SDHB

succinate dehydrogenase complex iron sulfur subunit B
OMIM: 185470
PanelMode of inheritanceDetails
6 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma
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
Mitochondrial Diseases, Gastrointestinal stromal tumor, 606764, Pheochromocytoma, 171300, Paragangliomas 4, 115310, Isolated complex II deficiency, Cowden syndrome 2, 612359, Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits), Paraganglioma and gastric stromal sarcoma, 606864
R-numbers: R223
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paraganglioma and Gastric Stromal Sarcoma, Paragangliomas 4, 115310Pheochromocytoma, 171300Paraganglioma and gastric stromal sarcoma, 606864Cowden syndrome 2, 612359Gastrointestinal stromal tumor, 606764
R-numbers: R363
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
R-numbers: R224
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cowden syndrome 2, Gastrointestinal stromal tumor, Paraganglioma and gastric stromal sarcoma, Paragangliomas 4, Pheochromocytoma.
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Succinate dehydrogenase-deficient leukoencephalopathy, complex II deficiency, Mitochondrial Leukoencephalopathy