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DDG2P

Gene: CARS

Amber List (moderate evidence)

CARS (cysteinyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000110619
EnsemblGeneIds (GRCh37): ENSG00000110619
OMIM: 123859, Gene2Phenotype
CARS is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for CARS is CARS1
Created: 6 Sep 2019, 2:14 p.m. | Last Modified: 6 Sep 2019, 2:14 p.m.
Panel Version: 1.80

Rebecca Foulger (Genomics England curator)

I don't know

New gene:disorder association added to DDG2P in March 2019: Microcephaly Developmental Delay and Brittle Hair and Nails. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Created: 22 Apr 2019, 7:34 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • DD-Gene2Phenotype
Phenotypes
  • Microcephaly Developmental Delay and Brittle Hair and Nails
Tags
new-gene-name
OMIM
123859
Clinvar variants
Variants in CARS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 2

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: CARS.

22 Apr 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: CARS was added gene: CARS was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CARS were set to 30824121 Phenotypes for gene: CARS were set to Microcephaly Developmental Delay and Brittle Hair and Nails