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  3. QARS
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BRIDGE_SPEED_NEURO_20170705

Gene: QARS

Green List (high evidence)
QARS (glutaminyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000172053
EnsemblGeneIds (GRCh37): ENSG00000172053
OMIM: 603727, Gene2Phenotype
QARS is in 9 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_201507;in_ddg2p_2_4_2017;in_omim_20150205_epilepsies;in_omim_20150205_microcephaly . Main mutation mechanism : All missense/in frame
Created: 28 Jul 2017, 10:39 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Other

Created: 2 Aug 2017, 6:30 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1
Created: 6 Sep 2019, 2:04 p.m. | Last Modified: 6 Sep 2019, 2:04 p.m.
Panel Version: 0.201
Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 2:06 p.m.
Created: 31 Jul 2017, 2:06 p.m.

Panel version: 0.201

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
Tags
new-gene-name
OMIM
603727
Clinvar variants
Variants in QARS
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Sep 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

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

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

QARS was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

QARS was created by LouiseD