Patient 44 (see online supplementary table 2) presented with congenital nephrotic syndrome (CNS) and had a maternally inherited truncating deletion of NPHS1 exons 23–29 together with a paternally inherited previously-reported nonsense variant c.866G>A p.(Trp289*).33 Patient 55 also presented with CNS and genetic testing revealed a maternally inherited frame shift deletion of NPHS2 exon 2 in combination with a paternally inherited c.1032delT variant. The gene discussed is NPHS2; the disease is familial nephrotic syndrome.