1. Genes and Genomic Entities
  2. CARS

CARS

cysteinyl-tRNA synthetase
OMIM: 123859, Gene2Phenotype

3 panels

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


Level 2: Dermatology
Version 3.7
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 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
    • Microcephaly Developmental Delay and Brittle Hair and Nails
    Tags
    • new-gene-name
    Green CARS in Intellectual disability


    Level 2: Developmental disorders
    Version 9.375
    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
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891
    Tags
    • new-gene-name