Osteogenesis Imperfecta and Osteoporosis
Gene: PLS3
Established gene disease association with affected individuals presenting with skeletal features concordant with osteoporosis. Heterozygous females are either asymptomatic or present with a milder phenotype compared to hemizygous males.Created: 4 Dec 2024, 4:53 a.m. | Last Modified: 4 Dec 2024, 4:53 a.m.
Panel Version: 0.115
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 with fractures MONDO:0018315
Publications
Gene: pls3 has been classified as Green List (High Evidence).
Phenotypes for gene: PLS3 were changed from to X-linked osteoporosis with fractures MONDO:0018315
Publications for gene: PLS3 were set to
Mode of inheritance for gene: PLS3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
gene: PLS3 was added gene: PLS3 was added to Osteogenesis imperfecta_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLS3 was set to Unknown