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Intellectual disability syndromic and non-syndromic

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID is seen as part of this mitochondrial disorder - >35 families reported
Created: 5 Dec 2019, 2:05 a.m. | Last Modified: 5 Dec 2019, 2:05 a.m.
Panel Version: 0.454

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 10; OMIM #614702

Publications

Details

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

History Filter Activity

14 Jan 2020, 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).

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MTO1. Source Expert list was added to MTO1. Mode of inheritance for gene MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10; OMIM #614702 Publications for gene MTO1 were changed from PMID: 26061759; 29331171; 23929671 to PMID: 26061759; 29331171; 23929671

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTO1 was added gene: MTO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTO1 was set to Unknown