UPK3A and Bardet-Biedl syndrome: These included a homozygous splicing variant in TTC8/BBS8 for Bardet–Biedl syndrome (Fam10-1), a heterozygous missense variant in STK11 for Peutz–Jeghers syndrome (Fam22-1), a homozygous missense variant in GAMT for guanidinoacetate methyltransferase deficiency disease (Fam24), and two compound heterozygous variants in UPK3A for congenital nephrotic syndrome (Fam21).