USF3

This gene encodes a transcriptional regulator containing a helix-loop-helix domain that negatively regulates epithelial-mesenchymal transition, the process by which epithelial cells lose polarity and become migratory mesenchymal cells. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, following an autosomal dominant inheritance pattern. The gene is highly constrained against loss-of-function variants in the population, indicating that such variants are likely to be pathogenic.