Osteogenesis imperfecta
Gene: PLS3EnsemblGeneIds (GRCh38): ENSG00000102024
EnsemblGeneIds (GRCh37): ENSG00000102024
OMIM: 300131, Gene2Phenotype
PLS3 is in 4 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: PLS3; Suggested initial gene rating: greenCreated: 3 Apr 2019, 4:08 p.m.
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
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
Ellen McDonagh (Genomics England Curator)
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.
Raymond Dalgleish (University of Leicester)
https://oi.gene.le.ac.uk/home.php?select_db=PLS3Created: 8 Dec 2015, noon
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- X-linked osteoporosis and fractures
- X-linked osteoporosis and fractures
- X-linked Osteoporosis
- OMIM
- 300131
- Clinvar variants
- Variants in PLS3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PLS3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PLS3 were set to X-linked osteoporosis and fractures; X-linked osteoporosis and fractures; X-linked Osteoporosis
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PLS3 were set to PMID: 24088043; 24616189
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)PLS3 was added to Osteogenesis Imperfecta panel. Sources: Expert Review