CARS1

cysteinyl-tRNA synthetase 1
OMIM: 123859, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green CARS1 in Mendeliome


Version 2.10

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 CARS1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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 CARS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.1

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