UQCRH

ubiquinol-cytochrome c reductase hinge protein
OMIM: 613844, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UQCRH in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 11, MIM#620137

Amber UQCRH 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 III deficiency, nuclear type 11, MIM#620137