Skeletal dysplasia
Gene: PLS3
OI and decreasing bone density gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.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
Bone mineral density QTL18, osteoporosis 300910
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PLS3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Tier 3Created: 17 Jun 2016, 8:07 a.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
Bone mineral density QTL18, osteoporosis 300910
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Bone mineral density QTL18, osteoporosis 300910 for gene: PLS3
Source NHS GMS was added to PLS3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for PLS3 were set to Bone mineral density QTL18, osteoporosis 300910
PLS3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review PLS3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
PLS3 was created by sleigh
PLS3 was added to Unexplained skeletal dysplasiapanel. Sources: