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Inborn errors of metabolism

Gene: QARS

Amber List (moderate evidence)

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

4 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1
Created: 6 Sep 2019, 1:59 p.m. | Last Modified: 6 Sep 2019, 1:59 p.m.
Panel Version: 1.262

Zornitza Stark (Australian Genomics)

I don't know

Enough patients reported in the literature for Green status, but what is the link to mitochondria/mitochondrial disease?
Created: 31 Aug 2018, 7 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for microcephaly, progressive, seizures, and cerebral and cerebellar atrophy.
Created: 2 Mar 2016, 1:56 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Tags
new-gene-name
OMIM
603727
Clinvar variants
Variants in QARS
Penetrance
None
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: QARS.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: QARS was added gene: QARS was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: QARS was set to Unknown Phenotypes for gene: QARS were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis)