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| Lysosomal storage disorder v1.78 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.78 | GBA | Sarah Leigh Tag new-gene-name tag was added to gene: GBA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.78 | GBA | Sarah Leigh commented on gene: GBA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.26 | GBA | Sarah Leigh Phenotypes for gene: GBA were changed from Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 to Gaucher disease, type I OMIM:230800; Gaucher disease type I MONDO:0009265; Gaucher disease, type III OMIM:231000; Gaucher disease type III MONDO:0009267; Gaucher disease, type IIIC OMIM:231005; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO:0009268; Gaucher disease, perinatal lethal OMIM:608013; Gaucher disease perinatal lethal MONDO:0011945; Gaucher disease, type II OMIM:230900; Gaucher disease type II MONDO:0009266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GBA | Emma Ashton reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | GBA |
Carol Hardy reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes |
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| Lysosomal storage disorder v0.2 | GBA |
Ivone Leong gene: GBA was added gene: GBA was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease, type I 230800; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005; Gaucher disease, perinatal lethal 608013; Gaucher disease, type II 230900 |
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