MT-CO1

mitochondrially encoded cytochrome c oxidase I
OMIM: 516030, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red MT-CO1 in Infantile nystagmus

Level 3: Ocular movement disorders
Level 2: Ophthalmological disorders
Version 1.3

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
  • Optic neuropathy

Red MT-CO1 in Albinism or congenital nystagmus


Version 1.19
Latest signed off version: v1.18 (4 Aug 2021)

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 1.450

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

Green MT-CO1 in Inborn errors of metabolism


Version 2.105
Latest signed off version: v2.104 (16 Dec 2021)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Green MT-CO1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.24
    Latest signed off version: v2.23 (16 Dec 2021)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • 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

    No list MT-CO1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.87
    Latest signed off version: v1.86 (16 Dec 2021)

    review MITOCHONDRIAL
    Sources
    • Expert Review Removed
    • London North GLH
    Tags
    • curated_removed

    Green MT-CO1 in Severe Paediatric Disorders


    Version 1.66

    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