SPTBN2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Cerebellar hypoplasia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• DDG2P

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Adult onset neurodegenerative disorder

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• spinocerebellar ataxia type 5

  0.80

• autosomal recessive spinocerebellar ataxia 14

  0.76

• Spectrin-associated autosomal recessive cerebellar ataxia

  0.70

• hereditary disease

  0.51

• cerebellar ataxia

  0.44

• spinocerebellar ataxia type 14

  0.39

• Intellectual disability

  0.26

• stroke disorder

  0.13

• alcohol drinking

  0.13

• hereditary ataxia

  0.12

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

Protein function (UniProt)

Diseases associated with SPTBN2

Curated MONDO disease pages that list SPTBN2 among their top associated genes.

• early-onset autosomal dominant Alzheimer diseaseRare