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 AKAP9 gene AKAP9 Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-11 (611820);?Long QT syndrome-11 611820;Long QT syndrome-11 25087618;19862833;16301704;30420954 False 1 0;50;50 0.13 False ENSG00000127914 ENSG00000127914 HGNC:379 ALMS1 gene ALMS1 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000116127 ENSG00000116127 HGNC:428 CALR3 gene CALR3 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Cardiomyopathy, familial hypertrophic, 19 False 1 0;100;0 0.13 False ENSG00000269058 ENSG00000269058 HGNC:20407 CAV3 gene CAV3 Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic,;Brugada/Brugada like syndrome;Long QT syndrome-9 False 1 0;100;0 0.13 False ENSG00000182533 ENSG00000182533 HGNC:1529 DTNA gene DTNA Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Left ventricular noncompaction 1, with or without congenital heart defects, False 1 0;100;0 0.13 False ENSG00000134769 ENSG00000134769 HGNC:3057 EMD gene EMD Expert Review Red;London South GLH Sudden cardiac death - previous panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 False 1 0;100;0 0.13 False ENSG00000102119 ENSG00000102119 HGNC:3331 GJA5 gene GJA5 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000143140 ENSG00000265107 HGNC:4279 GPD1L gene GPD1L Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 2;Brugada syndrome 2 (611777) 19666841;27761167;16301704;19862833;30420954 False 1 0;50;50 0.13 False ENSG00000152642 ENSG00000152642 HGNC:28956 ILK gene ILK Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000166333 ENSG00000166333 HGNC:6040 KCNA5 gene KCNA5 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000130037 ENSG00000130037 HGNC:6224 KCND3 gene KCND3 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown sudden unexplained death;arrhythmia;Brugada/Brugada like syndrome;sudden cardiac arrest 22457051 False 1 0;100;0 0.13 False ENSG00000171385 ENSG00000171385 HGNC:6239 KLF10 gene KLF10 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Hypertrophic cardiomyopathy False 1 0;100;0 0.13 False ENSG00000155090 ENSG00000155090 HGNC:11810 LAMA4 gene LAMA4 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000112769 ENSG00000112769 HGNC:6484 MIB1 gene MIB1 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Left ventricular noncompaction 7 False 1 0;100;0 0.13 False ENSG00000101752 ENSG00000101752 HGNC:21086 MYOZ2 gene MYOZ2 Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardiomyopathy, familial hypertrophic, 16, False 1 0;100;0 0.13 False ENSG00000172399 ENSG00000172399 HGNC:1330 NKX2-5 gene NKX2-5 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Atrialseptaldefect7,withorwithoutAVconductiondefects,108900 False 1 0;100;0 0.13 False ENSG00000183072 ENSG00000183072 HGNC:2488 NPPA gene NPPA Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Dilated cardiomyopathy 26888179;23275345 False 1 0;100;0 0.13 False ENSG00000175206 ENSG00000175206 HGNC:7939 PDLIM3 gene PDLIM3 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000154553 ENSG00000154553 HGNC:20767 PRDM16 gene PRDM16 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Left ventricular noncompaction 8;Cardiomyopathy, dilated, 1LL False 1 0;100;0 0.13 False ENSG00000142611 ENSG00000142611 HGNC:14000 RANGRF gene RANGRF Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Brugada/Brugada like syndrome False 1 0;100;0 0.13 False ENSG00000108961 ENSG00000108961 HGNC:17679 SCN3B gene SCN3B Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 7 27761167;16301704;23257389;19862833;30420954 False 1 0;50;50 0.13 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4B gene SCN4B Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT syndrome-10 17592081;19862833;16301704;30420954 False 1 0;50;50 0.13 False Other ENSG00000177098 ENSG00000177098 HGNC:10592 SGCB gene SGCB Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown Dilated cardiomyopathy 26888179;23349452 False 1 0;100;0 0.13 False ENSG00000163069 ENSG00000163069 HGNC:10806 SGCG gene SGCG London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000102683 ENSG00000102683 HGNC:10809 TBX20 gene TBX20 London South GLH Sudden cardiac death - previous panel False 1 0;100;0 0.13 False ENSG00000164532 ENSG00000164532 HGNC:11598 TGFB3 gene TGFB3 Expert Review Red;London South GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Arrhythmogenic right ventricular dysplasia 1 False 1 0;100;0 0.13 False ENSG00000119699 ENSG00000119699 HGNC:11769 TMPO gene TMPO Expert Review Red;London South GLH;North West GLH Sudden cardiac death - previous panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dilated Cardiomyopathy, Dominant 16247757 False 1 0;50;50 0.13 False ENSG00000120802 ENSG00000120802 HGNC:11875 TXNRD2 gene TXNRD2 Expert Review Red;London South GLH Sudden cardiac death - previous panel Unknown False 1 0;100;0 0.13 False ENSG00000184470 ENSG00000184470 HGNC:18155