Mitochondrial disorder with complex II deficiency
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
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:39 a.m.
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, 10:31 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
- none found
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. Gene Symbol submitted: SDHC; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:31 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
- Childhood onset dystonia, chorea or related movement disorder
- Inherited phaeochromocytoma and paraganglioma
- Mitochondrial disorders
- Sarcoma cancer susceptibility
- Inherited predisposition to GIST
- Inherited renal cancer
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Sarcoma susceptibility
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
History Filter Activity
10 May 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).
25 Mar 2019, Gel status: 2
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: sdhc has been classified as Amber List (Moderate Evidence).
1 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 Mitochondrial disorder with complex II deficiency. 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