Early onset or syndromic epilepsy
Gene: ALG9
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 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.
Associated with the phenotype in OMIM, epilepsy is part of the clinical featuresCreated: 5 Jul 2018, 12:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation type Il 608776
Source Wessex and West Midlands GLH was added to ALG9.
Source NHS GMS was added to ALG9.
Arianna Tucci: Associated with the phenotype
Gene: alg9 has been classified as Green List (High Evidence).
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation type Il 608776
Mode of inheritance for gene: ALG9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: alg9 has been classified as Green List (High Evidence).
Expert Review Amber was added to ALG9. Panel: Genetic Epilepsy Syndromes
ALG9 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ALG9 was created by Sarah Leigh