Mitochondrial disorder with complex II deficiency
Gene: SDHAF2EnsemblGeneIds (GRCh38): ENSG00000167985
EnsemblGeneIds (GRCh37): ENSG00000167985
OMIM: 613019, Gene2Phenotype
SDHAF2 is in 12 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: This gene should remain Amber due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 10:37 a.m.
Carl Fratter (Oxford University Hospitals NHS Trust)
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: no reports of human mitochondrial disease; complex II assembly factorCreated: 10 May 2019, 10:31 a.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
- none found
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: SDHAF2; Suggested intial gene rating: Green.Created: 1 Feb 2019, 4:31 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- No OMIM phenotype
- 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
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SDHAF2 was added gene: SDHAF2 was added to Mitochondrial disorder with complex II deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SDHAF2 was set to Unknown Phenotypes for gene: SDHAF2 were set to No OMIM phenotype