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Possible mitochondrial disorder - nuclear genes

Gene: TIMM22

Amber List (moderate evidence)

TIMM22 (translocase of inner mitochondrial membrane 22)
EnsemblGeneIds (GRCh38): ENSG00000177370
EnsemblGeneIds (GRCh37): ENSG00000177370
OMIM: 607251, Gene2Phenotype
TIMM22 is in 2 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studies
Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mitochondrial carrier translocase deficiency


Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. PMID: 30452684 - one case reported. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Created: 29 Mar 2019, 4:52 p.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

No OMIM phenotype



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Amber
  • No OMIM phenotype
Clinvar variants
Variants in TIMM22
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: timm22 has been classified as Amber List (Moderate Evidence).

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: TIMM22 was added gene: TIMM22 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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 No OMIM phenotype