Variants in IQCB1 (IQ calmodulin-binding motif-containing protein-1) are known to historically cause Senior-Loken syndrome (SLSN) in humans, a rare autosomal recessive disease characterized by both nephronophthisis (NPHP) and retinal degeneration51, 52. This evidence concerns the gene IQCB1 and Senior-Loken syndrome.