UQCRFS1:Ensemblv115

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
OMIM: 191327, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red UQCRFS1 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
Phenotypes
  • Mitochondrial Complex III deficiency
  • lactic acidosis
  • fetal bradycardia
  • hypertrophic cardiomyopathy
  • alopecia totalis

Green UQCRFS1 in Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775
  • cardiomyopathy
  • thrombocytopenia
  • hypotonia

Green UQCRFS1 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • fetal bradycardia
  • Mitochondrial Complex III deficiency
  • hypertrophic cardiomyopathy
  • lactic acidosis
  • alopecia totalis