STXBP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Mitochondrial disorders

Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 4

  0.85

• early-infantile DEE

  0.73

• genetic developmental and epileptic encephalopathy

  0.65

• Intellectual disability

  0.60

• hereditary disease

  0.55

• developmental and epileptic encephalopathy

  0.54

• infantile epilepsy syndrome

  0.54

• Epileptic encephalopathy

  0.53

• Seizure

  0.50

• Global developmental delay

  0.47

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

Protein function (UniProt)