Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Osteopetrosis v0.100 LRP6 Zornitza Stark Marked gene: LRP6 as ready
Osteopetrosis v0.100 LRP6 Zornitza Stark Gene: lrp6 has been classified as Green List (High Evidence).
Osteopetrosis v0.100 LRP6 Zornitza Stark Classified gene: LRP6 as Green List (high evidence)
Osteopetrosis v0.100 LRP6 Zornitza Stark Gene: lrp6 has been classified as Green List (High Evidence).
Osteopetrosis v0.99 LRP6 Zornitza Stark gene: LRP6 was added
gene: LRP6 was added to Osteopetrosis. Sources: Expert List
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP6 were set to 31085352; 32730923; 37065631; 38385987
Phenotypes for gene: LRP6 were set to Osteopetrosis, autosomal dominant 4, MIM# 621449
Review for gene: LRP6 was set to GREEN
Added comment: 5 families reported with a dentoosseous disorder characterised by enhanced osteoblast-mediated bone formation resulting in generalized osteosclerosis and endosteal hyperostosis. Other features include missing teeth, torus palatinus, and intraoral exostoses that sometimes surround teeth.
Sources: Expert List