COX18

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber COX18 in Mitochondrial disorder with complex IV deficiency


Level 2: Mitochondrial
Version 4.14
Latest signed off version: v4.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • mitochondrial disease, MONDO:0044970
  • Charcot-Marie-Tooth disease, MONDO:0015626
Tags
  • Q3_25_promote_green
Amber COX18 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Charcot-Marie-Tooth disease, MONDO:0015626
    Tags
    • Q3_25_promote_green
    Amber COX18 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Charcot-Marie-Tooth disease, MONDO:0015626
    Tags
    • Q3_25_promote_green
    Red COX18 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • COX18-related peripheral neuropathy
    Amber COX18 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Charcot-Marie-Tooth disease, MONDO:0015626
    Tags
    • Q3_25_promote_green
    Amber COX18 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • mitochondrial disease, MONDO:0044970
    • Charcot-Marie-Tooth disease, MONDO:0015626
    Tags
    • Q3_25_promote_green
    • Q3_25_NHS_review