Mutations detected by the tubulopathy gene panel include: a heterozygotic variant c.1639 C > T of the TRPM6 gene, two hypophosphatemic rickets (deletion of Xpter and duplication of Wpter which includes both the SHOX and PHEX genes), one Fanconi syndrome (heterogenetic mutation of the EHHADH gene) and one Gitelman syndrome (heterozygotic mutations in SLC12A3 gene). The gene discussed is SHOX; the disease is Gitelman syndrome.