Genomics England
GMS Panels
Panels
Genes and Entities

CARS

cysteinyl-tRNA synthetase
OMIM: 123859
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly Developmental Delay and Brittle Hair and Nails
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891
Green
in Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome
R-numbers: R227
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, developmental delay, and brittle hair syndrome, OMIM:618891