Osteogenesis imperfecta
Gene: PLS3
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: PLS3; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked Osteoporosis
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked osteoporosis and fractures
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Gene added by a reviewer who reports variants within this gene, with an additional reviewer agreeing this should be green.Created: 12 May 2016, 1:46 p.m.
https://oi.gene.le.ac.uk/home.php?select_db=PLS3Created: 8 Dec 2015, noon
Source NHS GMS was added to PLS3. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for PLS3 were set to X-linked osteoporosis and fractures; X-linked osteoporosis and fractures; X-linked Osteoporosis
Publications for PLS3 were set to PMID: 24088043; 24616189
This gene has been classified as Green List (High Evidence).
PLS3 was added to Osteogenesis Imperfecta panel. Sources: Expert Review