CDK8

This gene encodes a cyclin-dependent kinase that is a component of the Mediator complex, which regulates transcription by serving as a bridge between gene-specific regulatory proteins and RNA polymerase II transcription machinery. Mutations cause intellectual developmental disorder with hypotonia and behavioral abnormalities with autosomal dominant inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.418), indicating that such variants are likely to be pathogenic.