POLR2A codes for the protein RNA Polymerase II Subunit A (RPB1), a subunit of RNA Polymerase II responsible for forming part of the DNA-binding domain. Recent heterozygous, de novo changes are associated with a multisystem condition characterized by developmental delay, hypotonia, dysmorphic features, and increased rates of autism spectrum disorder, seizures, and other symptoms. To date, only one case of POLR2A-associated NEDHIB has been noted as inherited from a parent who reported mild learning difficulty.
POLR2A