Early onset or syndromic epilepsy

Gene: ALG9

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 Il - Frank et al,2004 - patient whose clinical features include severe microcephaly, severe hypotonia, seizures, hepatmegaly, dev delay and bronchial asthma - hom variant detected - yeast complementation assay demenstrated a detrimental effect of the mutation on ALG9 function. Weinstein et al, 2005 - female infant, presentation incl seizures - hom missense variant, yeast complementation studies and functional assays done. AlSubhi et al, 2016 - large consang Saudi family - 4 chidlren had CDG1L - proband developed seizures at 4 months but seizure free at 5.3 cousins were similarly affected - hom missense mutation, segregated in the family, no functional work.

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, 608776; Gillessen-Kaesbach-Nishimura syndrome, 263210

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)

Created: 17 Jul 2018, 9:20 a.m.

Green List (high evidence)

Associated with the phenotype in OMIM, epilepsy is part of the clinical features

Created: 5 Jul 2018, 12:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation type Il 608776