PLS3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Osteogenesis imperfecta

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Skeletal dysplasia

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• X-linked osteoporosis with fractures

  0.72

• congenital diaphragmatic hernia

  0.55

• osteoporosis

  0.48

• postmenopausal osteoporosis

  0.34

• hereditary disease

  0.19

• osteogenesis imperfecta

  0.19

• pyknoachondrogenesis

  0.09

• gastric cancer

  0.08

• neoplasm

  0.08

• Patent ductus arteriosus

  0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)