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Mitochondrial disorders

Gene: MT-CO3

Green List (high evidence)
MT-CO3 (mitochondrially encoded cytochrome c oxidase III)
EnsemblGeneIds (GRCh38): ENSG00000198938
EnsemblGeneIds (GRCh37): ENSG00000198938
OMIM: 516050, Gene2Phenotype
MT-CO3 is in 7 panels

3 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
MITOCHONDRIAL

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 10 Feb 2016, 12:48 p.m.
Created: 10 Feb 2016, 12:48 p.m.

Panel version: 0.196

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:32 a.m.

Panel version: 0.37

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
Tags
gene-checked
OMIM
516050
Clinvar variants
Variants in MT-CO3
Penetrance
Complete
Publications
  • LEBER OPTIC ATROPHY
  • MITOCHONDRIAL COMPLEX IV DEFICIENCY
  • SEIZURES AND LACTIC ACIDOSIS
Panels with this gene

History Filter Activity

18 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-CO3.

12 Sep 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-CO3.

8 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-CO3.

10 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MT-CO3 were set to LEBER OPTIC ATROPHY; MITOCHONDRIAL COMPLEX IV DEFICIENCY; SEIZURES AND LACTIC ACIDOSIS

10 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MT-CO3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: UKGTN