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STRs in panel
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Inborn errors of metabolism

Gene: MT-CO1

Green List (high evidence)

MT-CO1 (mitochondrially encoded cytochrome c oxidase I)
EnsemblGeneIds (GRCh38): ENSG00000198804
EnsemblGeneIds (GRCh37): ENSG00000198804
OMIM: 516030, Gene2Phenotype
MT-CO1 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

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, 12:45 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
MITOCHONDRIAL
Sources
Phenotypes
  • CYTOCHROME c OXIDASE I DEFICIENCY
  • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
  • LEBER OPTIC ATROPHY
  • MYOGLOBINURIA, RECURRENT
  • CYTOCHROME c OXIDASE DEFICIENCY
OMIM
516030
Clinvar variants
Variants in MT-CO1
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 I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY for gene: MT-CO1

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: MT-CO1 was added gene: MT-CO1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL Phenotypes for gene: MT-CO1 were set to CYTOCHROME c OXIDASE I DEFICIENCY; SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC; LEBER OPTIC ATROPHY; MYOGLOBINURIA, RECURRENT; CYTOCHROME c OXIDASE DEFICIENCY