Severe microcephalyGene: QARS
Added new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1
Created: 6 Sep 2019, 2 p.m. | Last Modified: 6 Sep 2019, 2 p.m.
Panel Version: 1.72
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Comment on list classification: Rated as Amber because borderline case: 2 cases plus a zebrafish model.
Created: 17 Jan 2017, 1:47 p.m.
Mutations identified in two families and supported by zebrafish model
Created: 12 Jan 2017, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 615760
Tag new-gene-name tag was added to gene: QARS.
Source NHS GMS was added to QARS.
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.
This gene has been classified as Amber List (Moderate Evidence).
QARS was created by agardham
QARS was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen,Literature,UKGTN