SPG21

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset leukodystrophy

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary spastic paraplegia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

• Hereditary neuropathy or pain disorder

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• mast syndrome

  0.75

• hereditary sensory and autonomic neuropathy with spastic paraplegia

  0.50

• hereditary spastic paraplegia

  0.49

• hereditary spastic paraplegia 5A

  0.37

• Splenomegaly

  0.18

• alcohol drinking

  0.18

• retinitis pigmentosa

  0.07

• Familial exudative vitreoretinopathy

  0.07

• genetic developmental and epileptic encephalopathy

  0.07

• Cone rod dystrophy

  0.07

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

Protein function (UniProt)