Genomics England

SDHA

succinate dehydrogenase complex flavoprotein subunit A

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes gastrointestinal stromal tumors
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEIGH SYNDROME 256000
Green in Inherited phaeochromocytoma and paraganglioma excluding NF1 R-numbers: R223 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Paragangliomas 5, OMIM:614165
Green in Inherited predisposition to GIST R-numbers: R363 Signed-off version 1.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165, LEIGH SYNDROME (NUCLEAR DNA MUTATION)
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259, Cardiomyopathy, dilated, 1GG, OMIM:613642
Green in Mitochondrial disorder with complex II deficiency R-numbers: R354 Signed-off version 2.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259, Cardiomyopathy, dilated, 1GG, OMIM:613642
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259, Cardiomyopathy, dilated, 1GG, OMIM:613642
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011, Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259, Cardiomyopathy, dilated, 1GG, OMIM:613642
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial respiratory chain complex II deficiency, OMIM:252011