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Early onset or syndromic epilepsy v1.191 GLRB Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRB.
Early onset or syndromic epilepsy v1.190 GLRB Rebecca Foulger Source NHS GMS was added to GLRB.
Early onset or syndromic epilepsy v1.189 GLRB Rebecca Foulger reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GLRB Tracy Lester reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: 21391991; Phenotypes: Hyperekplexia 2, 614619 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.11 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from Hyperekplexia 2 614619 to Hyperekplexia 2, 614619
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Marked gene: GLRB as ready
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Added comment: 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).
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Gene: glrb has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v0.582 GLRB Sarah Leigh Mode of inheritance for gene: GLRB was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.581 GLRB Sarah Leigh Phenotypes for gene: GLRB were changed from to Hyperekplexia 2 614619
Early onset or syndromic epilepsy v0.580 GLRB Sarah Leigh Publications for gene: GLRB were set to
Early onset or syndromic epilepsy GLRB Sarah Leigh Added gene to panel