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Early onset or syndromic epilepsy v1.191 GLRA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRA1.
Early onset or syndromic epilepsy v1.190 GLRA1 Rebecca Foulger Source NHS GMS was added to GLRA1.
Early onset or syndromic epilepsy v1.189 GLRA1 Rebecca Foulger reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
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
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Marked gene: GLRA1 as ready
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.
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.579 GLRA1 Sarah Leigh Publications for gene: GLRA1 were set to 29602144
Early onset or syndromic epilepsy v0.578 GLRA1 Sarah Leigh Classified gene: GLRA1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v0.578 GLRA1 Sarah Leigh Gene: glra1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v0.577 GLRA1 Sarah Leigh Publications for gene: GLRA1 were set to
Early onset or syndromic epilepsy v0.576 GLRA1 Sarah Leigh Phenotypes for gene: GLRA1 were changed from to Hyperekplexia 1 149400
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
Early onset or syndromic epilepsy GLRA1 Ellen McDonagh reviewed GLRA1
Early onset or syndromic epilepsy GLRA1 Sarah Leigh Added gene to panel