TNNT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Dilated and arrhythmogenic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hypertrophic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Left Ventricular Noncompaction Cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• hypertrophic cardiomyopathy

  0.83

• left ventricular noncompaction

  0.78

• hypertrophic cardiomyopathy 2

  0.74

• cardiomyopathy, familial restrictive, 3

  0.74

• familial isolated dilated cardiomyopathy

  0.68

• dilated cardiomyopathy

  0.65

• familial isolated restrictive cardiomyopathy

  0.60

• cardiomyopathy

  0.60

• Abnormality of the cardiovascular system

  0.56

• Rare familial disorder with hypertrophic cardiomyopathy

  0.56

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

Protein function (UniProt)

Diseases associated with TNNT2

Curated MONDO disease pages that list TNNT2 among their top associated genes.

• hypertrophic cardiomyopathyRare
• dilated cardiomyopathyRare
• familial isolated dilated cardiomyopathyRare