Multiple Tumours
Gene: SDHCEnsemblGeneIds (GRCh38): ENSG00000143252
EnsemblGeneIds (GRCh37): ENSG00000143252
OMIM: 602413, Gene2Phenotype
SDHC is in 16 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Familial Paraganglioma-Pheochromocytoma Syndrome
- Paraganglioma
- Pheochromocytoma
- Multiple endocrine tumours
- Neuro-endocrine Tumours- PCC and PGL
- 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
- 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
- Likely inborn error of metabolism
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
History Filter Activity
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SDHC was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)SDHC was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)SDHC was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)