Importantly, in both TRIO-ES and TRIO-GS, we did not identify causative variants in 100 cystic kidney disease genes including PKHD1 or DZIP1L. Allele-specific PCR confirmed the variant was homozygous in the affected child and heterozygous in the parents (Supplementary Fig. S3). The gene discussed is TRIO; the disease is cystic kidney disease.