Early onset or syndromic epilepsy

Gene: ALG1

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 Ik charecterised by predominant neurological involvement. Schwarz et al, 2004 - multifocal epileptic activity detected alongside other features - died at 2 weeks of age - hom ALG1 missense variant. Kranz et al, 2004 - 2 patients - both developed recurrent refractory seizures in early infancy - died at 10 months and 11 weeks of age - compound het mutations. Dupre et al, 2010 - 5 unrelated French patients - all had at least 12 episode of seizures ranging from 1 treatable occurence in 1 patient to multiple intractable seizures in another - hom or compound het incl 7 novel. Ng et al, 2016 - identify and characterise 39 previously unreported cases from 32 families and add 26 new mutations-seizures/epilepsy in 36/38 (95%).

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 Ik, 608540

Publications

• 20679665

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

Created: 16 Jul 2018, 4:05 p.m.

Green List (high evidence)

Enough evidence to mark as green and the ohenotype includes epilepsy

Created: 4 Jul 2018, 9:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ik 608540