PanelApp (staging)
  1. Genes and Genomic Entities
  2. COX8A

COX8A

cytochrome c oxidase subunit 8A
OMIM: 123870, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red COX8A in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059

Red COX8A in Mitochondrial disease


Level 2: Metabolic disorders
Version 0.969

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059