CARS

cysteinyl-tRNA synthetase
OMIM: 123859, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CARS in Mendeliome


Version 1.3795

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, developmental delay, and brittle hair syndrome, MIM# 618891
Tags
  • new gene name

Green CARS in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly, developmental delay, and brittle hair syndrome, MIM# 618891
Tags
  • new gene name

Green CARS in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.507

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • microcephaly
  • brittle hair and nails
Tags
  • new gene name