SDHD

succinate dehydrogenase complex subunit D
OMIM: 602690
PanelMode of inheritanceDetails
8 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma
R-numbers: R135
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
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
Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Mitochondrial Diseases, Isolated complex II deficiency
R-numbers: R223
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Phenotypes
Hereditary Paraganglioma-Pheochromocytoma Syndrome, Paragangliomas 1, with or without deafness, 168000Pheochromocytoma, 171300Carcinoid tumors, intestinal, 114900Merkel cell carcinoma, somaticParaganglioma and gastric stromal sarcoma, 606864Cowden syndrome 3, 615106
R-numbers: R363
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R354
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency 252011
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial respiratory chain complex II deficiency, 252011