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Gene: MTO1

Green List (high evidence)
MTO1 (mitochondrial tRNA translation optimization 1)
EnsemblGeneIds (GRCh38): ENSG00000135297
EnsemblGeneIds (GRCh37): ENSG00000135297
OMIM: 614667, Gene2Phenotype
MTO1 is in 8 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

Combined oxidative phosphorylation deficiency-10 (COXPD10) is an autosomal recessive disorder resulting in variable defects of mitochondrial oxidative respiration. Affected individuals present in infancy with hypertrophic cardiomyopathy and lactic acidosis. The severity is variable, but can be fatal in the most severe cases. Onset at birth or in first months of life, but a few have presented as late as 8 years of age.

Well established gene-disease association, more than 35 families reported.
Created: 30 Jan 2025, 8:59 p.m. | Last Modified: 30 Jan 2025, 8:59 p.m.
Panel Version: 1.1367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 10, MIM#614702

Publications

Created: 30 Jan 2025, 8:59 p.m.
Last Modified: 30 Jan 2025, 8:59 p.m.
Panel version: 1.1367

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined oxidative phosphorylation deficiency 10, MIM#614702
OMIM
614667
Clinvar variants
Variants in MTO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mto1 has been classified as Green List (High Evidence).

30 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTO1 were changed from Combined oxidative phosphorylation deficiency 10, 614702 (3) to Combined oxidative phosphorylation deficiency 10, MIM#614702

30 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTO1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTO1 was added gene: MTO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)