NR2C2

This gene encodes an orphan nuclear receptor that functions as a ligand-independent transcription factor, regulating gene expression during early embryonic development, spermatogenesis, and cerebellum development by binding to hormone response elements and modulating various nuclear receptor signaling pathways. Mutations cause autosomal dominant neurodevelopmental disorders with cerebellar involvement and intellectual disability. The gene is highly constrained against loss-of-function variation in the population, indicating that such mutations are likely to be pathogenic.