Multiple endocrine tumours
Gene: SDHC
SDHC (succinate dehydrogenase complex subunit C)
EnsemblGeneIds (GRCh38): ENSG00000143252
EnsemblGeneIds (GRCh37): ENSG00000143252
OMIM: 602413, Gene2Phenotype
SDHC is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000143252
EnsemblGeneIds (GRCh37): ENSG00000143252
OMIM: 602413, Gene2Phenotype
SDHC is in 16 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 Thomas (Genomics England Curator)
Comment on list classification: Current diagnostic plus 3 expert reviews supporting inclusion.Created: 2 Feb 2016, 2:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Endocrine Cancer
- OMIM
- 602413
- Clinvar variants
- Variants in SDHC
- Penetrance
- Complete
- Panels with this gene
-
- Neuroendocrine cancer pertinent cancer susceptibility
- Inherited renal cancer
- Inherited predisposition to GIST
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex II deficiency
- Likely inborn error of metabolism
- Inherited phaeochromocytoma and paraganglioma
- Sarcoma cancer susceptibility
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
History Filter Activity
2 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Feb 2016, Gel status: 4
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SDHC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
2 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Aug 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)SDHC was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory