UQCC1

ubiquinol-cytochrome c reductase complex assembly factor 1
OMIM: 611797, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber UQCC1 in Mitochondrial disorder with complex III deficiency


Level 2: Mitochondrial
Version 2.14
Latest signed off version: v2.8 (12 Aug 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • mitochondrial respiratory chain complex deficiency, MONDO:0000066
Tags
  • watchlist
Amber UQCC1 in Possible mitochondrial disorder, nuclear genes


Level 2: Mitochondrial
Version 5.23
Latest signed off version: v5.17 (12 Aug 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • mitochondrial respiratory chain complex deficiency, MONDO:0000066
Tags
  • watchlist
Amber UQCC1 in Mitochondrial disorders


Level 2: Mitochondrial
Version 10.23
Latest signed off version: v10.18 (12 Aug 2026)

Component of the following Super Panels:

  • Leukodystrophy, childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • mitochondrial respiratory chain complex deficiency, MONDO:0000066
    Tags
    • watchlist