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 Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1R, MIM# 613424 Dilated cardiomyopathy;HP:0001644 31430208;30384889;9563954;14605248;20600154;26432839 False 3 100;0;0 1.37 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158 Dilated cardiomyopathy;HP:0001644 20474083;25224718;22253474;14567970: False 3 50;50;0 1.37 True ENSG00000077522 ENSG00000077522 HGNC:164 ALPK3 gene ALPK3 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, MIM# 618052 Dilated cardiomyopathy;HP:0001644 26846950;27106955;32480058 False 3 100;0;0 1.37 True ENSG00000136383 ENSG00000136383 HGNC:17574 BAG3 gene BAG3 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1HH, MIM# 613881;MONDO:0013479 Dilated cardiomyopathy;HP:0001644 21353195;25008357;25448463;24623017;27391596;28211974;30442290;31983221;28737513;29323723;33947203 False 3 100;0;0 1.37 True ENSG00000151929 ENSG00000151929 HGNC:939 BAG5 gene BAG5 Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, dilated, 2F, MIM# 619747" Dilated cardiomyopathy;HP:0001644 35044787 False 3 100;0;0 1.37 True ENSG00000166170 ENSG00000166170 HGNC:941 C10orf71 gene C10orf71 Expert Review Green;Other Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dilated cardiomyopathy MONDO:0005021 Dilated cardiomyopathy;HP:0001644 38950288 False 3 100;0;0 1.37 True ENSG00000177354 ENSG00000177354 HGNC:26973 CAP2 gene CAP2 Expert list;Expert Review Green Dilated Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2I (MIM#620462) Dilated cardiomyopathy;HP:0001644 PMID: 30518548;33083013;34862840 False 3 100;0;0 1.37 True ENSG00000112186 ENSG00000112186 HGNC:20039 DES gene DES Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1I, MIM# 604765;MONDO:0011482 Dilated cardiomyopathy;HP:0001644 10430757;11728149;17325244;23300193;31514951;26724190;23349452;25557463;33947203 False 3 100;0;0 1.37 True ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD Expert Review Green;Victorian Clinical Genetics Services Dilated 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 (MIM#302045) Dilated cardiomyopathy;HP:0001644 26066469 False 3 100;0;0 1.37 True ENSG00000198947 ENSG00000198947 HGNC:2928 DSP gene DSP Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy 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 Dilated cardiomyopathy;HP:0001644 31983221;24108106 False 3 100;0;0 1.37 True ENSG00000096696 ENSG00000096696 HGNC:3052 FKRP gene FKRP Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 Dilated cardiomyopathy;HP:0001644 PMID: 32914449 False 3 100;0;0 1.37 True ENSG00000181027 ENSG00000181027 HGNC:17997 FLNC gene FLNC Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated cardiomyopathy Dilated cardiomyopathy;HP:0001644 30067491;28008423;31245841;28436997;32112656;33947203 False 3 100;0;0 1.37 True ENSG00000128591 ENSG00000128591 HGNC:3756 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy 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 Dilated cardiomyopathy;HP:0001644 25228319;27165304 False 3 100;0;0 1.37 True ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1A, MIM# 115200 Dilated cardiomyopathy;HP:0001644 33947203 False 3 100;0;0 1.37 True ENSG00000160789 ENSG00000160789 HGNC:6636 MYH7 gene MYH7 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1S, MIM# 613426;MONDO:0013262 Dilated cardiomyopathy;HP:0001644 21483645;30874888;21846512;30384889;25935763;24558114;27000522;31179125;24119082;27965028;33947203 False 3 100;0;0 1.37 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYZAP gene MYZAP Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, dilated, 2K, MIM# 620894" Dilated cardiomyopathy;HP:0001644 34899865;35840178;38436102;20093627 False 3 100;0;0 1.37 True ENSG00000263155 ENSG00000263155 HGNC:43444 NEXN gene NEXN Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1CC, MIM# 613122 Dilated cardiomyopathy;HP:0001644 19881492;28416588;25163546;27532257;24503780;29540472;26659360 False 3 100;0;0 1.37 True ENSG00000162614 ENSG00000162614 HGNC:29557 NKX2-5 gene NKX2-5 Expert list;Expert Review Green Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy Dilated cardiomyopathy;HP:0001644 39018455;37326999;25503402;23661673;27855642;30354339 False 3 50;0;50 1.37 True ENSG00000183072 ENSG00000183072 HGNC:2488 PKP2 gene PKP2 Expert Review Green;Literature Dilated Cardiomyopathy 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 Dilated cardiomyopathy;HP:0001644 15489853;16567567;30562116;35059364;38050058 False 3 50;50;0 1.37 True ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1P, MIM# 609909 Dilated cardiomyopathy;HP:0001644 33947203 False 3 100;0;0 1.37 True ENSG00000198523 ENSG00000198523 HGNC:9080 PRDM16 gene PRDM16 Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1LL MIM#615373;Left ventricular noncompaction 8 MIM#615373 Dilated cardiomyopathy;HP:0001644 PMID: 23768516;24387995;31965688;29367541;29447731;30847666;33082984;32183154;33500567;34540771;34350506;34935411 False 3 50;50;0 1.37 True ENSG00000142611 ENSG00000142611 HGNC:14000 RBM20 gene RBM20 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD 613172 AD Dilated cardiomyopathy;HP:0001644 30871351;33947203 False 3 100;0;0 1.37 True ENSG00000203867 ENSG00000203867 HGNC:27424 SCN5A gene SCN5A Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1E, MIM# 601154 Dilated cardiomyopathy;HP:0001644 15671429;15671429;19808398;21596231;20458009;22675453;22766342;22999724;29871609;29506689;31514951;31930659;31520233;17512504;21824921;30218094 False 3 100;0;0 1.37 True ENSG00000183873 ENSG00000183873 HGNC:10593 TBX20 gene TBX20 Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, MONDO:0005021, TBX20-related Dilated cardiomyopathy;HP:0001644 26118961;17668378;27510170;35282022 False 3 50;50;0 1.37 True ENSG00000164532 ENSG00000164532 HGNC:11598 TBX5 gene TBX5 Expert Review Green;Literature Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Holt-Oram syndrome, MIM# 142900;Dilated cardiomyopathy" Dilated cardiomyopathy;HP:0001644 32449309;32236096;25963046;25725155 False 3 100;0;0 1.37 True ENSG00000089225 ENSG00000089225 HGNC:11604 TNNC1 gene TNNC1 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Z, MIM# 611879;MONDO:0012745 Dilated cardiomyopathy;HP:0001644 33947203;31983221;17977476;19808376 False 3 100;0;0 1.37 True ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1FF, MIM#613286 Dilated cardiomyopathy;HP:0001644 15607392;22464770;31568572;19590045;20215591;21846512;2226790 False 3 100;0;0 1.37 True Other ENSG00000129991 ENSG00000129991 HGNC:11947 TNNI3K gene TNNI3K Expert list;Expert Review Green Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117" Dilated cardiomyopathy;HP:0001644 30010057;29355681 False 3 100;0;0 1.37 True ENSG00000116783 ENSG00000116783 HGNC:19661 TNNT2 gene TNNT2 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1D, MIM# 601494 Dilated cardiomyopathy;HP:0001644 33947203;11106718;20978592;20031601;15542288;17556660 False 3 100;0;0 1.37 True ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y, MIM# 611878 Dilated cardiomyopathy;HP:0001644 11273725;23147248;20117437;15249230;20215591;21483645;31983221;28600229 False 3 100;0;0 1.37 True ENSG00000140416 ENSG00000140416 HGNC:12010 TTN gene TTN Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1G, MIM#604145 Dilated cardiomyopathy;HP:0001644 22335739;25589632;28045975;33947203 False 3 100;0;0 1.37 True ENSG00000155657 ENSG00000155657 HGNC:12403 VCL gene VCL Expert Review Green;Victorian Clinical Genetics Services Dilated Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W, MIM# 611407 Dilated cardiomyopathy;HP:0001644 31983221;32516855;26406308;26458567;24062880;11815424;17785437 False 3 100;0;0 1.37 True ENSG00000035403 ENSG00000035403 HGNC:12665