UQCRC2:Ensemblv115

ubiquinol-cytochrome c reductase core protein 2
OMIM: 191329, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red UQCRC2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Red
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)

Amber UQCRC2 in Prepair 1000+


Level 2: Screening
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Amber
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)