RIPPLY2

This gene encodes a nuclear protein that functions as a transcriptional repressor required for somite segregation and establishment of rostrocaudal polarity during somitogenesis. Mutations cause spondylocostal dysostosis 6, a congenital disorder characterized by vertebral segmentation defects and rib abnormalities, inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants (pLI 0.009, LOEUF 1.26), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.