QRSL1:Ensemblv90

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
OMIM: 617209, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green QRSL1 in Mendeliome


Version 1.3802

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 0.1299

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 Mitochondrial disease


    Level 2: Metabolic disorders
    Version 1.0

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