GSN

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

• Corneal abnormalities

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Corneal dystrophy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary systemic amyloidosis

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Periodic fever syndromes

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Paediatric or syndromic cardiomyopathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• Finnish type amyloidosis

  0.80

• Familial amyloidosis, Finnish type

  0.77

• AL amyloidosis

  0.46

• cardiomyopathy

  0.42

• cutis laxa

  0.42

• cranial nerve neuropathy

  0.42

• peripheral neuropathy

  0.42

• hereditary disease

  0.42

• cardiac arrhythmia

  0.42

• Arrhythmia

  0.42

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

Protein function (UniProt)