Structural basal ganglia disorders
Gene: AIFM1Comment when marking as ready: Associated with phenotype in OMIM and as a probable G2P. Only 1 variants reported for Combined oxidative phosphorylation deficiency 6 300816 with basal ganglia involvement in 2 Italian male cousins (PMID 20362274).Created: 14 Mar 2017, 5:49 p.m.
I am not sure whether more than one family with basal ganglia abnormalities have been described?
Probably should include though.Created: 1 Mar 2017, 1:50 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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.
promoted 16/03/2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for AIFM1 were set to 20362274
Publications for AIFM1 were set to 27290639; 20362274
AIFM1 was added to Structural basal ganglia disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
AIFM1 was added to Structural basal ganglia disorderspanel. Sources: Radboud University Medical Center, Nijmegen
AIFM1 was created by sleigh