However, WES does not cover intronic sequences which may harbor deleterious mutations, it does not allow easy detection of CNV, transversions, translocations, gene conversions (such as that frequently seen in CYP21A2 in CAH), or gene fusions (seen between CYP11B1/B2) and it cannot predict the functional consequence of novel variant(s). The gene discussed is CYP11B1; the disease is congenital adrenal hyperplasia.