Possible mitochondrial disorder - nuclear genes
Gene: AIFM1
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
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Combined oxidative phosphorylation deficiency 6, 300816
Comment on mode of inheritance: Source: G2P and OMIM.Created: 10 Feb 2016, 11:28 a.m.
Comment on list classification: Reviewer suggests this should be promoted from red to green. This is a probable DD gene for Combined oxidative phosphorylation deficiency 6 and Cowchock syndrome.Created: 10 Feb 2016, 11:16 a.m.
This gene was submitted as "AIF" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:43 a.m.
gene: AIFM1 was added gene: AIFM1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to Combined oxidative phosphorylation deficiency 6, 300816