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Severe Paediatric Disorders v1.127 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.
Severe Paediatric Disorders v1.127 GBA Sarah Leigh Tag new-gene-name tag was added to gene: GBA.
Severe Paediatric Disorders v1.127 GBA Sarah Leigh commented on gene: GBA
Severe Paediatric Disorders v0.17 GBA2 Louise Daugherty Mode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.17 GBA Louise Daugherty Mode of inheritance for gene GBA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.12 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.12 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 GBA2 Louise Daugherty Publications for gene GBA2 were updated from to 30847515
Severe Paediatric Disorders v0.11 GBA Louise Daugherty Publications for gene GBA were updated from to 30847515
Severe Paediatric Disorders v0.10 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.10 GBA Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
Severe Paediatric Disorders v0.9 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.9 GBA Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
Severe Paediatric Disorders v0.9 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.9 GBA Louise Daugherty Added phenotypes Gaucher disease, perinatal lethal, 608013; Gaucher disease, type III, 231000; Gaucher disease, type I, 230800; Gaucher disease, type IIIC, 231005; Gaucher disease, type II, 230900 for gene: GBA
Severe Paediatric Disorders v0.8 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Severe Paediatric Disorders v0.8 GBA Louise Daugherty Added phenotypes Gaucher disease, type I, 230800; Gaucher disease, type II, 230900; Gaucher disease, type IIIC, 231005; Gaucher disease, type III, 231000; Gaucher disease, perinatal lethal, 608013 for gene: GBA
Severe Paediatric Disorders v0.7 GBA2 Louise Daugherty Source Next Generation Children Project was added to GBA2.
Severe Paediatric Disorders v0.7 GBA Louise Daugherty Source Next Generation Children Project was added to GBA.
Severe Paediatric Disorders v0.5 GBA2 Louise Daugherty Source Expert Review Green was added to GBA2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.5 GBA Louise Daugherty Source Expert Review Green was added to GBA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 GBA2 Louise Daugherty gene: GBA2 was added
gene: GBA2 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GBA2 was set to
Severe Paediatric Disorders v0.4 GBA Louise Daugherty gene: GBA was added
gene: GBA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: GBA was set to