Osteogenesis imperfecta
Gene: LRP5EnsemblGeneIds (GRCh38): ENSG00000162337
EnsemblGeneIds (GRCh37): ENSG00000162337
OMIM: 603506, Gene2Phenotype
LRP5 is in 14 panels
6 reviews
Duncan Baker (Sheffield Genetics)
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: LRP5; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Raymond Dalgleish (University of Leicester)
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hypophosphatasia
Variants in this GENE are reported as part of current diagnostic practice
Chris Boustred (Genomics England)
Comment when marking as ready: Two green reviews agree green geneCreated: 10 May 2016, 1:08 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
OPPG Syndrome/ heterozygous mutations causes IJOCreated: 27 Nov 2015, 3:03 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Expert
- Phenotypes
-
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- OMIM
- 603506
- Clinvar variants
- Variants in LRP5
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Short QT syndrome
- Osteopetrosis
- Ductal plate malformation
- DDG2P
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Polycystic liver disease
- Osteogenesis imperfecta
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Mode of Inheritance
Chris Boustred (Genomics England)Mode of inheritance for LRP5 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)LRP5 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)LRP5 was added to Osteogenesis Imperfecta panel. Sources: Expert