GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: LRP5
OI and decreasing bone density gp of SD. Variants also found in Exudative vitreoretinopathy 4 601813; many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hyperostosis, endosteal 144750; Osteopetrosis, autosomal dominant 1 607634; Osteoporosis-pseudoglioma syndrome 259770; Osteosclerosis 144750; van Buchem disease, type 2 607636; [Bone mineral density variability 1] 601884; {Osteoporosis} 166710
gene: LRP5 was added gene: LRP5 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to [Bone mineral density variability 1] 601884; Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; van Buchem disease, type 2 607636; Osteoporosis-pseudoglioma syndrome 259770; Hyperostosis, endosteal 144750; {Osteoporosis} 166710