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 ACADVL gene ACADVL Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 6.2 False ENSG00000072778 ENSG00000072778 HGNC:92 ACTA1 gene ACTA1 Literature;South West GLH Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Dilated cardiomyopathy 16945537; doi:10. 1007/ s12265-016-9673-5 False 1 0;100;0 6.2 False ENSG00000143632 ENSG00000143632 HGNC:129 AGL gene AGL Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 6.2 False ENSG00000162688 ENSG00000162688 HGNC:321 ANKRD1 gene ANKRD1 Expert list;London South GLH;South West GLH;UKGTN Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal False 1 0;33;67 6.2 False ENSG00000148677 ENSG00000148677 HGNC:15819 ATP5E gene ATP5E Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown syndromic HCM False 1 0;50;50 6.2 False ENSG00000124172 ENSG00000124172 HGNC:838 BRAF gene BRAF Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 6.2 False ENSG00000157764 ENSG00000157764 HGNC:1097 CALR3 gene CALR3 Expert list;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown Cardiomyopathy, familial hypertrophic, 19 False 1 0;50;50 6.2 False ENSG00000269058 ENSG00000269058 HGNC:20407 CASQ2 gene CASQ2 Literature;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Left ventricular non-compaction; Catecholaminergic polymorphic ventricular tachycardia False 1 0;0;100 6.2 False ENSG00000118729 ENSG00000118729 HGNC:1513 CAV3 gene CAV3 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, False 1 0;33;67 6.2 False ENSG00000182533 ENSG00000182533 HGNC:1529 COA5 gene COA5 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 6.2 False ENSG00000183513 ENSG00000183513 HGNC:33848 CRYAB gene CRYAB Expert list;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar, 2, OMIM:608810 False 1 0;33;67 6.2 False ENSG00000109846 ENSG00000109846 HGNC:2389 DES gene DES Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;100;0 6.2 False ENSG00000175084 ENSG00000175084 HGNC:2770 FOXRED1 gene FOXRED1 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown syndromic HCM False 1 0;50;50 6.2 False ENSG00000110074 ENSG00000110074 HGNC:26927 FXN gene FXN Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 0;50;50 6.2 False Other - please provide details in the comments ENSG00000165060 ENSG00000165060 HGNC:3951 GAA gene GAA Expert list;London South GLH;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;67;33 6.2 False ENSG00000171298 ENSG00000171298 HGNC:4065 GLB1 gene GLB1 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 6.2 False ENSG00000170266 ENSG00000170266 HGNC:4298 GUSB gene GUSB Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 6.2 False ENSG00000169919 ENSG00000169919 HGNC:4696 HRAS gene HRAS Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 6.2 False ENSG00000174775 ENSG00000174775 HGNC:5173 KCNQ1 gene KCNQ1 Literature;South West GLH Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic cardiomyopathy; Long QT syndrome; Short QT syndrome False 1 0;0;100 6.2 False ENSG00000053918 ENSG00000053918 HGNC:6294 KLF10 gene KLF10 Literature;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown Hypertrophic cardiomyopathy False 1 0;0;100 6.2 False ENSG00000155090 ENSG00000155090 HGNC:11810 LDB3 gene LDB3 Expert list;London South GLH;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;67;33 6.2 False ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA Expert list;Illumina TruGenome Clinical Sequencing Services;South West GLH Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic False 1 0;0;100 6.2 False ENSG00000160789 ENSG00000160789 HGNC:6636 LZTR1 gene LZTR1 Expert Review Red;Literature Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal RASopathy-associated cardiomyopathy 30368668;30732632 False 1 25;0;75 6.2 False ENSG00000099949 ENSG00000099949 HGNC:6742 MAP2K1 gene MAP2K1 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown syndromic HCM False 1 0;50;50 6.2 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown syndromic HCM False 1 0;50;50 6.2 False ENSG00000126934 ENSG00000126934 HGNC:6842 MRPL3 gene MRPL3 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 6.2 False ENSG00000114686 ENSG00000114686 HGNC:10379 MYH6 gene MYH6 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;Wessex and West Midlands GLH Hypertrophic cardiomyopathy Cardiology 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, familial hypertrophic, 14 27532257;22194935;30531895;28082330 False 1 0;20;80 6.2 True ENSG00000197616 ENSG00000197616 HGNC:7576 MYO6 gene MYO6 Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy False 1 0;50;50 6.2 False ENSG00000196586 ENSG00000196586 HGNC:7605 MYOM1 gene MYOM1 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown False 1 0;100;0 6.2 False ENSG00000101605 ENSG00000101605 HGNC:7613 MYOZ2 gene MYOZ2 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 16, False 1 0;33;67 6.2 False ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN Emory Genetics Laboratory;Expert list;Expert Review Red;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 1 0;75;25 6.2 False ENSG00000138347 ENSG00000138347 HGNC:23246 NEXN gene NEXN Expert list;Expert Review Red;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, 20, OMIM:613876 27532257;20970104 False 1 0;33;67 6.2 False ENSG00000162614 ENSG00000162614 HGNC:29557 NRAS gene NRAS Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 6.2 False ENSG00000213281 ENSG00000213281 HGNC:7989 PDLIM3 gene PDLIM3 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown False 1 0;50;50 6.2 False ENSG00000154553 ENSG00000154553 HGNC:20767 PTPN11 gene PTPN11 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 6.2 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 6.2 False ENSG00000132155 ENSG00000132155 HGNC:9829 SCO2 gene SCO2 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;50;50 6.2 False ENSG00000130489 ENSG00000130489 HGNC:10604 SHOC2 gene SHOC2 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 6.2 False ENSG00000108061 ENSG00000108061 HGNC:15454 SLC25A3 gene SLC25A3 Expert list;Expert Review Red;South West GLH Hypertrophic cardiomyopathy Cardiology Unknown Mitochondrial phosphate carrier deficiency, 610773 False 1 0;33;67 6.2 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A4 gene SLC25A4 Literature;North West GLH;South West GLH Hypertrophic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418);Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283);Hypertrophic cardiomyopathy 25732997;27532257 False 1 0;0;100 6.2 False ENSG00000151729 ENSG00000151729 HGNC:10990 SOS1 gene SOS1 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic HCM False 1 0;50;50 6.2 False ENSG00000115904 ENSG00000115904 HGNC:11187 TBX1 gene TBX1 Expert Review Red;Literature Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertrophic cardiomyopathy, HP:0001639 41130538 False 1 0;50;50 6.2 False ENSG00000184058 ENSG00000184058 HGNC:11592 TCAP gene TCAP Expert list;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 25 (607487);Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) 15582318;27532257 False 1 0;25;75 6.2 False ENSG00000173991 ENSG00000173991 HGNC:11610 TMEM70 gene TMEM70 Expert list;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal syndromic HCM False 1 0;100;0 6.2 False ENSG00000175606 ENSG00000175606 HGNC:26050 TSFM gene TSFM Expert list;Expert Review Red;South West GLH Hypertrophic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 610505 False 1 0;33;67 6.2 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTN gene TTN Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 9, http://www.ncbi.nlm.nih.gov/pubmed/22335739 False 1 0;0;100 6.2 False ENSG00000155657 ENSG00000155657 HGNC:12403 VCL gene VCL Expert list;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH Hypertrophic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1W (611407);Cardiomyopathy, familial hypertrophic, 15, ;Cardiomyopathy, hypertrophic, 15 (613255) 27532257;28369730 False 1 0;0;100 6.2 False ENSG00000035403 ENSG00000035403 HGNC:12665