Three of these had been flagged as diagnostic variants in GEL (in the ‘exit questionnaire’ table) prior to starting this work: two 5′UTR splicing variants in PAX6 in two individuals with aniridia (OMIM:617141) and one 5′UTR splicing variant in RPL26 in an individual with a previously undiagnosed monogenic disorder. This evidence concerns the gene RPL26 and aniridia.