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 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

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