CDKL5

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)

• Fetal anomalies

  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)

• Clefting

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 2

  0.85

• CDKL5 disorder

  0.72

• Angelman syndrome

  0.68

• atypical Rett syndrome

  0.65

• X-linked retinoschisis

  0.59

• infantile spasms

  0.58

• Retinal dystrophy

  0.57

• hereditary disease

  0.55

• Rett syndrome

  0.55

• Epileptic encephalopathy

  0.51

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

Protein function (UniProt)