PanelApp (stage)
  1. Genes and Genomic Entities
  2. UQCRC1

UQCRC1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UQCRC1 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Parkinsonism with polyneuropathy, MIM# 619279

    Amber UQCRC1 in Incidentalome


    Version 0.301

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Parkinsonism with polyneuropathy, MIM# 619279