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 ACTA1 gene ACTA1 Literature;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy; Hypertrophic cardiomyopathy 23650303; doi:10. 1007/ s12265-016-9673-5 False 1 100;0;0 1.97 False ENSG00000143632 ENSG00000143632 HGNC:129 ALMS1 gene ALMS1 Expert Review Red;Literature Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy 20301444 False 1 100;0;0 1.97 False ENSG00000116127 ENSG00000116127 HGNC:428 CAVIN4 gene CAVIN4 Literature;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders Unknown Dilated cardiomyopathy 21642240; doi:10. 1007/ s12265-016-9673-5 False 1 0;100;0 1.97 False ENSG00000170681 ENSG00000170681 HGNC:33742 CTF1 gene CTF1 Expert list;Illumina TruGenome Clinical Sequencing Services;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.97 False ENSG00000150281 ENSG00000150281 HGNC:2499 DMPK gene DMPK Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders Other Myotonic dystrophy 1, OMIM:160900 False 1 0;50;50 1.97 False ENSG00000104936 ENSG00000104936 HGNC:2933 DNAJC19 gene DNAJC19 Expert list;Expert Review Red;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal dilated cardiomyopathy with ataxia syndrome 16055927;22797137;27604308;27928778;27426421 False 1 0;50;50 1.97 False ENSG00000205981 ENSG00000205981 HGNC:30528 DOLK gene DOLK Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal syndromic DCM False 1 50;50;0 1.97 False ENSG00000175283 ENSG00000175283 HGNC:23406 DSC2 gene DSC2 Expert list;London South GLH;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;67;33 1.97 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1BB, False 1 0;67;33 1.97 False ENSG00000046604 ENSG00000046604 HGNC:3049 EMD gene EMD Emory Genetics Laboratory;Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 50;0;50 1.97 False ENSG00000102119 ENSG00000102119 HGNC:3331 EYA4 gene EYA4 Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cardiomyopathy, dilated, 1J, OMIM:605362 27532257;15735644 False 1 0;33;67 1.97 False ENSG00000112319 ENSG00000112319 HGNC:3522 FHL1 gene FHL1 Oxford Medical Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 1.97 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHL2 gene FHL2 Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders False 1 0;0;100 1.97 False ENSG00000115641 ENSG00000115641 HGNC:3703 GLA gene GLA Oxford Medical Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;100 1.97 False ENSG00000102393 ENSG00000102393 HGNC:4296 ILK gene ILK Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;50;50 1.97 False ENSG00000166333 ENSG00000166333 HGNC:6040 JUP gene JUP Expert list;London South GLH;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Naxos disease, OMIM:601214;Arrhythmogenic right ventricular dysplasia 12, OMIM:611528 False 1 0;67;33 1.97 False ENSG00000173801 ENSG00000173801 HGNC:6207 LAMA4 gene LAMA4 Emory Genetics Laboratory;Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;100;0 1.97 False ENSG00000112769 ENSG00000112769 HGNC:6484 LAMP2 gene LAMP2 Emory Genetics Laboratory;Expert Review Red;London South GLH;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 33;67;0 1.97 False ENSG00000005893 ENSG00000005893 HGNC:6501 MPO gene MPO Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;50;50 1.97 False ENSG00000005381 ENSG00000005381 HGNC:7218 MYL2 gene MYL2 Oxford Medical Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 50;0;50 1.97 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 Oxford Medical Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.97 False ENSG00000160808 ENSG00000160808 HGNC:7584 NEBL gene NEBL Emory Genetics Laboratory;Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;50;50 1.97 False ENSG00000078114 ENSG00000078114 HGNC:16932 NKX2-5 gene NKX2-5 Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 False 1 50;50;0 1.97 False ENSG00000183072 ENSG00000183072 HGNC:2488 NPPA gene NPPA Literature;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy 23275345; doi:10. 1007/ s12265-016-9673-5 False 1 0;100;0 1.97 False ENSG00000175206 ENSG00000175206 HGNC:7939 PDLIM3 gene PDLIM3 Emory Genetics Laboratory;Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders False 1 0;100;0 1.97 False ENSG00000154553 ENSG00000154553 HGNC:20767 PKP2 gene PKP2 Expert Review Red;London South GLH;Oxford Medical Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;67;33 1.97 False ENSG00000057294 ENSG00000057294 HGNC:9024 PRKAG2 gene PRKAG2 Oxford Medical Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.97 False ENSG00000106617 ENSG00000106617 HGNC:9386 RAB3GAP2 gene RAB3GAP2 Expert Review;Expert Review Red;South West GLH;Wessex and West Midlands GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720;Warburg micro syndrome 2, OMIM:614225 16532399 False 1 25;0;75 1.97 False ENSG00000118873 ENSG00000118873 HGNC:17168 RAF1 gene RAF1 South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;100;0 1.97 False ENSG00000132155 ENSG00000132155 HGNC:9829 RYR2 gene RYR2 South West GLH;UKGTN Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy 17875969;25163546;32748945 False 1 0;0;100 1.97 False ENSG00000198626 ENSG00000198626 HGNC:10484 SDHA gene SDHA Expert list;Radboud University Medical Center, Nijmegen;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, dilated, 1GG False 1 0;50;50 1.97 False ENSG00000073578 ENSG00000073578 HGNC:10680 SGCB gene SGCB Literature;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy 23349452; doi:10. 1007/ s12265-016-9673-5 False 1 0;0;100 1.97 False ENSG00000163069 ENSG00000163069 HGNC:10806 SYNE1 gene SYNE1 Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;50;50 1.97 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNE2 gene SYNE2 Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted syndromic DCM False 1 0;50;50 1.97 False ENSG00000054654 ENSG00000054654 HGNC:17084 TMEM43 gene TMEM43 Oxford Medical Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;100 1.97 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMPO gene TMPO Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;North West GLH;South West GLH;UKGTN Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated Cardiomyopathy, Dominant ;Dilated Cardiomyopathy, Dominant 16247757;27532257;20186049 False 1 0;33;67 1.97 False ENSG00000120802 ENSG00000120802 HGNC:11875 TTR gene TTR Emory Genetics Laboratory;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;50;50 1.97 False ENSG00000118271 ENSG00000118271 HGNC:12405 TXNRD2 gene TXNRD2 Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;50;50 1.97 False ENSG00000184470 ENSG00000184470 HGNC:18155 XK gene XK Expert list;South West GLH Dilated Cardiomyopathy and conduction defects Cardiomyopathy Cardiovascular disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females syndromic DCM False 1 0;100;0 1.97 False ENSG00000047597 ENSG00000047597 HGNC:12811