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Intellectual disability

Gene: QARS

Green List (high evidence)

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

6 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per Louise Daugherty's review; significant developmental delay is noted, with only minor MRI brain anomalies. Appropriate phenotype.
Created: 21 Dec 2017, 1:57 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1
Created: 6 Sep 2019, 1:57 p.m. | Last Modified: 6 Sep 2019, 1:57 p.m.
Panel Version: 2.1022
Comment on phenotypes: formating corrected
Created: 8 Jan 2018, 5:22 p.m.
Recent paper PMID: 28620870 (2017) describes an addtional unrelated case (with ID) supporting the upgrade of this gene to Green on the ID panel. The report broadens the phenotypic spectrum of QARS mutations and suggests that glutaminyl-tRNA synthetase deficiency can cause a syndrome in which the main features are short stature, microcephaly and intellectual disability, without epilepsy and with only minor brain MRI findings. They reviewed all the cases in the literature in addtion to cases they had previously reported and a new case (PMID:24656866, 25041233, 25471517, 25432320, 24709618) and noted that a common severe phenotype was that all patients displayed profound global developmental delay (GDD), and none attained any significant milestones. Almost all patients demonstrated visual inattention or central visual impairment and nearly all had feeding difficulties resulting in gastrostomy insertion. The condition was fatal in half.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy; 615760; Intellectual disability

Publications

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY

Publications

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: 27 Jul 2017, 8:11 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : ddg2p_20141118; ddg2p_201507; omim_20150205_epilepsies; omim_20150205_microcephaly; Nijmegen_ID_candidates; GEL_ID_red_20160217; neuro_20160418_strict; All missense/in frame. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 1:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Mode of pathogenicity
Other

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Two families reported to date. Require further data before diagnostic grade.
Created: 8 Feb 2016, 12:13 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
  • Intellectual disability
Tags
new-gene-name
OMIM
603727
Clinvar variants
Variants in QARS
Penetrance
Complete
Publications
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.

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to QARS.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

8 Jan 2018, 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; Intellectual disability

4 Jan 2018, Gel status: 4

Added New Source, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to QARS. Panel: Intellectual disability Publications for gene QARS was set to ['28620870', '24656866', '25041233', ' 25471517', '25432320', '24709618']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

QARS was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

QARS was added to Intellectual disabilitypanel. Sources: Expert Review Amber