PanelApp
  1. Genes and Genomic Entities
  2. QRSL1

QRSL1

glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
OMIM: 617209, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green QRSL1 in Mendeliome


Version 1.3512

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 0.1085

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