Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: QARS

Green List (high evidence)

QARS (glutaminyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000172053
EnsemblGeneIds (GRCh37): ENSG00000172053
OMIM: 603727, Gene2Phenotype
QARS is in 10 panels

1 review

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: QARS; Recommended initial gene rating: Green List (high evidence); Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:24 p.m. | Last Modified: 20 Feb 2020, 5:24 p.m.
Panel Version: 0.12
Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1 (current gene symbol submitted by Next Generation Children Project)
Created: 17 Feb 2020, 10:42 a.m. | Last Modified: 17 Feb 2020, 10:42 a.m.
Panel Version: 0.7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
Tags
new-gene-name
OMIM
603727
Clinvar variants
Variants in QARS
Penetrance
None
Publications
Panels with this gene