CSTB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ataxia and cerebellar anomalies - narrow panel

  BIALLELIC, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset dystonia

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary ataxia with onset in adulthood

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• Unverricht-Lundborg disease

  0.81

• Unverricht-Lundborg syndrome

  0.81

• Progressive myoclonic epilepsy

  0.56

• hereditary disease

  0.50

• Dyskinesia

  0.43

• autosomal recessive hypohidrotic ectodermal dysplasia

  0.37

• Rolandic epilepsy

  0.35

• microcephaly

  0.34

• Dystonia

  0.34

• Encephalopathy

  0.34

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

Protein function (UniProt)

Diseases associated with CSTB

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

• early-onset autosomal dominant Alzheimer diseaseRare