Early onset or syndromic epilepsy

Gene: ALG2

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: Red.

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

Panel Version: 1.189

Red List (low evidence)

Congenital disorder of glycosylation- associated genes (?test one, test them all?). AR congenital disorder of glycosylation type Ii. Thiel et al 2003 - female patient normal at birth except for bilateral colobomas of the iris. In first year of life - developed multisyatem disorder with mental retardation, seizures, hypomelination. A 1 bp del and a 1bp substitution detected in this patient. On HGMD pro - variants in ALG2 reported in association with CMS - looked at paper and none of patients reported to have seizures/epilepsy.

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
?Congenital disorder of glycosylation type Ii, 607906; Myasthenic syndrome congenital 14 with tubular aggregates, 616228

Publications

• 12684507

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)

Created: 16 Jul 2018, 4:11 p.m.

Red List (low evidence)

one variant describes in one patient (12684507), not enough to mark as green

Created: 4 Jul 2018, 9:59 p.m.