PLS3

plastin 3
OMIM: 300131, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PLS3 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.38
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review 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
    • Expert Review
    Phenotypes
    • Bone mineral density QTL18, osteoporosis 300910
    Green PLS3 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.169
    Latest signed off version: v6.0 (30 Apr 2025)

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Diaphragmatic hernia 5, X-linked, OMIM:306950
    Green PLS3 in Osteogenesis imperfecta


    Level 2: Musculoskeletal
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    review 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
    • Expert Review
    Phenotypes
    • X-linked osteoporosis and fractures
    • X-linked osteoporosis and fractures
    • X-linked Osteoporosis
    Green PLS3 in DDG2P


    Version 6.438
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PLS3-related diaphragmatic hernia and body-wall defects
    • PLS3-related osteoporosis with fractures, OMIM:300910