Activity
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6 actions
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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 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 |
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