Early onset or syndromic epilepsy
Gene: GLDC
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 glycine encephalopathy - neonatal and infantile forms assocaited with seizures but not the mild or late-onset forms. With neonatal form may not survive to point of developing seizures.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
Glycine encephalopathy, 605899
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease associationCreated: 20 Nov 2018, 12:20 p.m.
Comment on publications: Added publications to support upgrading of the gene to GreenCreated: 20 Nov 2018, 12:18 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 20 Nov 2018, 11:59 a.m.
Seizures are part of the phenotype.Created: 14 Aug 2018, 9:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycine encephalopathy, MIM#605899
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to GLDC.
Source NHS GMS was added to GLDC.
Zornitza Stark: Seizures are part of the pheno
Gene: gldc has been classified as Green List (High Evidence).
Gene: gldc has been classified as Green List (High Evidence).
Publications for gene: GLDC were set to
Mode of inheritance for gene: GLDC was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were changed from to Glycine encephalopathy, 605899; seizures
Expert Review Amber was added to GLDC. Panel: Genetic Epilepsy Syndromes
GLDC was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
GLDC was created by Sarah Leigh