30 Jun 2022
Early onset or syndromic epilepsy v2.542
GBA
Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for GBA is GBA1.; to: Added new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.
30 Jun 2022
Early onset or syndromic epilepsy v2.542
GBA
Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
30 Jun 2022
Early onset or syndromic epilepsy v2.542
GBA
Sarah Leigh commented on gene: GBA
06 Aug 2019
Early onset or syndromic epilepsy v1.191
GBA
Rebecca Foulger Source Wessex and West Midlands GLH was added to GBA.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
GBA
Rebecca Foulger Source NHS GMS was added to GBA.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
GBA
Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
GBA
Tracy Lester reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 15329082, 18338393 ; Phenotypes: Gaucher disease, perinatal lethal 608013, Gaucher disease, type I 230800, Gaucher disease, type II 230900, Gaucher disease, type III 231000, Gaucher disease, type IIIC 231005, {Lewy body dementia, susceptibility to} 127750, {Parkinson disease, late-onset, susceptibility to} 168600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Nov 2018
Early onset or syndromic epilepsy v0.1013
GBA
Louise Daugherty Marked gene: GBA as ready
20 Nov 2018
Early onset or syndromic epilepsy v0.1013
GBA
Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
20 Nov 2018
Early onset or syndromic epilepsy v0.1012
GBA
Louise Daugherty Classified gene: GBA as Green List (high evidence)
20 Nov 2018
Early onset or syndromic epilepsy v0.1012
GBA
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 v0.1012
GBA
Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
20 Nov 2018
Early onset or syndromic epilepsy v0.1008
GBA
Louise Daugherty Publications for gene: GBA were set to 8929950; 15214004; 12838552; 8829654; 8118460
20 Nov 2018
Early onset or syndromic epilepsy v0.1002
GBA
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 v0.1002
GBA
Louise Daugherty Publications for gene: GBA were set to
20 Nov 2018
Early onset or syndromic epilepsy v0.999
GBA
Louise Daugherty Added comment: Comment on mode of inheritance: Added MOI from external clinical review and publications
20 Nov 2018
Early onset or syndromic epilepsy v0.999
GBA
Louise Daugherty Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
20 Nov 2018
Early onset or syndromic epilepsy v0.998
GBA
Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review and reviewed literature that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panel
20 Nov 2018
Early onset or syndromic epilepsy v0.998
GBA
Louise Daugherty Phenotypes for gene: GBA were changed from to Gaucher disease, perinatal lethal, 608013; Gaucher disease, type II, 230900; Gaucher disease, type III, 231000; Gaucher disease, type IIIC, 231005; seizures
14 Aug 2018
Early onset or syndromic epilepsy
GBA
Zornitza Stark reviewed gene: GBA
25 Jun 2018
Early onset or syndromic epilepsy
GBA
Sarah Leigh Added gene to panel