Osteopetrosis
Gene: LRP5

LRP5 (LDL receptor related protein 5)
EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 37659026 - A242T mutation (singleton in gnomAD v4.1)
Imaging and investigations showed evidence of osteopetrosis.

PMID: 26348019 the same missense variant has been reported in two other unrelated families with affected individuals presenting with osteopetrosis.

PMID: 12054167; 12579474
Rare missense (T253I) in LRP5 identified in two unrelated Danish families with a diagnosis of AD osteopetrosis
Created: 2 Dec 2024, 4:23 a.m. | Last Modified: 2 Dec 2024, 4:23 a.m.

Panel Version: 0.34

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
autosomal dominant osteopetrosis 1 MONDO:0011877

Publications

Created: 2 Dec 2024, 4:23 a.m.
Last Modified: 2 Dec 2024, 4:23 a.m.
Panel version: 0.34

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green

OMIM

603506

Clinvar variants

Variants in LRP5

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LRP5 was added gene: LRP5 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: LRP5 was set to Unknown

Osteopetrosis Gene: LRP5