Early onset or syndromic epilepsy

Gene: ALG3

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 congenital disorder of glycosylation type Id - typically presents with severe neurologic involvement assoc with dysmorphism and visual impairment. Stibler et al, 1995 - 2 unrelated infants - both developed intractable seizures, 1 of these had a hom ALG3 variant. Kranz et al, 2007 - 2 sibs - both developed intractable seizures shortly after birth - compound het variants, parents unaff carriers. Alsubhi et al paper, 2017 - retrospectively reviewing Saudi patients with CDG - 7 with ALG3-CDG - none presented with 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
Congenital disorder of glycosylation, 601110

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

Created: 17 Jul 2018, 8:46 a.m.

Green List (high evidence)

associated with the phenotype in OMIM, and epilepsy is part of the phenotype

Created: 4 Jul 2018, 10:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Id 601110