1. Genes and Genomic Entities
  2. PARS2

PARS2

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green PARS2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.
    • Epileptic encephalopathy, early infantile, 75, 618437
    • Alpers syndrome
    Green PARS2 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.20
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Infantile-onset encephalopathy
    • Alpers syndrome
    • Infantile-onset neurodegenerative disorder
    • Epileptic encephalopathy, early infantile, 75, 61843
    Green PARS2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MONDO:0032752
    • PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy
    • OMIM:618437.0
    Green PARS2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Other
    Phenotypes
    • Epileptic encephalopathy, early infantile, 75, 618437
    Green PARS2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Alpers syndrome
    • Epileptic encephalopathy, early infantile, 75, 618437
    Red PARS2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH