PanelApp (test)
  1. Genes and Genomic Entities
  2. COX16

COX16

COX16, cytochrome c oxidase assembly homolog
Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber COX16 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355
  • Hypertrophic cardiomyopathy
  • encephalopathy
  • severe fatal lactic acidosis

Amber COX16 in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.927

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355
    • Hypertrophic cardiomyopathy
    • encephalopathy
    • severe fatal lactic acidosis