TNXB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Bleeding and platelet disorders

  BIALLELIC, autosomal or pseudoautosomal

• Ehlers Danlos syndrome with a likely monogenic cause

  BIALLELIC, autosomal or pseudoautosomal

• CAKUT

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Osteogenesis imperfecta

• Skeletal dysplasia

• Thoracic aortic aneurysm or dissection

  BIALLELIC, autosomal or pseudoautosomal

• Thoracic aortic aneurysm or dissection (GMS)

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Ehlers-Danlos syndrome due to tenascin-X deficiency

  0.79

• vesicoureteral reflux 8

  0.70

• Abnormality of the cardiovascular system

  0.55

• Ehlers-Danlos syndrome

  0.52

• hereditary disease

  0.39

• familial vesicoureteral reflux

  0.37

• Ehlers-Danlos syndrome, hypermobility type

  0.27

• Joint hypermobility

  0.27

• Cyanosis

  0.15

• Abnormal pattern of respiration

  0.15

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

Protein function (UniProt)