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Gaucher disease v1.2 GBA Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #230800, #230900, #231000, #231005 & #608013) and the OMIM records were last accessed on 18 December 2025.
Gaucher disease v1.2 GBA Achchuthan Shanmugasundram Phenotypes for gene: GBA were changed from to Gaucher disease, type I, OMIM:230800; Gaucher disease, type II, OMIM:230900; Gaucher disease, type III, OMIM:231000; Gaucher disease, type IIIC, OMIM:231005; Gaucher disease, perinatal lethal, OMIM:608013
Gaucher disease v1.1 Eleanor Williams Panel version 1.0 has been signed off on 2023-09-14
Gaucher disease v1.0 Eleanor Williams promoted panel to version 1.0
Gaucher disease v0.3 Eleanor Williams Panel types changed to GMS Rare Disease; GMS signed-off
Gaucher disease v0.2 Achchuthan Shanmugasundram Panel status changed from internal to public
Gaucher disease v0.1 GBA Eleanor Williams commented on gene: GBA
Gaucher disease v0.1 GBA Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: GBA.
Gaucher disease v0.1 GBA Achchuthan Shanmugasundram reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Gaucher disease v0.1 GBA Achchuthan Shanmugasundram gene: GBA was added
gene: GBA was added to Gaucher disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Gaucher disease v0.0 Achchuthan Shanmugasundram Added Panel Gaucher disease
Set list of related panels to R272
Set panel types to: GMS Rare Disease