PanelApp (test)
  1. Genes and Genomic Entities
  2. UQCC3

UQCC3

ubiquinol-cytochrome c reductase complex assembly factor 3
OMIM: 616097, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UQCC3 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111

Amber UQCC3 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111