TTR

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary systemic amyloidosis

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hyperthyroidism

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hypertrophic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• amyloidosis, hereditary systemic 1

  0.85

• cardiomyopathy

  0.73

• familial amyloid neuropathy

  0.73

• carpal tunnel syndrome 1

  0.72

• amyloidosis

  0.71

• hereditary amyloidosis

  0.69

• AL amyloidosis

  0.64

• Familial transthyretin-related amyloidosis

  0.59

• polyneuropathy

  0.58

• cardiac amyloidosis

  0.57

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

Protein function (UniProt)

Diseases associated with TTR

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

• cardiomyopathyRare