Adult solid tumours for rare disease
Gene: SDHAF2
SDHAF2 (succinate dehydrogenase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 12 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Paraganglioma and Pheochromocytoma
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Familial Paraganglioma and Pheochromocytoma
- OMIM
- 613019
- Clinvar variants
- Variants in SDHAF2
- Penetrance
- None
- Panels with this gene
-
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Neuroendocrine cancer pertinent cancer susceptibility
- Undiagnosed metabolic disorders
- Mitochondrial disorder with complex II deficiency
- Childhood onset dystonia, chorea or related movement disorder
- Adult solid tumours for rare disease
- Likely inborn error of metabolism
- Inherited phaeochromocytoma and paraganglioma
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
History Filter Activity
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF2 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)SDHAF2 was created by Ellen McDonagh