Inherited non-medullary thyroid cancer
Gene: SDHB
SDHB (succinate dehydrogenase complex iron sulfur subunit B)
EnsemblGeneIds (GRCh38): ENSG00000117118
EnsemblGeneIds (GRCh37): ENSG00000117118
OMIM: 185470, Gene2Phenotype
SDHB is in 22 panels
EnsemblGeneIds (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
-
- 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
7 Aug 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
26 Jun 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
26 Jun 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
26 Jun 2017, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SDHB were set to Cowden syndrome 2 612359
26 Jun 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for SDHB were set to 18678321
13 Jun 2017, Gel status: 0
Added New Source
Emma Woodward (Manchester Centre for Genomic Medicine)SDHB was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature
13 Jun 2017, Gel status: 0
Created
Emma Woodward (Manchester Centre for Genomic Medicine)SDHB was created by Emma Woodward