CLDN5

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• White matter disorders and cerebral calcification - narrow panel

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• hereditary disease

  0.41

• epilepsy

  0.38

• Intellectual disability

  0.37

• neurodevelopmental disorder

  0.34

• hypotensive disorder

  0.26

• placental retention

  0.16

• osteoarthritis, hip

  0.12

• heart disorder

  0.12

• Neurodevelopmental abnormality

  0.11

• Alzheimer disease

  0.10

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

Protein function (UniProt)