Osteogenesis imperfecta
Gene: LRP5
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.
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
Comment when marking as ready: Two green reviews agree green geneCreated: 10 May 2016, 1:08 p.m.
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
Source NHS GMS was added to LRP5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for LRP5 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
LRP5 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory
LRP5 was added to Osteogenesis Imperfecta panel. Sources: Expert