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Early onset or syndromic epilepsy v1.191 GLUD1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GLUD1.
Early onset or syndromic epilepsy v1.190 GLUD1 Rebecca Foulger Source NHS GMS was added to GLUD1.
Early onset or syndromic epilepsy v1.189 GLUD1 Rebecca Foulger reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GLUD1 Tracy Lester reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19254908; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, 606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Marked gene: GLUD1 as ready
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Gene: glud1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.959 GLUD1 Louise Daugherty Classified gene: GLUD1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.959 GLUD1 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 v0.959 GLUD1 Louise Daugherty Gene: glud1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.958 GLUD1 Louise Daugherty Phenotypes for gene: GLUD1 were changed from Hyperinsulinism-hyperammonemia syndrome, 606762 to Hyperinsulinism-hyperammonemia syndrome, 606762; epilepsy
Early onset or syndromic epilepsy v0.957 GLUD1 Louise Daugherty Publications for gene: GLUD1 were set to 19046187
Early onset or syndromic epilepsy v0.949 GLUD1 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 v0.949 GLUD1 Louise Daugherty Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, 606762
Early onset or syndromic epilepsy v0.948 GLUD1 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Early onset or syndromic epilepsy v0.948 GLUD1 Louise Daugherty Publications for gene: GLUD1 were set to
Early onset or syndromic epilepsy v0.947 GLUD1 Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI from external clinical review and publications
Early onset or syndromic epilepsy v0.947 GLUD1 Louise Daugherty Mode of inheritance for gene: GLUD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19046187; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Early onset or syndromic epilepsy v0.507 GLUD1 Zornitza Stark Deleted their review
Early onset or syndromic epilepsy GLUD1 Zornitza Stark reviewed gene: GLUD1
Early onset or syndromic epilepsy GLUD1 Sarah Leigh Added gene to panel