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  3. TIMM22
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Mitochondrial disease

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

One compound heterozygote case identified with supporting in vitro and patient cell functional assays.
Sources: NHS GMS
Created: 20 Mar 2020, 4:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
mitochondrial myopathy; hypotonia; gastroesophageal reflux disease

Publications

Created: 20 Mar 2020, 4:44 a.m.

Panel version: Imported from Mendeliome panel version 0.1779

Bryony Thompson (Royal Melbourne Hospital)

I don't know

One compound heterozygote case identified with supporting in vitro and patient cell functional assays. No OMIM phenotype recorded.
Sources: NHS GMS
Created: 20 Mar 2020, 1:02 a.m. | Last Modified: 20 Mar 2020, 1:02 a.m.
Panel Version: 0.214

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypotonia; gastroesophageal reflux disease

Publications

Created: 20 Mar 2020, 1:02 a.m.
Last Modified: 20 Mar 2020, 1:02 a.m.
Panel version: 0.214

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Amber
  • NHS GMS
  • NHS GMS
Phenotypes
  • hypotonia
  • gastroesophageal reflux disease
OMIM
607251
Clinvar variants
Variants in TIMM22
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

20 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TIMM22 was added gene: TIMM22 was added to Mitochondrial disease. Sources: 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 hypotonia; gastroesophageal reflux disease Review for gene: TIMM22 was set to AMBER