Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. After discussion with the Genomics England Clinical Team it was decided that there is currently not enough evidence to promote this gene to green. The clinical presentations reported in the papers are not classical for an ID cohort (except perhaps patient 1 in the Ashkenzi Jewish families). Therefore, this gene has been promoted to amber until further evidence emerges.