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Intellectual disability v3.1618 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.
Intellectual disability v3.1618 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Intellectual disability v3.1618 GBA Sarah Leigh commented on gene: GBA
Intellectual disability v3.854 GBA2 Catherine Snow Source: Expert Review Red was removed from gene: GBA2
Intellectual disability v3.252 GBA2 Arina Puzriakova commented on gene: GBA2
Intellectual disability v3.0 GBA2 Zornitza Stark reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: None
Intellectual disability v2.468 GBA Louise Daugherty Source Victorian Clinical Genetics Services was added to GBA.
Intellectual disability v2.408 GBA Louise Daugherty commented on gene: GBA: In view of an external green review, this gene was reviewed again internally and with out internal clinical team. it was decided his gene should remain Amber. It was noted that the commonest type is type 1, where ID is not a clear feature, and that there are sufficient other features to suggest a metabolic / storage dysfunction in all types of Gaucher disease to prompt diagnosis via the undiagnosed metabolic route. So we have decided to leave this gene as amber on ID panel in view of the likely low yield and the complication of the later incidental neurological risks.
Intellectual disability GBA Louise Daugherty edited their review of gene: GBA
Intellectual disability GBA Zornitza Stark reviewed gene: GBA
Intellectual disability GBA2 BRIDGE consortium edited their review of GBA2
Intellectual disability GBA BRIDGE consortium edited their review of GBA
Intellectual disability GBA2 BRIDGE consortium edited their review of GBA2
Intellectual disability GBA BRIDGE consortium edited their review of GBA
Intellectual disability GBA Louise Daugherty classified GBA as amber
Intellectual disability GBA Louise Daugherty commented on GBA
Intellectual disability GBA2 BRIDGE consortium reviewed GBA2
Intellectual disability GBA BRIDGE consortium reviewed GBA