PLXNB2

PLXNB2 encodes a transmembrane receptor that binds semaphorins and angiogenin to regulate axon guidance, neuronal cell migration during brain development, and glutamatergic synapse formation. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and brain malformations, inherited in an autosomal dominant pattern. This gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely not tolerated in the general population.