Early onset or syndromic epilepsy
Gene: ALG12
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 Ig. Omim doesn't mention epilepsy/seizures as a phenotype.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 Ig, 607143
Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)Created: 16 Jul 2018, 4:09 p.m.
epilepsy has not been described in this type of Congenital disorder of glycosylationCreated: 4 Jul 2018, 9:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ig 607143
Source Wessex and West Midlands GLH was added to ALG12.
Source NHS GMS was added to ALG12.
Arianna Tucci: epilepsy has not been describe
Gene: alg12 has been classified as Red List (Low Evidence).
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig 607143
Mode of inheritance for gene: ALG12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: alg12 has been classified as Red List (Low Evidence).
Expert Review Amber was added to ALG12. Panel: Genetic Epilepsy Syndromes
ALG12 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ALG12 was created by Sarah Leigh