Early onset or syndromic epilepsy

Gene: ALG6

I don't know

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

Green List (high evidence)

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.

Green List (high evidence)

Associated with Congenital disorder of glycosylation in OMIM, and epilepsy is part of the phenotype

Created: 4 Jul 2018, 10:04 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ic 603147