Joubert syndrome and Lowe syndrome patient cells with INPP5E and OCRL mutations, some of which have been shown to reduce PIP3 5-phosphatase activity, exhibit reduced cilia stability and assembly respectively [12,77,115], suggesting the ciliary PIP3/AKT/GSK3β axis may play a role in these diseases, but this is yet to be directly tested. This evidence concerns the gene OCRL and oculocerebrorenal syndrome.