SCRT1

This gene encodes a C2H2-type zinc finger transcriptional repressor that binds to E-box motifs and modulates basic helix-loop-helix transcription factors critical for neuronal differentiation. Mutations cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, which follows an autosomal dominant inheritance pattern. The gene shows tolerance to loss-of-function variants, suggesting the disorder may involve complex mutational mechanisms.