UQCC2

ubiquinol-cytochrome c reductase complex assembly factor 2
OMIM: 614461, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber UQCC2 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • MetBioNet
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 7, 615824

Red UQCC2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
  • MC3DN7