This Panel is marked as Internal
Tumour predisposition - adult onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Familial Paraganglioma and Pheochromocytoma
- OMIM
- 613019
- Clinvar variants
- Variants in SDHAF2
- Penetrance
- None
- Panels with this gene
-
- Mitochondrial disorder with complex II deficiency
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Mitochondrial disorders
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Possible mitochondrial disorder - nuclear genes
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Neuroendocrine cancer pertinent cancer susceptibility
- Likely inborn error of metabolism
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SDHAF2 was added gene: SDHAF2 was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SDHAF2 were set to Familial Paraganglioma and Pheochromocytoma