TMEM231 and Meckel syndrome, type 1: Only 15 TMEM231-associated MKS cases were reported, and 16 variants (8 splice sites, 7 missense and 1 small deletion) were considered as causative mutations (Supplementary Table S1) (Roberson et al., 2015; Maglic et al., 2016; Li et al., 2020; Watson et al., 2020).