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Skeletal dysplasia

Gene: LRP5

Green List (high evidence)

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

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.

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

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

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

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

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

LRP5 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

LRP5 was created by sleigh