1. Genes and Genomic Entities
  2. UQCRFS1

UQCRFS1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
OMIM: 191327, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green UQCRFS1 in Mitochondrial disorder with complex III deficiency


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
Green UQCRFS1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.32
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
    Green UQCRFS1 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.25
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
    Green UQCRFS1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.5
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
    Green UQCRFS1 in DDG2P


    Version 8.2
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
    Green UQCRFS1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.25
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775