Epileptic encephalopathy
Gene: QARSAdded new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1Created: 6 Sep 2019, 2:04 p.m. | Last Modified: 6 Sep 2019, 2:04 p.m.
Panel Version: 1.153
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Probable DD gene and all 4 reviewers agree this should be green. Mode of inheritance confirmed. Mutation consequence from G2P = all missense/in frame.Created: 21 Jan 2016, 11:48 a.m.
Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).Created: 12 Nov 2015, 4:19 p.m.
Tag new-gene-name tag was added to gene: QARS.
This gene has been classified as Green List (High Evidence).
Phenotypes for QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
The Gel status was updated for this whole panel
QARS was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
This proposed gene was validated and added to this panel
QARS was added to Epileptic encephalopathypanel. Sources: Expert Review
QARS was created by Reviewer_03