Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Osteopetrosis v1.19 SOST Eleanor Williams Phenotypes for gene: SOST were changed from Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100 to Sclerosteosis 1 OMIM:269500; Craniodiaphyseal dysplasia, autosomal dominant OMIM:122860; Van Buchem disease OMIM:239100
Osteopetrosis v1.7 CTSK Eleanor Williams Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800
Osteopetrosis v0.3 SOST Eleanor Williams commented on gene: SOST
Osteopetrosis v0.1 SOST Catherine Snow gene: SOST was added
gene: SOST was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOST was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SOST were set to Sclerosteosis 1 269500; Craniodiaphyseal dysplasia, autosomal dominant 122860; Van Buchem disease 239100
Osteopetrosis v0.1 CTSK Catherine Snow gene: CTSK was added
gene: CTSK was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis 265800