Early onset or syndromic epilepsy
Gene: ALG3
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 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.
associated with the phenotype in OMIM, and epilepsy is part of the phenotypeCreated: 4 Jul 2018, 10:01 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Id 601110
Source Wessex and West Midlands GLH was added to ALG3.
Source NHS GMS was added to ALG3.
Arianna Tucci: associated with the phenotype
Gene: alg3 has been classified as Green List (High Evidence).
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id 601110
Mode of inheritance for gene: ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: alg3 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ALG3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to ALG3. Panel: Genetic Epilepsy Syndromes
ALG3 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ALG3 was created by Sarah Leigh