Four of the genes identified (GPC3, PTCH1, SOX6, TRAF7) are now amber or red-listed in PanelApp, and pathogenic variants in ARID1B, CDK13, FBXO11 and HNRNPK have also been associated with CRS in a small number of cases (Table S5). The gene discussed is PTCH1; the disease is congenital rubella syndrome.