KIF5A

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Adult onset neurodegenerative disorder

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Amyotrophic lateral sclerosis/motor neuron disease

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Hereditary neuropathy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• hereditary spastic paraplegia 10

  0.80

• Autosomal dominant spastic paraplegia type 10

  0.77

• amyotrophic lateral sclerosis

  0.71

• myoclonus, intractable, neonatal

  0.67

• hereditary spastic paraplegia

  0.58

• Spastic paraplegia

  0.56

• inherited neurodegenerative disorder

  0.40

• Intellectual disability

  0.40

• autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

  0.37

• demyelinating polyneuropathy

  0.37

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

Protein function (UniProt)