Inherited non-medullary thyroid cancer
Gene: SDHBEnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Non-medullary thyroid cancer in two cases of Cowden syndrome 2 612359 in the absence of PTEN variantsCreated: 26 Jun 2017, 3 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cowden syndrome 2 612359
- OMIM
- 185470
- Clinvar variants
- Variants in SDHB
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited phaeochromocytoma and paraganglioma
- Adult solid tumours cancer susceptibility
- Mitochondrial disorder with complex II deficiency
- Sarcoma cancer susceptibility
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Possible mitochondrial disorder - nuclear genes
- Genodermatoses with malignancies
- Adult solid tumours for rare disease
- Renal cancer pertinent cancer susceptibility
- Mitochondrial disorders
- Sarcoma susceptibility
- Inherited predisposition to GIST
- Multiple endocrine tumours
- Childhood solid tumours
- Inherited non-medullary thyroid cancer
- Neuroendocrine cancer pertinent cancer susceptibility
- Inherited renal cancer
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SDHB were set to Cowden syndrome 2 612359
Set publications
Sarah Leigh (Genomics England Curator)Publications for SDHB were set to 18678321
Added New Source
Emma Woodward (Manchester Centre for Genomic Medicine)SDHB was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature
Created
Emma Woodward (Manchester Centre for Genomic Medicine)SDHB was created by Emma Woodward