06 Aug 2019
Early onset or syndromic epilepsy v1.191
GM2A
Rebecca Foulger Source Wessex and West Midlands GLH was added to GM2A.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
GM2A
Rebecca Foulger Source NHS GMS was added to GM2A.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
GM2A
Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
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
16 Nov 2018
Early onset or syndromic epilepsy v0.912
GM2A
Louise Daugherty Marked gene: GM2A as ready
16 Nov 2018
Early onset or syndromic epilepsy v0.912
GM2A
Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
16 Nov 2018
Early onset or syndromic epilepsy v0.912
GM2A
Louise Daugherty Classified gene: GM2A as Green List (high evidence)
16 Nov 2018
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.
16 Nov 2018
Early onset or syndromic epilepsy v0.912
GM2A
Louise Daugherty Gene: gm2a has been classified as Green List (High Evidence).
16 Nov 2018
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.
16 Nov 2018
Early onset or syndromic epilepsy v0.911
GM2A
Louise Daugherty Publications for gene: GM2A were set to
16 Nov 2018
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
16 Nov 2018
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
16 Nov 2018
Early onset or syndromic epilepsy v0.909
GM2A
Louise Daugherty Phenotypes for gene: GM2A were changed from to GM2-gangliosidosis, AB variant, 272750; seizures
16 Nov 2018
Early onset or syndromic epilepsy v0.908
GM2A
Louise Daugherty Mode of inheritance for gene: GM2A was changed from to BIALLELIC, autosomal or pseudoautosomal
14 Aug 2018
Early onset or syndromic epilepsy
GM2A
Zornitza Stark reviewed gene: GM2A
25 Jun 2018
Early onset or syndromic epilepsy
GM2A
Sarah Leigh Added gene to panel