GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: LRP5EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- DDG2P
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Polycystic liver disease
- Retinal disorders
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Short QT syndrome
- Osteopetrosis
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)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