1. Genes and Genomic Entities
  2. CARS2

CARS2

cysteinyl-tRNA synthetase 2, mitochondrial
OMIM: 612800, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green CARS2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.107
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
    • Victorian Clinical Genetics Services
    Phenotypes
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • No OMIM phenotype
    • Combined oxidative phosphorylation deficiency 27 616672
    Green CARS2 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.27
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Combined oxidative phosphorylation deficiency 27, 616672
    Amber CARS2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Epileptic encephalopathy with complex movement disorder and regression
    Green CARS2 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Epileptic encephalopathy with complex movement disorder and regression
    Green CARS2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.176
    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
    • Expert Review Green
    • Literature
    Phenotypes
    • Combined oxidative phosphorylation deficiency 27, 616672
    Amber CARS2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • Combined oxidative phosphorylation deficiency 27 616672
    Green CARS2 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.51
    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
    • Combined oxidative phosphorylation deficiency 27 616672
    • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
    • No OMIM phenotype