SPTAN1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Adult onset hereditary spastic paraplegia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Ataxia and cerebellar anomalies - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood onset hereditary spastic paraplegia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary ataxia with onset in adulthood

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Hereditary neuropathy or pain disorder

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 5

  0.75

• developmental delay with or without epilepsy

  0.68

• spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia

  0.68

• infantile spasms

  0.65

• genetic developmental and epileptic encephalopathy

  0.65

• neuronopathy, distal hereditary motor, autosomal dominant 11

  0.62

• early-infantile DEE

  0.56

• hereditary disease

  0.53

• hereditary spastic paraplegia

  0.44

• self-limited epilepsy with centrotemporal spikes

  0.42

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

Protein function (UniProt)