0001637 17097056;30681346 False 1 0;0;100 2.5 True ENSG00000035403 ENSG00000035403 HGNC:12665