| Panel | Mode of inheritance | Details |
|---|---|---|
2 panels | ||
Green in Retinal disordersR-numbers: R32 Signed-off version 6.16 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Persistent hyperplastic primary vitreous, autosomal recessive, 221900, multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes AR Persistent hyperplasia of primary vitreous - optic nerve dysplasia, retinal detachment, Persistent hyperplastic primary vitreous, autosomal recessive (can include microphthalmia), 221900 |