Early onset or syndromic epilepsy
Gene: GLUD1
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
AD hyperinsulinism-hyperammonemia syndrome see hypoglycaemic seizures (HHS) - dstinctive form of congenital hyperinsulinism caused by an inborn metabolic error - main clinical feature is recurrent episodes of symptomatic hypoglycaemia. Bahi-Buisson et al, 2008 - retrospectively analysed neuological outcomes of 22 consecutive patients (12 male, 10 female) from 18 months to 40 years. 14 patients had childhood epilepsy, seizures observed in 11/19 ptients with documented GLUT1 mutations.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism-hyperammonemia syndrome, 606762
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.Created: 20 Nov 2018, 11:44 a.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 20 Nov 2018, 10:59 a.m.
Comment on publications: Added publications suggested from external expert review and OMIM to support upgrading of the gene to GreenCreated: 20 Nov 2018, 10:55 a.m.
Comment on mode of inheritance: Changed MOI from external clinical review and publicationsCreated: 20 Nov 2018, 10:53 a.m.
Seizures occur both in the context of hypoglycaemic episodes, but also outside as detailed in this cohort study.Created: 23 Oct 2018, 6:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperinsulinism-hyperammonemia syndrome, MIM#606762
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to GLUD1.
Source NHS GMS was added to GLUD1.
Zornitza Stark: Seizures occur both in the con
Gene: glud1 has been classified as Green List (High Evidence).
Gene: glud1 has been classified as Green List (High Evidence).
Phenotypes for gene: GLUD1 were changed from Hyperinsulinism-hyperammonemia syndrome, 606762 to Hyperinsulinism-hyperammonemia syndrome, 606762; epilepsy
Publications for gene: GLUD1 were set to 19046187
Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, 606762
Publications for gene: GLUD1 were set to
Mode of inheritance for gene: GLUD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Expert Review Amber was added to GLUD1. Panel: Genetic Epilepsy Syndromes
GLUD1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
GLUD1 was created by Sarah Leigh