CNOT2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intellectual disability

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

• intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies

  0.63

• hereditary disease

  0.41

• neurodegenerative disease

  0.40

• neurodevelopmental disorder with hypotonia and seizures

  0.37

• ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder

  0.30

• ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder

  0.30

• rheumatic heart disease

  0.29

• neurodevelopmental disorder

  0.27

• placental abruption

  0.26

• hypertensive disorder

  0.25

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

Protein function (UniProt)