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


Version 2.5
Latest signed off version: v2.0 (22 Mar 2023)

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 - targeted testing not possible


Version 4.137
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • 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


    Version 3.105
    Latest signed off version: v3.0 (22 Mar 2023)

    		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


    Version 3.155
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 4.168
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  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