COX7C

cytochrome c oxidase subunit 7C
OMIM: 603774, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber COX7C in Mitochondrial disorder with complex IV deficiency


Version 3.21
Latest signed off version: v3.20 (1 May 2024)

review Unknown
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
Red COX7C in Likely inborn error of metabolism - targeted testing not possible


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • No OMIM phenotype
    Amber COX7C in Possible mitochondrial disorder - nuclear genes


    Version 3.106
    Latest signed off version: v3.105 (1 May 2024)

    review Unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • No OMIM phenotype
    Red COX7C in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review Not set
    Sources
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • No OMIM phenotype