While gains or losses in the chromosomal region 22q11.2, encompassing SLC7A4 (OMIM *603752), have been associated with CAKUT or BEEC, no single base variant in SLC7A4 has been associated with the human CAKUT or BEEC disease phenotypes so far. This evidence concerns the gene SLC7A4 and exstrophy-epispadias complex.