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 1.11

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
  • Optic neuropathy
Green MT-CO1 in Rhabdomyolysis and metabolic muscle disorders


Level 2: Neurology
Version 5.14
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
    • Leber hereditary optic neuropathy, MONDO:0010788
    • myoglobinuria, MONDO:0000866
    Tags
    • gene-checked
    Red MT-CO1 in Albinism or congenital nystagmus


    Level 2: Ophthalmology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		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 1.642

    		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


    Level 2: Metabolic
    Version 8.91
    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 I DEFICIENCY
    • SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC
    • LEBER OPTIC ATROPHY
    • MYOGLOBINURIA, RECURRENT
    • CYTOCHROME c OXIDASE DEFICIENCY
    Tags
    • gene-checked
    Amber MT-CO1 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MITOCHONDRIAL
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Deafness, non-syndromic sensorineural, mitochondrial, OMIM: 500008
    • mitochondrial non-syndromic sensorineural hearing loss, MONDO:0010779
    Tags
    • technical-limitations
    Green MT-CO1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    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
    • 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


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed
    Green MT-CO1 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
    • Leber hereditary optic neuropathy
    • Myoglobinuria
    Tags
    • gene-checked