Syndromic Retinopathy
Gene: LRP5EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 17 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Variants in this gene are associated with multiple disorders.Created: 20 May 2022, 12:41 a.m. | Last Modified: 20 May 2022, 12:41 a.m.
Panel Version: 0.14662
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Exudative vitreoretinopathy 4 - MIM#601813 (AD, AR); Hyperostosis, endosteal - MIM#144750 (AD); Osteopetrosis, autosomal dominant 1 - MIM#607634(AD); Osteoporosis-pseudoglioma syndrome - MIM#259770 (AR); Osteosclerosis - #144750 (AD); Polycystic liver disease 4 with or without kidney cysts - MIM#617875 (AD); van Buchem disease, type 2 - MIM#607636
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- RetNet
- Expert Review Green
- Phenotypes
-
- Exudative vitreoretinopathy 4
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: LRP5 was added gene: LRP5 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4