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
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Paragangliomas 5, 614165, Cardiomyopathy, dilated, 1GG, 613642, Mitochondrial Respiratory Chain Complex II Deficiency, Leigh syndrome, 256000, Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial respiratory chain complex II deficiency, 252011, Isolated complex II deficiency, Cardiomyopathy, dilated, 1GG
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEIGH SYNDROME 256000
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000, Paragangliomas 5, 614165, Cardiomyopathy, dilated, 1GG, 613642, Isolated complex II deficiency, Mitochondrial respiratory chain complex II deficiency, 252011, Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial Respiratory Chain Complex II Deficiency
R-numbers: R223
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary Paraganglioma-Pheochromocytoma Syndrome, Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165
R-numbers: R363
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome, 256000Mitochondrial respiratory chain complex II deficiency, 252011Cardiomyopathy, dilated, 1GG, 613642Paragangliomas 5, 614165, LEIGH SYNDROME (NUCLEAR DNA MUTATION)
R-numbers: R354
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011, Leigh syndrome, 256000
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex II deficiency, Leigh syndrome, 256000, Mitochondrial respiratory chain complex II deficiency, 252011, Cardiomyopathy, dilated, 1GG, 613642, Paragangliomas 5, 614165, Mitochondrial Respiratory Chain Complex II Deficiency
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011, Leigh syndrome, 256000