Ivone Leong Added comment: Comment on list classification: Prmoted from amber to green. PMID: 29140751 describes a new unrelated case with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. This makes it 3 unrelated cases of patients with variants in this gene. Therefore, promoted it to green rating.
Ivone Leong Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal