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DDG2P

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 15 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for AIFM1-related combined oxidative phosphorylation deficiency are strong, monoallelic_X_hemizygous and undetermined (PMIDs: 20362274, 23217327). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01641.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, OMIM:300816 is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMIDs: 23217327;20362274).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, OMIM:300816; OMIM:300816.0; AIFM1-related combined oxidative phosphorylation deficiency

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable (for all listed disorders). DDG2P mode of pathogenicity for both disorders: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: AIFM1 was changed from Other to None

4 Oct 2023, Gel status: 3

Added New Source, Set mode of pathogenicity, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to AIFM1. Mode of pathogenicity for gene AIFM1 was changed from Other - please provide details in the comments to Other Publications for gene: AIFM1 were updated from 20362274 to 23217327; 20362274 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Oct 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: AIFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521; COWCHOCK SYNDROME to COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 300816; COWCHOCK SYNDROME 310490

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

Set Phenotypes, Set publications

Rebecca Foulger (Genomics England curator)

Added phenotypes COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 319521 for gene: AIFM1 Publications for gene AIFM1 were changed from 23217327 to 20362274

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: AIFM1 was added gene: AIFM1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype 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 23217327 Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME Mode of pathogenicity for gene: AIFM1 was set to Other - please provide details in the comments