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, 11:44 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
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LRP5; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Tier 1Created: 17 Jun 2016, 8:05 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Exudative vitreoretinopathy 4 601813; 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
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes [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 for gene: LRP5
Source NHS GMS was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for LRP5 were set to Exudative vitreoretinopathy 4 601813; 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
LRP5 was added to Unexplained skeletal dysplasiapanel. Source: Expert LRP5 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory LRP5 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene LRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
LRP5 was added to Unexplained skeletal dysplasiapanel. Sources:
LRP5 was created by sleigh