Skeletal dysplasia
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 (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Exudative vitreoretinopathy 4 601813
- Osteoporosis-pseudoglioma syndrome 259770
- [Bone mineral density variability 1] 601884
- {Osteoporosis} 166710
- van Buchem disease, type 2 607636
- Osteopetrosis, autosomal dominant 1 607634
- Hyperostosis, endosteal 144750
- Osteosclerosis 144750
- 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
- Skeletal Dysplasia_Fetal
- Polycystic liver disease
- Macrocephaly_Megalencephaly
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Renal Macrocystic Disease
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Vitreoretinopathy
- Syndromic Retinopathy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LRP5 was added gene: LRP5 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert,Expert Review Green Mode of inheritance for gene: LRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: LRP5 were set to Exudative vitreoretinopathy 4 601813; Osteoporosis-pseudoglioma syndrome 259770; [Bone mineral density variability 1] 601884; {Osteoporosis} 166710; van Buchem disease, type 2 607636; Osteopetrosis, autosomal dominant 1 607634; Hyperostosis, endosteal 144750; Osteosclerosis 144750