PARD3

The encoded protein is an adapter protein that regulates asymmetrical cell division, cell polarization, and epithelial tight junction formation, and is required for establishment of neuronal polarity and normal axon formation. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset typically in infancy or early childhood. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to be pathogenic.