1. Genes and Genomic Entities
  2. UQCRC1

UQCRC1

ubiquinol-cytochrome c reductase core protein 1
OMIM: 191328, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber UQCRC1 in Mitochondrial disorder with complex III deficiency


Level 2: Mitochondrial
Version 2.7
Latest signed off version: v2.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Parkinsonism with polyneuropathy, OMIM:619279
Amber UQCRC1 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Parkinsonism with polyneuropathy, OMIM:619279
    Tags
    • watchlist
    Amber UQCRC1 in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 9.4
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    Phenotypes
    • Parkinsonism with polyneuropathy, OMIM:619279
    Amber UQCRC1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 5.4
    Latest signed off version: v5.0 (6 May 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Parkinsonism with polyneuropathy, OMIM:619279
    Amber UQCRC1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.4
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Parkinsonism with polyneuropathy, OMIM:619279
    Amber UQCRC1 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Parkinsonism with polyneuropathy, OMIM:619279