CST3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset leukodystrophy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary systemic amyloidosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial cerebral small vessel disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Periodic fever syndromes

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• ACys amyloidosis

  0.65

• Hereditary cerebral hemorrhage with amyloidosis

  0.62

• Hereditary cerebral hemorrhage with amyloidosis, Icelandic type

  0.59

• AL amyloidosis

  0.48

• age-related macular degeneration

  0.47

• age related macular degeneration 11

  0.46

• leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy

  0.46

• cerebral amyloid angiopathy

  0.44

• aging

  0.43

• leukodystrophy

  0.42

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

Protein function (UniProt)