TCAP

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Dilated Cardiomyopathy and conduction defects

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

  BIALLELIC, autosomal or pseudoautosomal

• Congenital muscular dystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Dilated and arrhythmogenic cardiomyopathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Arthrogryposis

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

• Hypertrophic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• hypertrophic cardiomyopathy 25

  0.75

• autosomal recessive limb-girdle muscular dystrophy type 2G

  0.74

• familial hypertrophic cardiomyopathy

  0.55

• Abnormality of the cardiovascular system

  0.53

• autosomal recessive limb-girdle muscular dystrophy

  0.46

• Abnormality of the musculature

  0.44

• limb-girdle muscular dystrophy

  0.39

• familial isolated dilated cardiomyopathy

  0.39

• dilated cardiomyopathy

  0.35

• Elevated circulating creatine kinase concentration

  0.35

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

Protein function (UniProt)