COX18

COX18, cytochrome c oxidase assembly factor
OMIM: 610428, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green COX18 in Mendeliome


Version 1.3098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial disease (MONDO:0044970), COX18-related

Green COX18 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1005

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease (MONDO:0044970), COX18-related

    Green COX18 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.31

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial disease (MONDO:0044970), COX18-related