DDG2P
Gene: TIMM22

TIMM22 (translocase of inner mitochondrial membrane 22)
EnsemblGeneIds (GRCh38): ENSG00000177370
EnsemblGeneIds (GRCh37): ENSG00000177370
OMIM: 607251, Gene2Phenotype
TIMM22 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for TIMM22-related combined oxidative phosphorylation deficiency are limited, biallelic_autosomal and undetermined (PMID:30452684). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03918.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TIMM22-related combined oxidative phosphorylation deficiency; OMIM:618851.0

Publications

30452684

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Red

Phenotypes

TIMM22-related combined oxidative phosphorylation deficiency
OMIM:618851.0

OMIM

607251

Clinvar variants

Variants in TIMM22

Penetrance

None

Publications

30452684

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: TIMM22 was added gene: TIMM22 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMM22 were set to 30452684 Phenotypes for gene: TIMM22 were set to TIMM22-related combined oxidative phosphorylation deficiency; OMIM:618851.0

DDG2P Gene: TIMM22