Early onset or syndromic epilepsy
Gene: QARSAdded new-gene-name tag, new approved HGNC gene symbol for QARS is QARS1Created: 6 Sep 2019, 1:57 p.m. | Last Modified: 6 Sep 2019, 1:57 p.m.
Panel Version: 1.263
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR Microcephaly, progressive seizures and cerebral and cerebellar atrophy (MSCCA). Severe - onset first few days of life - intractable seizures. Zhang et al, 2014 - 4 children from 2 unrelated families - compound het mutations in QARS gene - studies in patient cells and expression of recombinent variants in E.Coli showed that all 4 mutations caused a severe loss of QARS catalytic activity, consistent with LOF effect. Salvarinova et al, 2015 - family with a compound het QARS mutation (diff to the previous ones) - seizures reported in family. Alabdullatif et al, 2017 - consang population - identified hom QARS missense variant - child had had febrile seizures.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760
Publications
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.
Source Wessex and West Midlands GLH was added to QARS.
Source NHS GMS was added to QARS.
Ellen McDonagh: Gene added in expert review of
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to QARS. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to QARS. Panel: Genetic Epilepsy Syndromes
QARS was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
QARS was created by Sarah Leigh