Inherited phaeochromocytoma and paraganglioma
Gene: SDHCEnsemblGeneIds (GRCh38): ENSG00000143252
EnsemblGeneIds (GRCh37): ENSG00000143252
OMIM: 602413, Gene2Phenotype
SDHC is in 16 panels
3 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Paragangliomas 3, 605373Paraganglioma and gastric stromal sarcoma, 606864Gastrointestinal stromal tumor, 606764
- Hereditary Paraganglioma-Pheochromocytoma Syndrome
- 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
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for SDHC was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)SDHC was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Eligibility statement prior genetic testing
Added New Source
Eik Haraldsdottir (Genomics England)SDHC was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Expert
Added New Source
GEL ()SDHC was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: UKGTN
Added New Source
GEL ()SDHC was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()SDHC was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()SDHC was added to Neuro-endocrine Tumours- PCC and PGLpanel. Sources: Radboud University Medical Center, Nijmegen