Mitochondrial disorders
Gene: AIFM1
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.
Victorian Clinical Genetics Services was added to AIFM1. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Mode of inheritance for AIFM1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mode of inheritance for AIFM1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for AIFM1 were set to Disorders of mitochondrial apoptosis; Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490
Publications for AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327
Publications for AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327;
This gene has been classified as Green List (High Evidence).
AIFM1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AIFM1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
AIFM1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen