TNNT3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• distal arthrogryposis

  0.63

• Sheldon-hall syndrome

  0.52

• congenital myopathy

  0.40

• congenital myopathy with cores

  0.38

• amyotrophic lateral sclerosis

  0.37

• digitotalar dysmorphism

  0.37

• hereditary disease

  0.34

• hypertensive disorder

  0.31

• nemaline myopathy

  0.27

• breast carcinoma

  0.24

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

Protein function (UniProt)