Structural basal ganglia disorders

Gene: AIFM1

Red List (low evidence)

AIFM1 (apoptosis inducing factor mitochondria associated 1)
EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 15 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment 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.

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

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)

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 300816
Tags
watchlist
OMIM
300169
Clinvar variants
Variants in AIFM1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Mar 2017, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

promoted 16/03/2017

14 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Mar 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AIFM1 were set to 20362274

14 Mar 2017, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for AIFM1 were set to 27290639; 20362274

7 Sep 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

AIFM1 was added to Structural basal ganglia disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

7 Sep 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

AIFM1 was added to Structural basal ganglia disorderspanel. Sources: Radboud University Medical Center, Nijmegen

7 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

AIFM1 was created by sleigh