Early onset or syndromic epilepsy
Gene: ALG2
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
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
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.
one variant describes in one patient (12684507), not enough to mark as greenCreated: 4 Jul 2018, 9:59 p.m.
Phenotypes for gene: ALG2 were changed from to ?Congenital disorder of glycosylation type Ii, 607906; Myasthenic syndrome congenital 14 with tubular aggregates, 616228
Mode of inheritance for gene: ALG2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source Wessex and West Midlands GLH was added to ALG2.
Source NHS GMS was added to ALG2.
Arianna Tucci: one variant describes in one p
Gene: alg2 has been classified as Red List (Low Evidence).
Publications for gene: ALG2 were set to 12684507
Gene: alg2 has been classified as Red List (Low Evidence).
Expert Review Amber was added to ALG2. Panel: Genetic Epilepsy Syndromes
ALG2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ALG2 was created by Sarah Leigh