Mitochondrial disorders
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
1 review
Shamima Rahman (UCL Institute of Child Health)
Details
- Sources
-
- Expert list
- Expert
- Emory Genetics Laboratory
- Phenotypes
-
- Mitochondrial Diseases
- Isolated complex II deficiency
- OMIM
- 602413
- Clinvar variants
- Variants in SDHC
- Penetrance
- Complete
- 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
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHC was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list