NEFL

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Hereditary neuropathy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Congenital myopathy

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Arthrogryposis

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

• Charcot-Marie-Tooth disease type 2E

  0.79

• Charcot-Marie-Tooth disease type 1F

  0.78

• Autosomal dominant Charcot-Marie-Tooth disease type 2E

  0.75

• Charcot-Marie-Tooth disease, dominant intermediate G

  0.70

• Charcot-Marie-Tooth disease

  0.64

• peripheral neuropathy

  0.49

• hereditary disease

  0.49

• autosomal dominant intermediate Charcot-Marie-Tooth disease type G

  0.47

• Charcot-Marie-Tooth disease type 2

  0.38

• Charcot-Marie-Tooth disease type 2B5

  0.37

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

Protein function (UniProt)

Diseases associated with NEFL

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

• Charcot-Marie-Tooth diseaseRare