UQCRFS1

ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
OMIM: 191327, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green UQCRFS1 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 0.178

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial Complex III deficiency
    • lactic acidosis
    • fetal bradycardia
    • hypertrophic cardiomyopathy
    • alopecia totalis

    Green UQCRFS1 in Mendeliome


    Version 1.1891

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

    Green UQCRFS1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial Complex III deficiency
    • lactic acidosis
    • fetal bradycardia
    • hypertrophic cardiomyopathy
    • alopecia totalis

    Green UQCRFS1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

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

    Green UQCRFS1 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

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