CARS

cysteinyl-tRNA synthetase
OMIM: 123859, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CARS in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891
Tags
  • new-gene-name
Green CARS in DDG2P


Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Microcephaly Developmental Delay and Brittle Hair and Nails
    Tags
    • new-gene-name
    Green CARS in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891
    Tags
    • new-gene-name
    Green CARS in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly Developmental Delay and Brittle Hair and Nail
    • Microcephaly, developmental delay, and brittle hair syndrome MIM#618891
    Tags
    • new-gene-name