And exactly these cases not featuring a syndromic phenotype carried a heterozygous disease-causing variant in PAX2 (papillorenal syndrome, MIM #120330) and a heterozygous 1.2 Mb deletion on Chr17q12 encompassing HNF1B as the only disease-associated gene (17q12 deletion syndrome, MIM #614527). This evidence concerns the gene PAX2 and renal coloboma syndrome.