PRG4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• camptodactyly-arthropathy-coxa vara-pericarditis syndrome

  0.76

• hereditary disease

  0.47

• Abnormality of the skeletal system

  0.30

• secondary malignant neoplasm

  0.22

• fetal akinesia deformation sequence 1

  0.12

• arthrogryposis multiplex congenita

  0.12

• hepatocellular carcinoma

  0.11

• spondylolisthesis

  0.10

• rheumatoid arthritis

  0.10

• neoplasm

  0.09

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