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 SDHA gene SDHA Expert Review Green;NHS GMS Mitochondrial disorder with complex II deficiency BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Cardiomyopathy, dilated, 1GG, OMIM:613642 10976639;27683074;33471299 False 3 100;0;0 2.10 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;NHS GMS Mitochondrial disorder with complex II deficiency BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 19465911;22995659;26642834 False 3 100;0;0 2.10 True ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green;NHS GMS Mitochondrial disorder with complex II deficiency BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 22972948;26925370;27604842;32124427 False 3 80;20;0 2.10 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green;NHS GMS Mitochondrial disorder with complex II deficiency BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain complex II deficiency, 252011 24367056;26008905 False 3 100;0;0 2.10 True ENSG00000204370 ENSG00000204370 HGNC:10683 SDHAF2 gene SDHAF2 Expert Review Amber;NHS GMS Mitochondrial disorder with complex II deficiency Unknown No OMIM phenotype False 2 50;25;25 2.10 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Amber;NHS GMS Mitochondrial disorder with complex II deficiency Unknown No OMIM phenotype False 2 67;33;0 2.10 True ENSG00000143252 ENSG00000143252 HGNC:10682 SDHAF3 gene SDHAF3 Expert Review Red;NHS GMS Mitochondrial disorder with complex II deficiency Unknown No OMIM phenotype False 1 50;50;0 2.10 True ENSG00000196636 ENSG00000196636 HGNC:21752 SDHAF4 gene SDHAF4 Expert Review Red;NHS GMS Mitochondrial disorder with complex II deficiency Unknown No OMIM phenotype False 1 50;50;0 2.10 True ENSG00000154079 ENSG00000154079 HGNC:20957