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Likely inborn error of metabolism

Gene: QARS

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

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 10:16 a.m. | Last Modified: 12 Mar 2026, 10:16 a.m.
Panel Version: 8.94
Comment on list classification: QARS has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/QARS/) Hence, this gene can also be promoted to green rating on this panel in the next GMS update.
Created: 9 Jun 2025, 5:18 p.m. | Last Modified: 9 Jun 2025, 5:18 p.m.
Panel Version: 8.42
PMID:32042906 - A total of 22 patients have so far been reported with biallelic QARS variants and with microcephaly, progressive, seizures, and cerebral and cerebellar atrophy (MIM #615760), of which 10 cases are from the cohort reported in this publication (epilepsy cohort and recruitment through GeneMatcher and their international network) and 12 cases are from previous literature and reviewed in this publication.
Created: 9 Jun 2025, 5:14 p.m. | Last Modified: 9 Jun 2025, 5:14 p.m.
Panel Version: 8.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760

Publications

Created: 9 Jun 2025, 5:14 p.m.
Last Modified: 9 Jun 2025, 5:14 p.m.
Panel version: 8.94

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
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

Created: 31 Aug 2018, 7 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.67

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.
Created: 2 Mar 2016, 1:55 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.467

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Feb 2016, 11:52 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

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

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green was removed from gene: QARS.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to QARS. Source Expert Review Green was added to QARS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: qars has been classified as Amber List (Moderate Evidence).

9 Jun 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: QARS were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760

9 Jun 2025, Gel status: 2

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: QARS were set to 28620870; 25471517; 25432320; 25041233; 24656866

9 Jun 2025, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: QARS.

17 Mar 2022, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: QARS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2022, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: QARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: QARS were set to

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)