TBX4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Childhood interstitial lung disease

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb disorders

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Pulmonary arterial hypertension

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Skeletal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• coxopodopatellar syndrome

  0.79

• autosomal recessive amelia

  0.63

• pulmonary hypertension, primary, 1

  0.53

• pulmonary arterial hypertension

  0.50

• osteoarthritis, hip

  0.44

• heritable pulmonary arterial hypertension

  0.38

• Pulmonary arterial hypertension associated with congenital heart disease

  0.37

• Tetraamelia - multiple malformations

  0.37

• tetraamelia-multiple malformations syndrome

  0.37

• Pulmonary hypoplasia

  0.34

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

Protein function (UniProt)