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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 8 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

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
  • UKGTN
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

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