The TES analysis of the 21 previously reported ciliopathy genes associated with BBS (Supplementary Table S3) resulted in the identification of a novel synonymous variant c.534A > G; p.(Q178Q) in ARL6 in family F01, and a novel 11 bp deletion c.734_744del; p.(E245Gfs*18) in BBS5 in families F02 and F03 (Fig. 2). The gene discussed is ARL6; the disease is ciliopathy.