Activity

Filter

Cancel
Date Panel Item Activity
17 actions
Early onset or syndromic epilepsy v1.191 GM2A Rebecca Foulger Source Wessex and West Midlands GLH was added to GM2A.
Early onset or syndromic epilepsy v1.190 GM2A Rebecca Foulger Source NHS GMS was added to GM2A.
Early onset or syndromic epilepsy v1.189 GM2A Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 GM2A Tracy Lester reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26203402, 28417072 ; Phenotypes: GM2-gangliosidosis, AB variant, 272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Marked gene: GM2A as ready
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Classified gene: GM2A as Green List (high evidence)
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Added comment: Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.
Early onset or syndromic epilepsy v0.912 GM2A Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.911 GM2A Louise Daugherty Added comment: Comment on publications: Publications added support gene-disease association and rating of this gene to Green.
Early onset or syndromic epilepsy v0.911 GM2A Louise Daugherty Publications for gene: GM2A were set to
Early onset or syndromic epilepsy v0.910 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant, 272750; seizures to GM2-gangliosidosis, AB variant, 272750; seizures; Hexosaminidase activator deficiency; Tay-Sachs disease
Early onset or syndromic epilepsy v0.909 GM2A 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 v0.909 GM2A Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750; seizures
Early onset or syndromic epilepsy v0.908 GM2A Louise Daugherty Mode of inheritance for gene: GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy GM2A Zornitza Stark reviewed gene: GM2A
Early onset or syndromic epilepsy GM2A Sarah Leigh Added gene to panel