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Early onset or syndromic epilepsy v1.191 GLUL Rebecca Foulger Source Wessex and West Midlands GLH was added to GLUL.
Early onset or syndromic epilepsy v1.190 GLUL Rebecca Foulger Source NHS GMS was added to GLUL.
Early onset or syndromic epilepsy v1.189 GLUL Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GLUL Tracy Lester reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: ; Publications: 21353613, 16267323 ; Phenotypes: Glutamine deficiency, congenital, 610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Marked gene: GLUL as ready
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Gene: glul has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Added comment: Comment on publications: Added publications to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.954 GLUL Louise Daugherty Publications for gene: GLUL were set to
Early onset or syndromic epilepsy v0.953 GLUL Louise Daugherty Classified gene: GLUL as Green List (high evidence)
Early onset or syndromic epilepsy v0.953 GLUL Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.953 GLUL Louise Daugherty Gene: glul has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.914 GLUL Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI from OMIM and publication PMID:16267323
Early onset or syndromic epilepsy v0.914 GLUL Louise Daugherty Mode of inheritance for gene: GLUL was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.913 GLUL Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.913 GLUL Louise Daugherty Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital, 610015; seizures
Early onset or syndromic epilepsy GLUL Zornitza Stark reviewed gene: GLUL
Early onset or syndromic epilepsy GLUL Sarah Leigh Added gene to panel