PanelApp
  1. Genes and Genomic Entities
  2. COX5A

COX5A

cytochrome c oxidase subunit 5A
OMIM: 603773, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber COX5A in Mendeliome


Version 1.3520

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064
  • pulmonary arterial hypertension
  • lactic acidemia
  • failure to thrive
  • isolated complex IV deficiency

Amber COX5A in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.1085

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064
    • pulmonary arterial hypertension
    • lactic acidemia
    • failure to thrive
    • isolated complex IV deficiency