Genetic epilepsy syndromesGene: GLRB
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: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AR hyperekplexia. Seizures don't seem to be a feature.
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
Hyperekplexia 2, 614619
Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. However, one case in a large Saudi Arabian family was reported with seizures and a possible history of meningitis in infancy (PMID 21391991).
Created: 7 Nov 2018, 3:24 p.m.
Source Wessex and West Midlands GLH was added to GLRB.
Source NHS GMS was added to GLRB.
Phenotypes for gene: GLRB were changed from Hyperekplexia 2 614619 to Hyperekplexia 2, 614619
Sarah Leigh: Comment when marking as ready:
Gene: glrb has been classified as Red List (Low Evidence).
Mode of inheritance for gene: GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLRB were changed from to Hyperekplexia 2 614619
Publications for gene: GLRB were set to
GLRB was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
GLRB was created by Sarah Leigh