Activity

Filter

Cancel
Date Panel Item Activity
15 actions
Early onset or syndromic epilepsy v1.191 GLB1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GLB1.
Early onset or syndromic epilepsy v1.190 GLB1 Rebecca Foulger Source NHS GMS was added to GLB1.
Early onset or syndromic epilepsy v1.189 GLB1 Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GLB1 Tracy Lester reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29439846; Phenotypes: GM1-gangliosidosis, type I 230500 , GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Marked gene: GLB1 as ready
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Gene: glb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.974 GLB1 Louise Daugherty Classified gene: GLB1 as Green List (high evidence)
Early onset or syndromic epilepsy v0.974 GLB1 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 v0.974 GLB1 Louise Daugherty Gene: glb1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.973 GLB1 Louise Daugherty Publications for gene: GLB1 were set to
Early onset or syndromic epilepsy v0.972 GLB1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotype suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
Early onset or syndromic epilepsy v0.972 GLB1 Louise Daugherty Phenotypes for gene: GLB1 were changed from to GM1-gangliosidosis, type II, 230600; seizures
Early onset or syndromic epilepsy v0.971 GLB1 Louise Daugherty Mode of inheritance for gene: GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy GLB1 Zornitza Stark reviewed gene: GLB1
Early onset or syndromic epilepsy GLB1 Sarah Leigh Added gene to panel