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STRs in panel
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Inborn errors of metabolism

Gene: MT-CO2

Green List (high evidence)

MT-CO2 (mitochondrially encoded cytochrome c oxidase II)
EnsemblGeneIds (GRCh38): ENSG00000198712
EnsemblGeneIds (GRCh37): ENSG00000198712
OMIM: 516040, Gene2Phenotype
MT-CO2 is in 5 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, 12:47 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • CYTOCHROME c OXIDASE DEFICIENCY
OMIM
516040
Clinvar variants
Variants in MT-CO2
Penetrance
None
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO2

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MT-CO2 was added gene: MT-CO2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL Phenotypes for gene: MT-CO2 were set to CYTOCHROME c OXIDASE DEFICIENCY