As of the preparation of this manuscript, TXNDC15‐related MKS have only been reported in five independent families, including the first report supporting TXNDC15 as a novel causative gene of MKS (Radhakrishnan et al., 2019; Ridnõi et al., 2019; Shaheen et al., 2016). The gene discussed is TXNDC15; the disease is Meckel syndrome, type 1.