Skeletal Dysplasia_Fetal

Gene: PLS3

Green List (high evidence)

PLS3 (plastin 3)
EnsemblGeneIds (GRCh38): ENSG00000102024
EnsemblGeneIds (GRCh37): ENSG00000102024
OMIM: 300131, Gene2Phenotype
PLS3 is in 8 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

First reported in 2013 (PMID 24088043). Associated with childhood-onset primary osteoporosis with presentations of varying severity with a phenotype similar to osteogenesis imperfecta.

No published reports of antenatal diagnosis.
Sources: Expert list, Literature
Created: 2 Dec 2021, 1:43 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 - MIM#300910

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Literature
  • Expert list
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
OMIM
300131
Clinvar variants
Variants in PLS3
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PLS3 was added gene: PLS3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PLS3 was set to Unknown