Early onset or syndromic epilepsy

Gene: QARS

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: 1.263

I don't know

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

Green List (high evidence)

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

• 24656866
• 25432320

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Zang et al (2014) AJHG 94, 547_558

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Zang et al (2014) AJHG 94, 547_558

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Zang et al (2014) AJHG 94, 547_558

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• Zang et al (2014) AJHG 94, 547 558

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.