Bilateral congenital or childhood onset cataracts
Gene: LRP5EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Associated with Exudative vitreoretinopathy 4Created: 14 Jun 2016, 8:27 a.m.
Phenotypes
Exudative vitreoretinopathy 4
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted to red due to expert review.Created: 14 Jun 2016, 12:39 p.m.
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for Osteoporosis-pseudoglioma syndrome (includes cataract as a phenotype). Biallelic for this disease (monoallelic for others).Created: 29 Apr 2016, 12:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Osteoporosis-pseudoglioma syndrome
- Exudative vitreoretinopathy 4
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- Complete
- Panels with this gene
-
- Short QT syndrome
- Osteopetrosis
- Ductal plate malformation
- Retinal disorders
- DDG2P
- Fetal anomalies
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Polycystic liver disease
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LRP5 were set to Osteoporosis-pseudoglioma syndrome;Exudative vitreoretinopathy 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for LRP5 were set to Osteoporosis-pseudoglioma syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for LRP5 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()LRP5 was added to Cataractspanel. Sources: UKGTN