Multiple endocrine tumours
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
4 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: All reviewers agree this should be promoted from red to the green list. Is on the COSMIC cancer consenus gene list.Created: 1 Feb 2016, 12:57 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Paragangliomas 4, OMIM:115310
- Pheochromocytoma, OMIM:171300
- Paraganglioma and gastric stromal sarcoma, OMIM:606864
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Inherited white matter disorders
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Renal cancer pertinent cancer susceptibility
- Sarcoma susceptibility
- Childhood solid tumours
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SDHB were changed from Endocrine Cancer; familial paraganglioma to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SDHB were set to Endocrine Cancer; familial paraganglioma
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SDHB was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)SDHB was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory