PCDH19

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Early onset or syndromic epilepsy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Intellectual disability

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Fetal anomalies

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 9

  0.85

• hereditary disease

  0.55

• Seizure

  0.54

• X-linked intellectual disability - epilepsy

  0.48

• Bilateral tonic-clonic seizure

  0.44

• glycine encephalopathy

  0.40

• Dravet syndrome

  0.39

• encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy

  0.38

• early-infantile DEE

  0.37

• X-linked complex neurodevelopmental disorder

  0.37

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

Protein function (UniProt)