CNTNAP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Arthrogryposis

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy

  BIALLELIC, autosomal or pseudoautosomal

• Hereditary neuropathy or pain disorder

  BIALLELIC, autosomal or pseudoautosomal

• Inherited white matter disorders

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

+1 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

• Hypomyelination neuropathy - arthrogryposis

  0.83

• neuropathy

  0.78

• lethal congenital contracture syndrome

  0.62

• arthrogryposis multiplex congenita

  0.41

• fetal akinesia deformation sequence 1

  0.41

• hypomyelination neuropathy-arthrogryposis syndrome

  0.37

• hereditary disease

  0.34

• digitotalar dysmorphism

  0.34

• Charcot-Marie-Tooth disease type 4E

  0.13

• Unverricht-Lundborg disease

  0.11

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

Protein function (UniProt)