Mutations in mouse Tmem231 disrupted the ciliary localisation of proteins such as Arl13b and lnpp5e, resulting in the pathogenic features of MKS, and mutations in the TMEM231 gene were first reported in MKS patients in 2013 (Shaheen et al., 2013; Roberson et al., 2015). The gene discussed is TMEM231; the disease is Meckel syndrome, type 1.