Filtering for rare variants within these 100 genes identified a heterozygous plausible deleterious variant c.152G>A p.(Arg51Gln) in MAB21L1 (ENST00000379919.6:c.152G>A, ENSP00000369251.4:p.Arg51Gln: Sift; Deleterious (0), PolyPhen; Probably damaging (0.999), CADD 30, REVEL 0.542) in a single individual (Family 511: II:1, Fig 1A and 1B) with bilateral profound aniridia and microphthalmia (Table 1, Fig 1C). The gene discussed is MAB21L1; the disease is microphthalmia.