Osteogenesis Imperfecta and Osteoporosis
Gene: LRP5EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- osteoporosis-pseudoglioma syndrome MONDO:0009820
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Osteopetrosis
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
- Polycystic liver disease
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Renal Macrocystic Disease
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Vitreoretinopathy
- Syndromic Retinopathy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lrp5 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: LRP5 were changed from to osteoporosis-pseudoglioma syndrome MONDO:0009820
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: LRP5 were set to
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
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