NARS2

asparaginyl-tRNA synthetase 2, mitochondrial
OMIM: 612803, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green NARS2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
  • Combined oxidative phosphorylation deficiency 24
Green NARS2 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
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Combined oxidative phosphorylation deficiency 24
    Green NARS2 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
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 24, 616239
    Green NARS2 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
    • NARS2-associated oxidative phosphorylation deficiency
    Amber NARS2 in Monogenic hearing loss


    Level 2: Audiology
    Version 5.57
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Deafness, autosomal recessive 94 OMIM:618434
    • Combined oxidative phosphorylation deficiency 24 OMIM:616239
    • deafness, autosomal recessive 94 MONDO:0032749
    • combined oxidative phosphorylation defect type 24 MONDO:0014547
    Green NARS2 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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined oxidative phosphorylation deficiency 24, 616239
    • seizures
    Green NARS2 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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • Combined oxidative phosphorylation deficiency 24
    Red NARS2 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