06 Aug 2019
Early onset or syndromic epilepsy v1.191
GLRA1
Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRA1.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
GLRA1
Rebecca Foulger Source NHS GMS was added to GLRA1.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
GLRA1
Rebecca Foulger reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
GLRA1
Tracy Lester reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20631190; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
09 Jan 2019
Early onset or syndromic epilepsy v1.12
GLRA1
Louise Daugherty 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
07 Nov 2018
Early onset or syndromic epilepsy v0.579
GLRA1
Sarah Leigh Marked gene: GLRA1 as ready
07 Nov 2018
Early onset or syndromic epilepsy v0.579
GLRA1
Sarah Leigh Added comment: 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.
07 Nov 2018
Early onset or syndromic epilepsy v0.579
GLRA1
Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
07 Nov 2018
Early onset or syndromic epilepsy v0.579
GLRA1
Sarah Leigh Publications for gene: GLRA1 were set to 29602144
07 Nov 2018
Early onset or syndromic epilepsy v0.578
GLRA1
Sarah Leigh Classified gene: GLRA1 as Amber List (moderate evidence)
07 Nov 2018
Early onset or syndromic epilepsy v0.578
GLRA1
Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
07 Nov 2018
Early onset or syndromic epilepsy v0.577
GLRA1
Sarah Leigh Publications for gene: GLRA1 were set to
07 Nov 2018
Early onset or syndromic epilepsy v0.576
GLRA1
Sarah Leigh Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 149400
07 Nov 2018
Early onset or syndromic epilepsy v0.575
GLRA1
Sarah Leigh Mode of inheritance for gene: GLRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
04 Apr 2018
Early onset or syndromic epilepsy
GLRA1
Ellen McDonagh reviewed GLRA1
04 Apr 2018
Early onset or syndromic epilepsy
GLRA1
Sarah Leigh Added gene to panel