Early onset or syndromic epilepsy
Gene: ALG1
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
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
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.
Enough evidence to mark as green and the ohenotype includes epilepsyCreated: 4 Jul 2018, 9:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ik 608540
Source Wessex and West Midlands GLH was added to ALG1.
Source NHS GMS was added to ALG1.
Arianna Tucci: Enough evidence to mark as gre
Gene: alg1 has been classified as Green List (High Evidence).
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik 608540
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik 608540
Mode of inheritance for gene: ALG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: alg1 has been classified as Green List (High Evidence).
Expert Review Amber was added to ALG1. Panel: Genetic Epilepsy Syndromes
ALG1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ALG1 was created by Sarah Leigh