UQCRC1

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UQCRC1 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

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

Amber UQCRC1 in Incidentalome


Version 1.0

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