PIDD1

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

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Malformations of cortical development

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly

  0.76

• Intellectual disability

  0.60

• lissencephaly spectrum disorders

  0.51

• Lissencephaly

  0.51

• Pachygyria

  0.51

• Seizure

  0.50

• autism

  0.46

• Global developmental delay

  0.46

• Abnormal corpus callosum morphology

  0.46

• Atypical behavior

  0.46

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