Early onset or syndromic epilepsy

Gene: AARS2

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: Amber.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

I don't know

AR progressive leukoencephalopathy with ovarian failure and AR combined oxidative phosphorylation deficiency 8 (COXPD8). Seizures/epilepsy not a reported feature on OMIM. Dallabona et al, 2014 - 1 patient (P3 - reported as having seizures), not a major feature of disease.

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
Combined oxidative phosphorylation deficiency 8, 614096; Leukoencephalopathy progressive with ovarian failure, 615889

Publications

• 21549344
• 25817015

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)

Created: 16 Jul 2018, 3:17 p.m.

Red List (low evidence)

epilepsy only described in one patient (in PMID 24808023). not a major feaure of AARS2 .

Created: 29 Jun 2018, 1:37 p.m.