Research panel - Severe Paediatric Disorders
Gene: CARS

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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added disease term which has now been added to OMIM.
Created: 15 Jul 2020, 2:10 p.m. | Last Modified: 15 Jul 2020, 2:10 p.m.

Panel Version: 1.8

Created: 15 Jul 2020, 2:10 p.m.
Last Modified: 15 Jul 2020, 2:10 p.m.
Panel version: 1.8

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CARS1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly Developmental Delay and Brittle Hair and Nail; Mode of inheritance:
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.

Panel Version: 0.12

Added new-gene-name tag, new approved HGNC gene symbol for CARS is CARS1 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:08 a.m. | Last Modified: 17 Feb 2020, 10:08 a.m.

Panel Version: 0.7

Created: 17 Feb 2020, 10:08 a.m.
Last Modified: 17 Feb 2020, 10:08 a.m.
Panel version: 0.12

Details

Mode of Inheritance

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

OMIM

123859

Clinvar variants

Variants in CARS

Penetrance

None

Publications

30847515

Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CARS were changed from Microcephaly Developmental Delay and Brittle Hair and Nail to Microcephaly Developmental Delay and Brittle Hair and Nail; Microcephaly, developmental delay, and brittle hair syndrome MIM#618891

21 Feb 2020, Gel status: 3