Interestingly, we also identified a homozygous frameshift mutation (c.1010_1011del, p.G337Afs*16, family 6) in ANKS6 (S10 Fig) in a fetus whose phenotype was similar to that of NEK8 loss of function cases, i.e. enlarged cystic kidneys associated with enlarged fibrotic pancreas, situs inversus and cardiopathy. The gene discussed is ANKS6; the disease is Renal cyst.