FGF13

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)

Disease associations (Open Targets)

• developmental and epileptic encephalopathy, 90

  0.72

• atrial fibrillation

  0.43

• developmental and epileptic encephalopathy

  0.42

• Intellectual disability

  0.42

• neurodevelopmental disorder

  0.40

• generalized epilepsy with febrile seizures plus

  0.38

• Generalized epilepsy with febrile seizures-plus

  0.38

• neurodegenerative disease

  0.21

• hereditary disease

  0.18

• intellectual developmental disorder, X-linked 110

  0.13

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

Protein function (UniProt)