ZNF142

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with impaired speech and hyperkinetic movements

  0.73

• syndromic intellectual disability

  0.55

• Intellectual disability

  0.55

• Seizure

  0.55

• neurodegenerative disease

  0.54

• hereditary disease

  0.51

• Global developmental delay

  0.46

• Dystonia

  0.46

• Tremor

  0.46

• neurodevelopmental disorder

  0.37

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

Protein function (UniProt)