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Inborn errors of metabolism

Gene: AIFM1

Green List (high evidence)

AIFM1 (apoptosis inducing factor mitochondria associated 1)
EnsemblGeneIds (GRCh38): ENSG00000156709
EnsemblGeneIds (GRCh37): ENSG00000156709
OMIM: 300169, Gene2Phenotype
AIFM1 is in 13 panels

2 reviews

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
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Disorders of mitochondrial apoptosis
  • Cowchock syndrome, 310490
  • Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Combined oxidative phosphorylation deficiency 6, 300816
OMIM
300169
Clinvar variants
Variants in AIFM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to AIFM1. Source London North GLH was added to AIFM1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Disorders of mitochondrial apoptosis; Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816 for gene: AIFM1 Publications for gene AIFM1 were changed from PMID: 20362274 (two related males); PMID: 23217327 to 27604308

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: AIFM1 was added gene: AIFM1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AIFM1 were set to PMID: 20362274 (two related males); PMID: 23217327 Phenotypes for gene: AIFM1 were set to Disorders of mitochondrial apoptosis; Cowchock syndrome, 310490; Combined oxidative phosphorylation deficiency 6, 300816