CARS

cysteinyl-tRNA synthetase
OMIM: 123859, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 3.87 Latest signed off version: v3.1 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.531 Latest signed off version: v5.0 (22 Mar 2023) 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