QRSL1

glutaminyl-tRNA amidotransferase subunit QRSL1
OMIM: 617209, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green QRSL1 in Mendeliome


Version 2.361

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 40 MIM#618835

Green QRSL1 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.1

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Combined oxidative phosphorylation deficiency 40 MIM#618835

    Green QRSL1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.53

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 40, MIM#618835