Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R31 Signed-off version 5.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Congenital cataract, corneal opacity, developmental glaucoma, corneal opacification associated with other ocular anomalies (COPA) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Corneal opacification and other ocular anomalies, 269400 |