TBX20

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial non syndromic congenital heart disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hypertrophic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• atrial septal defect

  0.75

• dilated cardiomyopathy

  0.67

• atrial septal defect 1

  0.57

• Abnormality of the cardiovascular system

  0.52

• coronary artery disorder

  0.44

• atrial fibrillation

  0.43

• myocardial ischemia

  0.42

• left ventricular noncompaction

  0.41

• Brugada syndrome

  0.39

• atrial septal defect, ostium secundum type

  0.38

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

Protein function (UniProt)

Diseases associated with TBX20

Curated MONDO disease pages that list TBX20 among their top associated genes.

• dilated cardiomyopathyRare