Early onset or syndromic epilepsy
Gene: GLUL
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. 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
Comment on publications: Added publications to support upgrading of the gene to GreenCreated: 20 Nov 2018, 11:25 a.m.
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, 11:22 a.m.
Comment on mode of inheritance: changed MOI from OMIM and publication PMID:16267323Created: 16 Nov 2018, 4:19 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 16 Nov 2018, 4:18 p.m.
Seizures are part of the phenotype.Created: 14 Aug 2018, 10:52 a.m.
Phenotypes
Glutamine deficiency, congenital, MIM#610015
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to GLUL.
Source NHS GMS was added to GLUL.
Zornitza Stark: Seizures are part of the pheno
Gene: glul has been classified as Green List (High Evidence).
Publications for gene: GLUL were set to
Gene: glul has been classified as Green List (High Evidence).
Mode of inheritance for gene: GLUL was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital, 610015; seizures
Expert Review Amber was added to GLUL. Panel: Genetic Epilepsy Syndromes
GLUL was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
GLUL was created by Sarah Leigh