Skeletal dysplasia
Gene: LRP5

LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD. Variants also found in Exudative vitreoretinopathy 4 601813; many cases; Review on behalf of Tracy Lester
Created: 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 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

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

NHS GMS
Emory Genetics Laboratory
Expert Review Green
Expert

Phenotypes

Exudative vitreoretinopathy 4 601813
[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

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4