CLCN3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Early onset or syndromic epilepsy

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Fetal anomalies

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Intellectual disability

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with hypotonia and brain abnormalities

  0.79

• neurodevelopmental disorder with seizures and brain abnormalities

  0.67

• Neurodevelopmental delay

  0.51

• schizophrenia

  0.40

• complex neurodevelopmental disorder

  0.40

• hereditary disease

  0.34

• Parkinson disease

  0.31

• lymphoid leukemia

  0.31

• Juvenile Osteochondrosis

  0.30

• placental retention

  0.29

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

Protein function (UniProt)