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 1.10

review MITOCHONDRIAL
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nystagmus
Red MT-CO3 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
Green MT-CO3 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.616

review MITOCHONDRIAL
Sources
  • Expert Review Green
Tags
  • gene-checked
Green MT-CO3 in Likely inborn error of metabolism - targeted testing not possible


Version 4.135
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
    • LEBER OPTIC ATROPHY
    • SEIZURES AND LACTIC ACIDOSIS
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY
    Tags
    • gene-checked
    Red MT-CO3 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.193
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MITOCHONDRIAL
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • seizures
    Green MT-CO3 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
    Tags
    • gene-checked
    No list MT-CO3 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
    Phenotypes
    • MITOCHONDRIAL COMPLEX IV DEFICIENCY
    Tags
    • curated_removed
    Green MT-CO3 in Severe Paediatric Disorders


    Version 1.184

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