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 list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;South West GLH;UKGTN Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 11 ;Atrial septal defect 5 (612794);Left ventricular noncompaction 4 (613424);Cardiomyopathy, hypertrophic, 11 (612098);Cardiomyopathy, dilated, 1R (613424);Hypertrophic Cardiomyopathy 27532257;28369730;30681346 False 3 83;17;0 5.29 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;South West GLH;UKGTN;Wessex and West Midlands GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1AA, with or without LVNC 612158;Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158 25224718;25173926;20022194;27287556 False 3 14;86;0 5.29 False ENSG00000077522 ENSG00000077522 HGNC:164 ALPK3 gene ALPK3 Expert list;Expert Review Green;NHS GMS Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic 27, OMIM:618052 26846950;27106955;32480058;28630369;30046096;31074094;21441111;34263907;35583889 False 3 100;0;0 5.29 False ENSG00000136383 ENSG00000136383 HGNC:17574 CACNA1C gene CACNA1C Expert Review Green;Literature;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertrophic cardiomyopathy;Timothy syndrome, OMIM:601005;Timothy syndrome, MONDO:0010979;Long QT syndrome 8, OMIM:618447;long qt syndrome 8, MONDO:0032756;Brugada syndrome 3, OMIM:611875;Brugada syndrome 3, MONDO:0012742;CACNA1C-related disorder 24183960;doi:10. 1007/ s12265-016-9673-5;26253506 False 3 25;50;25 5.29 False ENSG00000151067 ENSG00000151067 HGNC:1390 CSRP3 gene CSRP3 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 12 (612124);?Cardiomyopathy, dilated, 1M (607482);Cardiomyopathy, familial hypertrophic, 12 27532257;28369730;30681346 False 3 71;14;14 5.29 True ENSG00000129170 ENSG00000129170 HGNC:2472 FHL1 gene FHL1 Expert list;Expert Review Green;London South GLH;North West GLH;South West GLH;UKGTN Hypertrophic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, biallelic mutations in females Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718);Myopathy, X-linked, with postural muscle atrophy (300696);?Uruguay faciocardiomusculoskeletal syndrome (300280);Scapuloperoneal myopathy, X-linked dominant (300695);Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717);Emery-Dreifuss muscular dystrophy 6, X-linked (300696) 27532257;28369730;30681346;20186852;22523091;29926425 False 3 83;17;0 5.29 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHOD3 gene FHOD3 Expert Review Green;NHS GMS Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, MONDO:0005045 23255317;29907873;31742804;32335906;30442288 False 3 50;50;0 5.29 False ENSG00000134775 ENSG00000134775 HGNC:26178 FLNC gene FLNC Expert Review Green;Oxford Medical Genetics Laboratory;South West GLH;Wessex and West Midlands GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 26, OMIM:617047;Cardiomyopathy, familial restrictive 5, OMIM:617047;Hypertrophic cardiomyopathy 26, MONDO:0014883 25351925;28356264;30411535;30681346 False 3 60;40;0 5.29 True ENSG00000128591 ENSG00000128591 HGNC:3756 GLA gene GLA Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;South West GLH;UKGTN Hypertrophic cardiomyopathy Cardiology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease (301500);syndromic HCM;Fabry disease, cardiac variant (301500) 27532257;28369730;29649853;27225851 False 3 83;17;0 5.29 False ENSG00000102393 ENSG00000102393 HGNC:4296 KLHL24 gene KLHL24 Expert Review Green;Literature;NHS GMS Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236;cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 30715372;32870709;36672924 False 3 100;0;0 5.29 False ENSG00000114796 ENSG00000114796 HGNC:25947 LAMP2 gene LAMP2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;South West GLH;UKGTN Hypertrophic 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);syndromic HCM 27532257;28369730;26835038 False 3 83;17;0 5.29 False ENSG00000005893 ENSG00000005893 HGNC:6501 MYBPC3 gene MYBPC3 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 Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 4, ;Cardiomyopathy, hypertrophic, 4 (115197);Left ventricular noncompaction 10 (615396);Cardiomyopathy, dilated, 1MM (615396) 27532257;28369730;30681346 False 3 83;17;0 5.29 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH7 gene MYH7 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 1, OMIM:192600;Hypertrophic cardiomyopathy 1, MONDO:0008647 27532257;28369730;30681346;27532257 False 3 83;17;0 5.29 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424;Cardiomyopathy, hypertrophic, 10, OMIM:608758 23365102;27532257;28369730;30681346;31127036;32453731;33731536 False 3 86;14;0 5.29 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 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 Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 8,;Cardiomyopathy, familial hypertrophic, 8 (608751) 27532257;28369730;30681346 False 3 83;17;0 5.29 False ENSG00000160808 ENSG00000160808 HGNC:7584 PLN gene PLN 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 18, ;Cardiomyopathy, dilated, 1P (609909);Cardiomyopathy, hypertrophic, 18 (613874) 27532257;28369730;22820313;30681346 False 3 83;17;0 5.29 False ENSG00000198523 ENSG00000198523 HGNC:9080 PRKAG2 gene PRKAG2 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wolff-Parkinson-White syndrome (194200);syndromic HCM;Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome;Cardiomyopathy, familial hypertrophic 6,;Cardiomyopathy, familial hypertrophic 6 (600858);Glycogen storage disease of heart, lethal congenital (261740) 27532257;28369730;26835038;15673802 False 3 83;17;0 5.29 False ENSG00000106617 ENSG00000106617 HGNC:9386 TBX20 gene TBX20 Expert Review Green;NHS GMS Hypertrophic 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 5.29 False ENSG00000164532 ENSG00000164532 HGNC:11598 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 13, ;Cardiomyopathy, dilated, 1Z (611879);Cardiomyopathy, hypertrophic, 13 (613243) 27532257;28369730;30681346 False 3 67;33;0 5.29 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 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 Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 7 ;?Cardiomyopathy, dilated, 2A (611880);Cardiomyopathy, dilated, 1FF (613286);Cardiomyopathy, familial restrictive, 1 (115210);Cardiomyopathy, hypertrophic, 7 (613690) 27532257;28369730;30681346 False 3 83;17;0 5.29 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial restrictive, 3 (612422);Cardiomyopathy, hypertrophic, 2 (115195);Cardiomyopathy, dilated, 1D (601494);Cardiomyopathy, familial hypertrophic, 2 ;Left ventricular noncompaction 6 (601494) 27532257;28369730;30681346 False 3 83;17;0 5.29 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 Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 9 ( 611878);Cardiomyopathy, hypertrophic, 3 (115196);Cardiomyopathy, familial hypertrophic, 3;Cardiomyopathy, dilated, 1Y (611878) 27532257;28369730;30681346 False 3 83;17;0 5.29 False ENSG00000140416 ENSG00000140416 HGNC:12010 TRIM63 gene TRIM63 Expert Review Green;Literature;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, familial hypertrophic, 31, OMIM:621270;cardiomyopathy, familial hypertrophic, 31, MONDO:0979573 32451364;22821932 False 3 50;50;0 5.29 False ENSG00000158022 ENSG00000158022 HGNC:16007 TTR gene TTR Emory Genetics Laboratory;Expert list;Expert Review Green;London South GLH;South West GLH;Wessex and West Midlands GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac amyloidosis;Amyloidosis, hereditary, transthyretin-related, 105210 28475415;16115295;16194874;26537620;1626570;1570831;30878017;31131842;31118583;31111153;30120737 False 3 60;40;0 5.29 False ENSG00000118271 ENSG00000118271 HGNC:12405 ATAD3A gene ATAD3A Expert Review Amber;Literature Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183 27640307;28652416;28158749;31727539 False 2 0;100;0 5.29 False ENSG00000197785 ENSG00000197785 HGNC:25567 GYG1 gene GYG1 Expert Review Amber;Literature Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV, OMIM:613507;hypertrophic cardiomyopathy, MONDO:0005045 27718144;20357282;31628455 False 2 0;100;0 5.29 False ENSG00000163754 ENSG00000163754 HGNC:4699 JPH2 gene JPH2 Emory Genetics Laboratory;Expert list;Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 17, OMIM:613873 28393127;17509612;17476457;30681346;23973696;26869393;28393127;30235249 False 2 22;78;0 5.29 False ENSG00000149596 ENSG00000149596 HGNC:14202 MT-TI gene MT-TI Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hypertrophic cardiomyopathy Cardiology MITOCHONDRIAL familial hypertrophic cardiomyopathy, MONDO:0024573;familial dilated cardiomyopathy, MONDO:0016333 12767666;21945886;23332932;29481798;30025578;39639347 False 2 40;60;0 5.29 True ENSG00000210100 ENSG00000210100 HGNC:7488 MYLK2 gene MYLK2 Expert list;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 1, digenic (192600);Cardiomyopathy, hypertrophic, midventricular, digenic, 27532257;28369730;30681346 False 2 0;100;0 5.29 False ENSG00000101306 ENSG00000101306 HGNC:16243 MYPN gene MYPN Emory Genetics Laboratory;Expert list;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomypathy, familial hypertrophic, 22, False 2 0;75;25 5.29 False ENSG00000138347 ENSG00000138347 HGNC:23246 RPS6KB1 gene RPS6KB1 Expert Review Amber;Literature Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy 34916228 False 2 100;0;0 5.29 False ENSG00000108443 ENSG00000108443 HGNC:10436 SVIL gene SVIL Expert Review Amber;Literature Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypertrophic cardiomyopathy, MONDO:0005045 39966646;32779703;25633252 False 2 0;100;0 5.29 False ENSG00000197321 ENSG00000197321 HGNC:11480 TULP3 gene TULP3 Expert list;Expert Review Amber Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, OMIM:619902 35397207;36460032 False 2 50;0;50 5.29 False ENSG00000078246 ENSG00000078246 HGNC:12425