Possible mitochondrial disorder - nuclear genes
Gene: SDHAF2
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, 1:02 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
Publications
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:43 p.m.
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.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
Unknown
Phenotypes
No OMIM phenotype
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.
aka SDH5Created: 4 Feb 2016, 9:21 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
gene: SDHAF2 was added gene: SDHAF2 was added to Possible mitochondrial disorder - nuclear genes. 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