MT-CO3

mitochondrially encoded cytochrome c oxidase III
OMIM: 516050, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red MT-CO3 in Infantile nystagmus

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

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

Red MT-CO3 in Albinism or congenital nystagmus


Version 1.5
Signed off v.1.2 on 3 Mar 2020

review MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Nystagmus

Green MT-CO3 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.414

review MITOCHONDRIAL
Sources
  • Expert Review Green

Green MT-CO3 in Inborn errors of metabolism


Version 2.8
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    Phenotypes
    • LEBER OPTIC ATROPHY
    • SEIZURES AND LACTIC ACIDOSIS
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY

    Red MT-CO3 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.69
    Signed off v.2.2 on 13 Feb 2020

    review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • seizures

    Green MT-CO3 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.6
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • UKGTN

    Green MT-CO3 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review MITOCHONDRIAL
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY

    Green MT-CO3 in Severe Paediatric Disorders


    Version 1.6

    review MITOCHONDRIAL
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • LEBER OPTIC ATROPHY
    • SEIZURES AND LACTIC ACIDOSIS
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY