Possible mitochondrial disorder - nuclear genes
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
Carl Fratter (Oxford University Hospitals NHS Trust)
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human mitochondrial disease; complex II subunitCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
- none found
Ellen McDonagh (Genomics England Curator)
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:45 p.m.
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- No OMIM phenotype
- OMIM
- 602413
- Clinvar variants
- Variants in SDHC
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Likely inborn error of metabolism
- Adult solid tumours for rare disease
- Mitochondrial disorders
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Possible mitochondrial disorder - nuclear genes
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
29 Mar 2019, Gel status: 2
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: sdhc has been classified as Amber List (Moderate Evidence).
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SDHC was added gene: SDHC was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHC was set to Unknown Phenotypes for gene: SDHC were set to No OMIM phenotype