Of these four variants, 2 were discarded since within genes already reported to be responsible for phenotypically divergent recessive diseases: KANK2, implicated in palmoplantar keratoderma and woolly hair (MIM 616099) and CHRNG, implicated in multiple pterygium syndrome (MIM 253290). The gene discussed is CHRNG; the disease is Palmoplantar keratoderma.