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 ANK2 gene ANK2 Expert Review Amber;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.13 False ENSG00000145362 ENSG00000145362 HGNC:493 ANKRD1 gene ANKRD1 Expert Review Amber;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.13 False ENSG00000148677 ENSG00000148677 HGNC:15819 CRYAB gene CRYAB Expert Review Amber;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, dilated, 1II, OMIM:615184;Myopathy, myofibrillar, 2, OMIM:608810 False 2 0;100;0 3.13 False ENSG00000109846 ENSG00000109846 HGNC:2389 CSRP3 gene CSRP3 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Cardiomyopathy, dilated, 1M (607482);Cardiomyopathy, dilated, 1M;Cardiomyopathy, hypertrophic, 12 (612124) 18505755;27532257 False 2 0;67;33 3.13 False ENSG00000129170 ENSG00000129170 HGNC:2472 FKRP gene FKRP Expert Review Amber;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, OMIM:607155 15833432;18060779;19705481;32914449 False 2 67;33;0 3.13 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;London South GLH;Radboud University Medical Center, Nijmegen;South West GLH;Wessex and West Midlands GLH Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated Cardiomyopathy, Recessive;Cardiomyopathy, dilated, 1X 17878207, 18177472, 18752264 , 19266496, 27065010 False 2 0;67;33 3.13 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLII gene FLII Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 32870709 False 2 50;50;0 3.13 False ENSG00000177731 ENSG00000177731 HGNC:3750 GATA6 gene GATA6 Expert Review Amber;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.13 False ENSG00000141448 ENSG00000141448 HGNC:4174 LDB3 gene LDB3 Expert Review Amber;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 2 0;100;0 3.13 False ENSG00000122367 ENSG00000122367 HGNC:15710 MYH6 gene MYH6 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic, 14 (613251);Cardiomyopathy, dilated, 1EE (613252);{Sick sinus syndrome 3} (614090);Atrial septal defect 3 (614089);Cardiomyopathy, dilated, 1EE 15998695;27532257 False 2 20;20;60 3.13 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYLK3 gene MYLK3 Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 29235529;31244672;32213617;32870709;30690923 False 2 67;33;0 3.13 False ENSG00000140795 ENSG00000140795 HGNC:29826 MYPN gene MYPN Expert Review Amber;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 2 0;100;0 3.13 False ENSG00000138347 ENSG00000138347 HGNC:23246 MYZAP gene MYZAP Expert Review Amber;Other Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021;Cardiomyopathy, dilated, 2K, OMIM:620894 34899865;35840178;38436102;20093627;24698889 False 2 0;0;100 3.13 False Other ENSG00000263155 ENSG00000263155 HGNC:43444 NRAP gene NRAP Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021 30384889;33534821;28611399;https://doi.org/10.1101/2020.10.12.20211474;32870709 False 2 67;33;0 3.13 False ENSG00000197893 ENSG00000197893 HGNC:7988 RHBDF1 gene RHBDF1 Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal 32870709 False 2 0;100;0 3.13 False ENSG00000007384 ENSG00000007384 HGNC:20561 RPL3L gene RPL3L Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2D, OMIM:619371 32514796;32870709;36291431;35323613;37308880;39803500;40820268 False 2 67;33;0 3.13 False ENSG00000140986 ENSG00000140986 HGNC:10351 RRAGC gene RRAGC Expert Review Amber;Literature;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dilated cardiomyopathy, hepatopathy and brain abnormalities 27234373;37057673 False 2 100;0;0 3.13 False ENSG00000116954 ENSG00000116954 HGNC:19902 RRAGD gene RRAGD Expert Review Amber;Literature;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypomagnesaemia;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 34607910 False 2 50;50;0 3.13 False Other ENSG00000025039 ENSG00000025039 HGNC:19903 SGCD gene SGCD Emory Genetics Laboratory;Expert list;Expert Review Amber;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 and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 6 (601287);Cardiomyopathy, dilated, 1L;Cardiomyopathy, dilated, 1L (606685) 19259135;20186049;27532257 False 2 20;60;20 3.13 False ENSG00000170624 ENSG00000170624 HGNC:10807 SLC6A6 gene SLC6A6 Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Early retinal degeneration;cardiomyopathy 31345061;31903486;29886034;17875433;20804595 False 2 0;100;0 3.13 False ENSG00000131389 ENSG00000131389 HGNC:11052 SPEG gene SPEG Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Dilated cardiomyopathy, MONDO:0005021;Centronuclear myopathy 5, OMIM:615959 32925938;33794647;33926407 False 2 50;50;0 3.13 False ENSG00000072195 ENSG00000072195 HGNC:16901 TAB2 gene TAB2 Expert Review Amber;London South GLH;NHS GMS Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital heart defects, nonsyndromic, 2, OMIM:614980 28464518;29700987;32183715;34456334;34990405;34741306;36000780;37153890 False 2 33;33;33 3.13 False ENSG00000055208 ENSG00000055208 HGNC:17075 TAX1BP3 gene TAX1BP3 Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic cardiomyopathy 39963794 False 2 0;100;0 3.13 False ENSG00000213977 ENSG00000213977 HGNC:30684 TBX5 gene TBX5 Expert Review Amber;Literature Dilated and arrhythmogenic cardiomyopathy Cardiology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, OMIM:142900;Dilated cardiomyopathy 32449309;32236096;25963046;25725155 False 2 50;50;0 3.13 False ENSG00000089225 ENSG00000089225 HGNC:11604 TCAP gene TCAP Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;London South GLH;North West GLH;Radboud University Medical Center, Nijmegen;South West GLH;UKGTN Dilated and arrhythmogenic cardiomyopathy Cardiology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 25 (607487);Cardiomyopathy, dilated, 1N;Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) 15582318;20186049;27532257 False 2 20;40;40 3.13 False ENSG00000173991 ENSG00000173991 HGNC:11610