MAB21L2 and coloboma: To further explore the role of MAB21L2 in human coloboma phenotypes, we examined 276 patients with developmental ocular conditions from our collection as well as whole exome data from 125 cases derived from the UK10K_Rare_Coloboma (EGA Study ID: EGAS00001000127) project of the UK10K Consortium study [18,31].