06 Aug 2019
Early onset or syndromic epilepsy v1.191
GLUL
Rebecca Foulger Source Wessex and West Midlands GLH was added to GLUL.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
GLUL
Rebecca Foulger Source NHS GMS was added to GLUL.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
GLUL
Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
20 Nov 2018
Early onset or syndromic epilepsy v0.954
GLUL
Louise Daugherty Marked gene: GLUL as ready
20 Nov 2018
Early onset or syndromic epilepsy v0.954
GLUL
Louise Daugherty Gene: glul has been classified as Green List (High Evidence).
20 Nov 2018
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
20 Nov 2018
Early onset or syndromic epilepsy v0.954
GLUL
Louise Daugherty Publications for gene: GLUL were set to
20 Nov 2018
Early onset or syndromic epilepsy v0.953
GLUL
Louise Daugherty Classified gene: GLUL as Green List (high evidence)
20 Nov 2018
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.
20 Nov 2018
Early onset or syndromic epilepsy v0.953
GLUL
Louise Daugherty Gene: glul has been classified as Green List (High Evidence).
16 Nov 2018
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
16 Nov 2018
Early onset or syndromic epilepsy v0.914
GLUL
Louise Daugherty Mode of inheritance for gene: GLUL was changed from to BIALLELIC, autosomal or pseudoautosomal
16 Nov 2018
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
16 Nov 2018
Early onset or syndromic epilepsy v0.913
GLUL
Louise Daugherty Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital, 610015; seizures
14 Aug 2018
Early onset or syndromic epilepsy
GLUL
Zornitza Stark reviewed gene: GLUL
25 Jun 2018
Early onset or syndromic epilepsy
GLUL
Sarah Leigh Added gene to panel