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 ABCC9 gene ABCC9 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000069431 ENSG00000069431 HGNC:60 ACADVL gene ACADVL South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000072778 ENSG00000072778 HGNC:92 ACTA1 gene ACTA1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTC1 gene ACTC1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTN2 gene ACTN2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000077522 ENSG00000077522 HGNC:164 ALMS1 gene ALMS1 Expert Review Red;Literature Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy PMID: 2030;1444 False 1 100;0;0 0.14 False ENSG00000116127 ENSG00000116127 HGNC:428 ANKRD1 gene ANKRD1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000148677 ENSG00000148677 HGNC:15819 BAG3 gene BAG3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000151929 ENSG00000151929 HGNC:939 BRAF gene BRAF South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000157764 ENSG00000157764 HGNC:1097 CBL gene CBL South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000110395 ENSG00000110395 HGNC:1541 COA5 gene COA5 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000183513 ENSG00000183513 HGNC:33848 CPT2 gene CPT2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000157184 ENSG00000157184 HGNC:2330 CRYAB gene CRYAB South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000109846 ENSG00000109846 HGNC:2389 CSRP3 gene CSRP3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000129170 ENSG00000129170 HGNC:2472 CTF1 gene CTF1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000150281 ENSG00000150281 HGNC:2499 DES gene DES South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD South West GLH Paediatric or syndromic cardiomyopathy - previous panel 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;0 0.14 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNAJC19 gene DNAJC19 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000205981 ENSG00000205981 HGNC:30528 DOLK gene DOLK South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000175283 ENSG00000175283 HGNC:23406 DSC2 gene DSC2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000096696 ENSG00000096696 HGNC:3052 DTNA gene DTNA South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000134769 ENSG00000134769 HGNC:3057 EMD gene EMD South West GLH Paediatric or syndromic cardiomyopathy - previous panel 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;0 0.14 False ENSG00000102119 ENSG00000102119 HGNC:3331 EPG5 gene EPG5 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000152223 ENSG00000152223 HGNC:29331 EYA4 gene EYA4 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000112319 ENSG00000112319 HGNC:3522 FHL1 gene FHL1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel 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;0 0.14 False ENSG00000022267 ENSG00000022267 HGNC:3702 FKTN gene FKTN South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000106692 ENSG00000106692 HGNC:3622 GAA gene GAA South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000114480 ENSG00000114480 HGNC:4180 GLA gene GLA South West GLH Paediatric or syndromic cardiomyopathy - previous panel 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;0 0.14 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000170266 ENSG00000170266 HGNC:4298 GUSB gene GUSB South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000169919 ENSG00000169919 HGNC:4696 HRAS gene HRAS South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000174775 ENSG00000174775 HGNC:5173 IDH2 gene IDH2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000182054 ENSG00000182054 HGNC:5383 ILK gene ILK South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000166333 ENSG00000166333 HGNC:6040 JUP gene JUP South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000173801 ENSG00000173801 HGNC:6207 KRAS gene KRAS South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000133703 ENSG00000133703 HGNC:6407 LAMA4 gene LAMA4 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000112769 ENSG00000112769 HGNC:6484 LAMP2 gene LAMP2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel 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;0 0.14 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDB3 gene LDB3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000122367 ENSG00000122367 HGNC:15710 LMNA gene LMNA South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000160789 ENSG00000160789 HGNC:6636 MAP2K1 gene MAP2K1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000126934 ENSG00000126934 HGNC:6842 MIB1 gene MIB1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000101752 ENSG00000101752 HGNC:21086 MMACHC gene MMACHC South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000132763 ENSG00000132763 HGNC:24525 MUT gene MUT South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYBPC3 gene MYBPC3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYH6 gene MYH6 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH7 gene MYH7 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000092054 ENSG00000092054 HGNC:7577 MYL2 gene MYL2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYPN gene MYPN South West GLH Paediatric or syndromic cardiomyopathy - previous panel BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000138347 ENSG00000138347 HGNC:23246 NEBL gene NEBL South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000078114 ENSG00000078114 HGNC:16932 NEXN gene NEXN South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000162614 ENSG00000162614 HGNC:29557 NRAS gene NRAS South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000213281 ENSG00000213281 HGNC:7989 PCCA gene PCCA South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000114054 ENSG00000114054 HGNC:8654 PDLIM3 gene PDLIM3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000154553 ENSG00000154553 HGNC:20767 PKP2 gene PKP2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000057294 ENSG00000057294 HGNC:9024 PLN gene PLN South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000198523 ENSG00000198523 HGNC:9080 PNPLA2 gene PNPLA2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000177666 ENSG00000177666 HGNC:30802 PPP1R13L gene PPP1R13L South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000104881 ENSG00000104881 HGNC:18838 PRKAG2 gene PRKAG2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000106617 ENSG00000106617 HGNC:9386 PTPN11 gene PTPN11 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000179295 ENSG00000179295 HGNC:9644 RAF1 gene RAF1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000132155 ENSG00000132155 HGNC:9829 RBM20 gene RBM20 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000203867 ENSG00000203867 HGNC:27424 RIT1 gene RIT1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000143622 ENSG00000143622 HGNC:10023 RYR2 gene RYR2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000198626 ENSG00000198626 HGNC:10484 SCN5A gene SCN5A South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000183873 ENSG00000183873 HGNC:10593 SCO2 gene SCO2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000073578 ENSG00000073578 HGNC:10680 SGCD gene SGCD South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000170624 ENSG00000170624 HGNC:10807 SHOC2 gene SHOC2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000108061 ENSG00000108061 HGNC:15454 SLC22A5 gene SLC22A5 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A20 gene SLC25A20 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A4 gene SLC25A4 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000151729 ENSG00000151729 HGNC:10990 SOS1 gene SOS1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000115904 ENSG00000115904 HGNC:11187 STK4 gene STK4 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000101109 ENSG00000101109 HGNC:11408 TAZ gene TAZ South West GLH Paediatric or syndromic cardiomyopathy - previous panel 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;0 0.14 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCAP gene TCAP South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000173991 ENSG00000173991 HGNC:11610 TGFB3 gene TGFB3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000119699 ENSG00000119699 HGNC:11769 TMEM43 gene TMEM43 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000170876 ENSG00000170876 HGNC:28472 TMPO gene TMPO South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000120802 ENSG00000120802 HGNC:11875 TNNC1 gene TNNC1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 South West GLH Paediatric or syndromic cardiomyopathy - previous panel BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 0.14 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000140416 ENSG00000140416 HGNC:12010 TSFM gene TSFM South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTN gene TTN South West GLH Paediatric or syndromic cardiomyopathy - previous panel False 1 0;0;0 0.14 False ENSG00000155657 ENSG00000155657 HGNC:12403 TTR gene TTR South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related 105210 30878017;31131842;31118583;31111153;30120737 False 1 0;0;0 0.14 False ENSG00000118271 ENSG00000118271 HGNC:12405 VCL gene VCL South West GLH Paediatric or syndromic cardiomyopathy - previous panel MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted False 1 0;0;0 0.14 False ENSG00000035403 ENSG00000035403 HGNC:12665