1. Genes and Genomic Entities
  2. MT-CO2

MT-CO2

mitochondrially encoded cytochrome c oxidase II
OMIM: 516040, Gene2Phenotype

7 panels

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

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0 (22 Mar 2023)

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 1.617

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • CYTOCHROME c OXIDASE DEFICIENCY
    Tags
    • gene-checked
    Green MT-CO2 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-CO2 in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • CYTOCHROME c OXIDASE DEFICIENCY
    Green MT-CO2 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

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