Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |