Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review of EXOC3L2 on the CAKUT gene panel, and on advice from Helen Brittain (Genomics England Clinical Team).
Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red: Currently only a candidate ciliopathy gene (PMID:27894351). Further cases and functional evidence required for inclusion on panel.
Rebecca Foulger Phenotypes for gene: EXOC3L2 were changed from to anhydramnios; echogenic kidneys; hydrocephalus; Dandy-Walker malformation; enlarged echogenic kidneys