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
-
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Likely inborn error of metabolism
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Genodermatoses with malignancies
- Childhood onset dystonia, chorea or related movement disorder
- Childhood solid tumours
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Mitochondrial disorders
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- White matter disorders and cerebral calcification - narrow panel
- 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)