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  3. LRP5
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Osteopetrosis

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

1 review

Eleanor Williams (Genomics England Curator)

This gene has been added to the panel as green on the recommendation of GMS specialist disease group experts.
Created: 20 Aug 2020, 4:32 p.m. | Last Modified: 20 Aug 2020, 4:32 p.m.
Panel Version: 0.3
Created: 20 Aug 2020, 4:32 p.m.
Last Modified: 20 Aug 2020, 4:32 p.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal dominant 1 OMIM:607634
  • Osteosclerosis OMIM:144750
  • Hyperostosis, endosteal OMIM:144750
  • [Bone mineral density variability 1] OMIM:601884
  • van Buchem disease, type 2 OMIM:607636
OMIM
603506
Clinvar variants
Variants in LRP5
Penetrance
None
Panels with this gene

History Filter Activity

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal OMIM:144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636

15 Mar 2021, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: LRP5 were changed from Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636 to Osteopetrosis, autosomal dominant 1 OMIM:607634; Osteosclerosis OMIM:144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] OMIM:601884; van Buchem disease, type 2 OMIM:607636

20 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Catherine Snow (Genomics England)

gene: LRP5 was added gene: LRP5 was added to Osteopetrosis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant 1 607634; Osteosclerosis 144750; Hyperostosis, endosteal 144750; [Bone mineral density variability 1] 601884; van Buchem disease, type 2 607636