NF1

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

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial rhabdomyosarcoma

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial Tumours Syndromes of the central & peripheral Nervous system

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• neurofibromatosis type 1

  0.89

• neurofibromatosis-Noonan syndrome

  0.84

• neurofibromatosis

  0.82

• juvenile myelomonocytic leukemia

  0.77

• Watson syndrome

  0.76

• neurofibromatosis, familial spinal

  0.73

• malignant peripheral nerve sheath tumor

  0.69

• Neurofibromatosis type 1 due to NF1mutation or intragenic deletion

  0.68

• Tibial pseudarthrosis

  0.67

• neurocutaneous syndrome

  0.66

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

Protein function (UniProt)

Diseases associated with NF1

Curated MONDO disease pages that list NF1 among their top associated genes.

• melanomaRare
• urinary bladder carcinomaRare
• respiratory system disorderRare