This Panel is marked as Retired
Multiple Tumours
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
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating. Mode of inheritance on TruSight panel: Autosomal dominant, parent-of-origin effectCreated: 5 Feb 2016, 11:47 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- 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
- 613019
- Clinvar variants
- Variants in SDHAF2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorder with complex II deficiency
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Undiagnosed metabolic disorders
- Adult solid tumours cancer susceptibility
- Multiple endocrine tumours
- Mitochondrial disorders
- Inherited phaeochromocytoma and paraganglioma excluding NF1
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Neuroendocrine cancer pertinent cancer susceptibility
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF2 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SDHAF2 was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF2 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)