Possible mitochondrial disorder - nuclear genes
Gene: QARS

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

6 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: 4 Dec 2024, 11:42 a.m. | Last Modified: 4 Dec 2024, 11:42 a.m.

Panel Version: 3.113

Comment on list classification: QARS encodes t-RNA synthetase and it should be included in this panel with green rating in line with other t-RNA synthetases.
Created: 17 Aug 2023, 6:53 p.m. | Last Modified: 17 Aug 2023, 6:53 p.m.

Panel Version: 3.48

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: 17 Aug 2023, 6:51 p.m. | Last Modified: 17 Aug 2023, 6:51 p.m.

Panel Version: 3.46

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 17 Aug 2023, 6:51 p.m.
Last Modified: 17 Aug 2023, 6:51 p.m.
Panel version: 3.113

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1
Created: 6 Sep 2019, 1:58 p.m. | Last Modified: 6 Sep 2019, 1:58 p.m.

Panel Version: 1.2

Created: 6 Sep 2019, 1:58 p.m.
Last Modified: 6 Sep 2019, 1:58 p.m.
Panel version: 1.2

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

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, 615760

Tags

new-gene-name

OMIM

603727

Clinvar variants

Variants in QARS

Penetrance

None

Publications

Panels with this gene