Inherited non-medullary thyroid cancer
Gene: SDHDEnsemblGeneIds (GRCh38): ENSG00000204370
EnsemblGeneIds (GRCh37): ENSG00000204370
OMIM: 602690, Gene2Phenotype
SDHD is in 24 panels
1 review
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. One variant reported in two unrealated cases with Cowden syndrome 3 and papillary thyroid cancer (PMID 18678321)Created: 7 Aug 2017, 1:47 p.m.
Mode of inheritance
Unknown
Phenotypes
Cowden syndrome 3 615106
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Literature
- Phenotypes
-
- Cowden syndrome 3 615106
- OMIM
- 602690
- Clinvar variants
- Variants in SDHD
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Childhood solid tumours
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Inherited non-medullary thyroid cancer
- Fetal anomalies
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Mitochondrial disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Inherited white matter disorders
- Genodermatoses with malignancies
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
Created
Sarah Leigh (Genomics England Curator)SDHD was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)SDHD was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature