CDC42BPB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Early onset or syndromic epilepsy

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• Chilton-Okur-Chung neurodevelopmental syndrome

  0.78

• neurodegenerative disease

  0.46

• hereditary disease

  0.42

• neurodevelopmental disorder

  0.31

• autism spectrum disorder

  0.30

• brain cancer

  0.22

• nervous system cancer

  0.22

• placenta praevia

  0.18

• Parkinson disease

  0.14

• peripheral nervous system disorder

  0.13

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

Protein function (UniProt)