Mitochondrial disorders
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
3 reviews
Ivone Leong (Genomics England Curator)
Until further evidence is provided this gene will remain a red gene.Created: 2 May 2019, 3:37 p.m.
Zornitza Stark (Australian Genomics)
Gene encodes a mitochondrial protein, but the only published evidence I can find is for an association of mono-allelic variants with cancer.Created: 31 Aug 2018, 8:32 a.m.
Shamima Rahman (UCL Institute of Child Health)
aka SDH5Created: 4 Feb 2016, 9:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Sources
-
- Expert list
- Expert
- Emory Genetics Laboratory
- Phenotypes
-
- Mitochondrial Diseases
- Isolated complex II deficiency
- OMIM
- 613019
- Clinvar variants
- Variants in SDHAF2
- Penetrance
- Complete
- 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
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SDHAF2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Emory Genetics Laboratory,Expert,Expert list