1. Genes and Genomic Entities
  2. MT-CO2

MT-CO2

mitochondrially encoded cytochrome c oxidase II
OMIM: 516040, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MT-CO2 in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.17
Latest signed off version: v5.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Cytochrome oxidase deficiency
    • rhabdomyolysis, MONDO:0005290
    • myoglobinuria, MONDO:0000866
    Tags
    • gene-checked
    Green MT-CO2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.643

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • CYTOCHROME c OXIDASE DEFICIENCY
    Tags
    • gene-checked
    Green MT-CO2 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.98
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • CYTOCHROME c OXIDASE DEFICIENCY
    Tags
    • gene-checked
    Green MT-CO2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN
    Phenotypes
    • CYTOCHROME c OXIDASE DEFICIENCY
    Tags
    • gene-checked
    No list MT-CO2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-CO2 in Acute rhabdomyolysis


    Level 2: Neurology
    Version 2.7
    Latest signed off version: v2.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Cytochrome oxidase deficiency, rhabdomyolysis
    Tags
    • gene-checked