1. Genes and Genomic Entities
  2. TARS2

TARS2

threonyl-tRNA synthetase 2, mitochondrial (putative)
OMIM: 612805, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Amber TARS2 in Neonatal diabetes


Level 2: Endocrinology
Version 6.3
Latest signed off version: v6.2 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 21, OMIM:615918
  • combined oxidative phosphorylation defect type 21, MONDO:0014398
Green TARS2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.30
Latest signed off version: v9.29 (12 Aug 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, OMIM:615918
    Green TARS2 in Possible mitochondrial disorder, nuclear genes


    Level 2: Mitochondrial
    Version 5.18
    Latest signed off version: v5.17 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, OMIM:615918
    Green TARS2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

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

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, OMIM: 615918
    • combined oxidative phosphorylation defect type 21,NDO:0014398
    Green TARS2 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, OMIM: 615918
    • combined oxidative phosphorylation defect type 21,NDO:0014398
    Green TARS2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 10.19
    Latest signed off version: v10.18 (12 Aug 2026)

    Component of the following Super Panels:

  • Leukodystrophy, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, OMIM:615918, MONDO:0014398
    Green TARS2 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Combined oxidative phosphorylation deficiency 21, OMIM:615918