Multiple endocrine tumours
Gene: SDHAF2EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 12 panels
5 reviews
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Katie Snape (South London GMC)
Ellen Thomas (Genomics England Curator)
Comment on mode of pathogenicity: Only one Dutch founder missense mutation in OMIM.Created: 2 Feb 2016, 2:47 p.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Three reviewers agree this should be promoted from red to green.Created: 1 Feb 2016, 12:54 p.m.
Comment on mode of inheritance: Imprinting status differs between reviewers. Monoallelic confirmed on OMIM.Created: 1 Feb 2016, 12:54 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Phenotypes
-
- Endocrine Cancer
- familial paraganglioma
- OMIM
- 613019
- Clinvar variants
- Variants in SDHAF2
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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
Set mode of pathogenicity
Ellen Thomas (Genomics England Curator)Mode of pathogenicity for SDHAF2 was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SDHAF2 were set to Endocrine Cancer; familial paraganglioma
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for SDHAF2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Eik Haraldsdottir (Genomics England)SDHAF2 was added to Multiple endocrine tumourspanel. Sources: Emory Genetics Laboratory