Mitochondrial disorders
Gene: AIFM1EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 15 panels
2 reviews
Shamima Rahman (UCL Institute of Child Health)
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Disorders of mitochondrial apoptosis
- Combined oxidative phosphorylation deficiency 6, 300816
- Cowchock syndrome, 310490
- OMIM
- 300169
- Clinvar variants
- Variants in AIFM1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Intellectual disability
- Structural basal ganglia disorders
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Mitochondrial disorders
- Hereditary neuropathy or pain disorder
- Adult onset dystonia, chorea or related movement disorder
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to AIFM1. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AIFM1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for AIFM1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for AIFM1 were set to Disorders of mitochondrial apoptosis; Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327
Set publications
Ellen McDonagh (Genomics England Curator)Publications for AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327;
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)AIFM1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)AIFM1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)AIFM1 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen