Severe microcephaly

Gene: QARS

Amber List (moderate evidence)

QARS (glutaminyl-tRNA synthetase)
EnsemblGeneIds (GRCh38): ENSG00000172053
EnsemblGeneIds (GRCh37): ENSG00000172053
OMIM: 603727, Gene2Phenotype
QARS is in 11 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Rated as Amber because borderline case: 2 cases plus a zebrafish model.
17 Jan 2017, 1:47 p.m.

Alice Gardham (Genomics England)

I don't know

Mutations identified in two families and supported by zebrafish model
12 Jan 2017, 1:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 615760
OMIM
603727
Clinvar variants
Variants in QARS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 2

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

17 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Jan 2017, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

QARS was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen,Literature,UKGTN

12 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

QARS was created by agardham