CRTAP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Osteogenesis imperfecta

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

Disease associations (Open Targets)

• osteogenesis imperfecta type 7

  0.70

• osteogenesis imperfecta

  0.52

• Cole-Carpenter syndrome

  0.38

• osteogenesis imperfecta type 3

  0.38

• osteogenesis imperfecta type 4

  0.38

• osteogenesis imperfecta type 2

  0.37

• osteogenesis imperfecta, recessive

  0.37

• skeletal dysplasia

  0.37

• hereditary disease

  0.19

• ovarian neoplasm

  0.19

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

Protein function (UniProt)