Osteogenesis Imperfecta and Osteoporosis

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)

Established gene disease association. Osteoporosis-pseudoglioma syndrome is a juvenile onset disease characterised by severe osteoporosis and visual disturbance from childhood. >3 unrelated individuals reported with skeletal features concordant with osteoporosis.
Created: 4 Dec 2024, 4:47 a.m. | Last Modified: 4 Dec 2024, 4:47 a.m.
Panel Version: 0.115

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
osteoporosis-pseudoglioma syndrome MONDO:0009820

Publications

History Filter Activity

8 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lrp5 has been classified as Green List (High Evidence).

8 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LRP5 were changed from to osteoporosis-pseudoglioma syndrome MONDO:0009820

8 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LRP5 were set to

8 Dec 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LRP5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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