Early onset or syndromic epilepsy
Gene: ALG6
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 Ic - characterised by psychomotor retardation, with delayed walking and speech, hypotonia and seizures. Korner et al, 1998 - 7 year old girl, seizures from 11 months - occurred during infections. Sun et al, 2005 - seizures - compound het variant identifed. Miller et al, 2011 - myoclonic episodes - hom variant identifed. Functional work has been done in some variants. Morava et al, 2016 - retrospectively evaluated the clinical data of 41 patients diagnosed with ALG6-CDG between 1995 & 2013 either registered by euroglycan database or followed by a clinician involved in eoroglycanet. 30/41 had seizures - 6/41 patients don't appear to have had molecular testing - rest are hom/compound het.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, 603147
Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)Created: 17 Jul 2018, 8:50 a.m.
Associated with Congenital disorder of glycosylation in OMIM, and epilepsy is part of the phenotypeCreated: 4 Jul 2018, 10:04 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ic 603147
Source Wessex and West Midlands GLH was added to ALG6.
Source NHS GMS was added to ALG6.
Arianna Tucci: Associated with Congenital dis
Gene: alg6 has been classified as Green List (High Evidence).
Mode of inheritance for gene: ALG6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: alg6 has been classified as Green List (High Evidence).
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic 603147
Expert Review Amber was added to ALG6. Panel: Genetic Epilepsy Syndromes
ALG6 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ALG6 was created by Sarah Leigh