NF2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult solid tumours for rare disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Bilateral congenital or childhood onset cataracts

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial tumours of the nervous system

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial Tumours Syndromes of the central & peripheral Nervous system

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Mosaic skin disorders - deep sequencing

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• NF2-related schwannomatosis

  0.85

• schwannomatosis

  0.68

• SMARCB1-related schwannomatosis

  0.65

• familial meningioma

  0.63

• acoustic neuroma

  0.62

• pleural mesothelioma

  0.61

• hereditary neoplastic syndrome

  0.57

• Inherited cancer-predisposing syndrome

  0.57

• neurofibromatosis

  0.54

• meningioma

  0.50

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

Protein function (UniProt)