1. Genes and Genomic Entities
  2. MT-CO1

MT-CO1

mitochondrially encoded cytochrome c oxidase I
OMIM: 516030, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Red MT-CO1 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.10

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
  • Optic neuropathy
Green MT-CO1 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
    • Leber hereditary optic neuropathy, MONDO:0010788
    • myoglobinuria, MONDO:0000866
    Tags
    • gene-checked
    Red MT-CO1 in Albinism or congenital nystagmus


    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Red
    Phenotypes
    • Nystagmus
    • Optic neuropathy
    Green MT-CO1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • LEBER OPTIC ATROPHY
    • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
    • CYTOCHROME c OXIDASE DEFICIENCY
    • MYOGLOBINURIA, RECURRENT
    • CYTOCHROME c OXIDASE I DEFICIENCY
    Tags
    • gene-checked
    Green MT-CO1 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 I DEFICIENCY
    • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
    • LEBER OPTIC ATROPHY
    • MYOGLOBINURIA, RECURRENT
    • CYTOCHROME c OXIDASE DEFICIENCY
    Tags
    • gene-checked
    Green MT-CO1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.169
    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
    • LEBER OPTIC ATROPHY
    • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
    • CYTOCHROME c OXIDASE DEFICIENCY
    • MYOGLOBINURIA, RECURRENT
    • CYTOCHROME c OXIDASE I DEFICIENCY
    Tags
    • gene-checked
    No list MT-CO1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-CO1 in Severe Paediatric Disorders


    Version 1.184

    		review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LEBER OPTIC ATROPHY
    • CYTOCHROME c OXIDASE DEFICIENCY
    • MYOGLOBINURIA, RECURRENT
    • CYTOCHROME c OXIDASE I DEFICIENCY
    • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
    Green MT-CO1 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
    • Leber hereditary optic neuropathy
    • Myoglobinuria
    Tags
    • gene-checked