BGN

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Ehlers Danlos syndrome with a likely monogenic cause

  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, biallelic mutations in females

• Skeletal dysplasia

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Thoracic aortic aneurysm or dissection

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

• Thoracic aortic aneurysm or dissection (GMS)

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

• Intellectual disability

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

• X-linked spondyloepimetaphyseal dysplasia

  0.75

• Meester-Loeys syndrome

  0.67

• familial thoracic aortic aneurysm and aortic dissection

  0.63

• Rare disease with thoracic aortic aneurysm and aortic dissection

  0.45

• spondyloepimetaphyseal dysplasia, matrilin-3 type

  0.38

• spondyloepimetaphyseal dysplasia

  0.37

• Familial hemophagocytic lymphohistiocytosis

  0.27

• Abnormality of the cardiovascular system

  0.19

• alopecia

  0.19

• neoplasm

  0.12

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

Protein function (UniProt)