PanelApp (test)
  1. Genes and Genomic Entities
  2. PARS2

PARS2

prolyl-tRNA synthetase 2, mitochondrial
OMIM: 612036, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green PARS2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 75, MIM# 618437

Green PARS2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Epileptic encephalopathy, early infantile, 75, MIM# 618437

    Green PARS2 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    Phenotypes
    • Epileptic encephalopathy, early infantile, 75, MIM# 618437