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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.
Early onset or syndromic epilepsy v2.542 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Early onset or syndromic epilepsy v2.542 GBA Sarah Leigh commented on gene: GBA
Early onset or syndromic epilepsy v1.191 GBA Rebecca Foulger Source Wessex and West Midlands GLH was added to GBA.
Early onset or syndromic epilepsy v1.190 GBA Rebecca Foulger Source NHS GMS was added to GBA.
Early onset or syndromic epilepsy v1.189 GBA Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy v0.1013 GBA Louise Daugherty Marked gene: GBA as ready
Early onset or syndromic epilepsy v0.1013 GBA Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1012 GBA Louise Daugherty Classified gene: GBA as Green List (high evidence)
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
Early onset or syndromic epilepsy v0.1012 GBA Louise Daugherty Gene: gba has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.1008 GBA Louise Daugherty Publications for gene: GBA were set to 8929950; 15214004; 12838552; 8829654; 8118460
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
Early onset or syndromic epilepsy v0.1002 GBA Louise Daugherty Publications for gene: GBA were set to
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
Early onset or syndromic epilepsy v0.999 GBA Louise Daugherty Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
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
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
Early onset or syndromic epilepsy GBA Zornitza Stark reviewed gene: GBA
Early onset or syndromic epilepsy GBA Sarah Leigh Added gene to panel