Multiple Tumours
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Familial Paraganglioma-Pheochromocytoma Syndrome
- Paraganglioma
- Pheochromocytoma
- Renal cell cancer
- Multiple endocrine tumours
- Neuro-endocrine Tumours- PCC and PGL
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- Complete
- Panels with this gene
-
- Inherited renal cancer
- Inherited predisposition to GIST
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Possible mitochondrial disorder - nuclear genes
- Multiple endocrine tumours
- Childhood solid tumours
- Mitochondrial disorders
- Inherited non-medullary thyroid cancer
- Likely inborn error of metabolism
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SDHB was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)SDHB was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SDHB was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)