1. Genes and Genomic Entities
  2. COX16

COX16

COX16, cytochrome c oxidase assembly homolog
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber COX16 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 complex IV deficiency, nuclear type 22, OMIM:619355
  • Hypertrophic cardiomyopathy
  • Encephalopathy
  • Severe fatal lactic acidosis
Tags
  • gene-checked
Amber COX16 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 complex IV deficiency, nuclear type 22, OMIM:619355
  • Hypertrophic cardiomyopathy
  • Encephalopathy
  • Severe fatal lactic acidosis
Tags
  • gene-checked
Green COX16 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 Green
    Phenotypes
    • COX16-related Developmental Disorder
    Tags
    • gene-checked
    Amber COX16 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 complex IV deficiency, nuclear type 22, OMIM:619355
    • Hypertrophic cardiomyopathy
    • Encephalopathy
    • Severe fatal lactic acidosis
    Tags
    • watchlist
    • gene-checked