SPG7

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

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

• Adult onset neurodegenerative disorder

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

• Ataxia and cerebellar anomalies - narrow panel

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

• Childhood onset hereditary spastic paraplegia

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

• Hereditary ataxia

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

• Hereditary ataxia with onset in adulthood

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

• Hereditary neuropathy or pain disorder

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

• Hereditary spastic paraplegia

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

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Disease associations (Open Targets)

• Autosomal recessive spastic paraplegia type 7

  0.84

• hereditary spastic paraplegia 7

  0.81

• hereditary spastic paraplegia

  0.59

• hereditary disease

  0.53

• Spastic paraplegia

  0.52

• mitochondrial disease

  0.51

• spastic ataxia

  0.50

• hereditary ataxia

  0.50

• Retinal dystrophy

  0.49

• Gait ataxia

  0.46

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

Protein function (UniProt)