Early onset or syndromic epilepsy
Gene: GLRA1
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
GLRA1 appears to have a well-characterised association with hyperekplexia, which can be associated with 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperekplexia 1, 149400
Publications
Comment when marking as ready: At least 15 variants have been reported in cases with Hyperekplexia 1 149400, however, the seizures associated with this disorder to not have concomitant discharges on EEG analysis.Created: 7 Nov 2018, 3:19 p.m.
Publication describing a young girl with excessive startle reflex, weird laughing and developmental delay since early infancy. She also suffered from infantile spasms and generalized tonic-clonic seizures, and became seizure-free with antiepileptic drugs treatment. A novel heterozygous variant was identified in this gene in the daughter and mother (who also appeared with excessive startle reflex during early infancy). Multiple families reported in OMIM with association with hyperekplexia and variants in this gene.Created: 4 Apr 2018, 3:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hyperekplexia; developmental delay; infantile spasms and generalized tonic-clonic seizures
Publications
Source Wessex and West Midlands GLH was added to GLRA1.
Source NHS GMS was added to GLRA1.
Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1 149400 to Hyperekplexia, hereditary 1, 149400; Hyperekplexia; developmental delay; infantile spasms and generalized tonic-clonic seizures
Ellen McDonagh: Publication describing a young
Gene: glra1 has been classified as Amber List (Moderate Evidence).
Publications for gene: GLRA1 were set to 29602144
Gene: glra1 has been classified as Amber List (Moderate Evidence).
Publications for gene: GLRA1 were set to
Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 149400
Mode of inheritance for gene: GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
GLRA1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
GLRA1 was created by Sarah Leigh