Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Osteopetrosis v1.12 | LRP5 | Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal OMIM:144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v1.11 | LRP5 | Eleanor Williams Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.3 | LRP5 | Eleanor Williams commented on gene: LRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Osteopetrosis v0.1 | LRP5 |
Catherine Snow gene: LRP5 was added gene: LRP5 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636 |