SDHA

succinate dehydrogenase complex flavoprotein subunit A
OMIM: 600857
PanelMode of inheritanceDetails
10 panels
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME 256000
R-numbers: R223
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paragangliomas 5, OMIM:614165
R-numbers: R363
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165, LEIGH SYNDROME (NUCLEAR DNA MUTATION)
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 5.0
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
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
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
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
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, OMIM:252011