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 Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 11 612098" Hypertrophic cardiomyopathy;HP:0001639 False 3 100;0;0 1.0 True ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158" Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 50;50;0 1.0 True ENSG00000077522 ENSG00000077522 HGNC:164 ALPK3 gene ALPK3 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Cardiomyopathy, familial hypertrophic 27, MIM# 618052" Hypertrophic cardiomyopathy;HP:0001639 26846950;27106955;32480058;34263907;35783621 False 3 100;0;0 1.0 True ENSG00000136383 ENSG00000136383 HGNC:17574 CACNA1C gene CACNA1C Expert list;Expert Review Green Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related Hypertrophic cardiomyopathy;HP:0001639 26253506;28490369;28866666;39132495 False 3 0;100;0 1.0 True ENSG00000151067 ENSG00000151067 HGNC:1390 CSRP3 gene CSRP3 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 12, MIM# 612124" Hypertrophic cardiomyopathy;HP:0001639 18505755;30681346 False 3 100;0;0 1.0 True ENSG00000129170 ENSG00000129170 HGNC:2472 DES gene DES Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Desminopathy Hypertrophic cardiomyopathy;HP:0001639 39132495 False 3 0;0;100 1.0 True ENSG00000175084 ENSG00000175084 HGNC:2770 FHL1 gene FHL1 Expert list;Expert Review Green Hypertrophic cardiomyopathy_HCM Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696" Hypertrophic cardiomyopathy;HP:0001639 False 3 100;0;0 1.0 True ENSG00000022267 ENSG00000022267 HGNC:3702 FHOD3 gene FHOD3 Expert Review Green;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Hypertrophic cardiomyopathy;HP:0001639 32335906;31742804;30442288;33586461 False 3 100;0;0 1.0 True ENSG00000134775 ENSG00000134775 HGNC:26178 FLNC gene FLNC Expert Review;Expert Review Green Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 26 Hypertrophic cardiomyopathy;HP:0001639 31924696;28356264;30411535 False 3 100;0;0 1.0 True ENSG00000128591 ENSG00000128591 HGNC:3756 GLA gene GLA Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM 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) Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 50;0;50 1.0 True ENSG00000102393 ENSG00000102393 HGNC:4296 KLHL24 gene KLHL24 Expert Review Green;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal "Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236" Hypertrophic cardiomyopathy;HP:0001639 27798626;27889062;30715372 False 3 100;0;0 1.0 True ENSG00000114796 ENSG00000114796 HGNC:25947 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM 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) Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 50;0;50 1.0 True ENSG00000005893 ENSG00000005893 HGNC:6501 MT-TI gene MT-TI Expert Review Green;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MITOCHONDRIAL Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 12767666;30025578;29481798 False 3 0;100;0 1.0 True ENSG00000210100 ENSG00000210100 HGNC:7488 MYBPC3 gene MYBPC3 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM 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 Hypertrophic cardiomyopathy;HP:0001639 20378854;30681346 False 3 100;0;0 1.0 True ENSG00000134571 ENSG00000134571 HGNC:7551 MYH7 gene MYH7 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 1, MIM# 192600" Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 100;0;0 1.0 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 10, MIM# 608758" Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 100;0;0 1.0 True ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 8, MIM# 608751" Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 100;0;0 1.0 True ENSG00000160808 ENSG00000160808 HGNC:7584 PLN gene PLN Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Cardiomyopathy, hypertrophic, 18 (MIM #613874)" Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 0;100;0 1.0 True ENSG00000198523 ENSG00000198523 HGNC:9080 PRKAG2 gene PRKAG2 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, MIM# 600858 Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 50;0;50 1.0 True ENSG00000106617 ENSG00000106617 HGNC:9386 PTPN11 gene PTPN11 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 1 MIM# 163950 Hypertrophic cardiomyopathy;HP:0001639 39132495 False 3 0;0;100 1.0 True ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1NN MIM#615916;Noonan syndrome 5 MIM#611553 Hypertrophic cardiomyopathy;HP:0001639 24777450;39132495 False 3 0;0;100 1.0 True ENSG00000132155 ENSG00000132155 HGNC:9829 RIT1 gene RIT1 ClinGen;Expert Review Green Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome MONDO:0018997 Hypertrophic cardiomyopathy;HP:0001639 39132495 False 3 100;0;0 1.0 True Other ENSG00000143622 ENSG00000143622 HGNC:10023 TNNC1 gene TNNC1 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 13 (MIM# 613243) Hypertrophic cardiomyopathy;HP:0001639 30681346;11385718;8572189;21262074;22815480;26779504 False 3 0;100;0 1.0 True ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Cardiomyopathy, hypertrophic, 7, MIM# 613690" Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 100;0;0 1.0 True ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Cardiomyopathy, hypertrophic, 2, MIM# 115195" Hypertrophic cardiomyopathy;HP:0001639 30681346 False 3 100;0;0 1.0 True ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1Y, 611878;Cardiomyopathy, hypertrophic, 3, 115196;Left ventricular noncompaction 9, 611878 Hypertrophic cardiomyopathy;HP:0001639 31270709;30681346 False 3 100;0;0 1.0 True Other ENSG00000140416 ENSG00000140416 HGNC:12010 TRIM63 gene TRIM63 Expert Review Green;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy, MONDO:0005045 Hypertrophic cardiomyopathy;HP:0001639 30681346;32451364 False 3 100;0;0 1.0 True ENSG00000158022 ENSG00000158022 HGNC:16007 TTR gene TTR Expert Review Green;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related MIM#105210 Hypertrophic cardiomyopathy;HP:0001639 28475415;31554435 False 3 0;100;0 1.0 True ENSG00000118271 ENSG00000118271 HGNC:12405 GYG1 gene GYG1 Expert Review;Expert Review Amber Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 27718144;20357282;31628455 False 2 0;100;0 1.0 True ENSG00000163754 ENSG00000163754 HGNC:4699 JPH2 gene JPH2 Expert Review Amber;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, MIM#613873 Hypertrophic cardiomyopathy;HP:0001639 30681346;17509612;23973696;26869393;28393127;30235249 False 2 0;100;0 1.0 True ENSG00000149596 ENSG00000149596 HGNC:14202 NEBL gene NEBL Expert Review Amber;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;dilated cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 27186169 False 2 100;0;0 1.0 True ENSG00000078114 ENSG00000078114 HGNC:16932 RPS6KB1 gene RPS6KB1 Expert Review Amber;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related Hypertrophic cardiomyopathy;HP:0001639 34916228 False 2 100;0;0 1.0 True ENSG00000108443 ENSG00000108443 HGNC:10436 TTN gene TTN Expert Review Amber;Victorian Clinical Genetics Services Hypertrophic cardiomyopathy_HCM Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy Hypertrophic cardiomyopathy;HP:0001639 27625337;31628103 False 2 0;100;0 1.0 True ENSG00000155657 ENSG00000155657 HGNC:12403 TULP3 gene TULP3 Expert Review Amber;Literature Hypertrophic cardiomyopathy_HCM Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, MIM# 619902 Hypertrophic cardiomyopathy;HP:0001639 PMID: 35397207 False 2 100;0;0 1.0 True ENSG00000078246 ENSG00000078246 HGNC:12425