Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in Albinism or congenital nystagmusR-numbers: R39 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ?Coloboma of optic nerve 120430 AD, Optic nerve hypoplasia 165550 AD, Aniridia 106210 AD, Cataract with late-onset corneal dystrophy 106210 AD, ?Morning glory disc anomaly 120430 AD, Anterior segment dysgenesis 5, multiple subtypes 604229, Keratitis 148190 AD, Foveal hypoplasia 1 136520 AD, ?Coloboma, ocular 120200 AD |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation |
R-numbers: R31 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ?Morning glory disc anomaly, 120430, Aniridia, 106210, Cataract with late-onset corneal dystrohpy, 106210, Coloboma of optic nerve, 120430, Coloboma, ocular, 120200, Foveal hypoplasia 1, 136520, Gillespie syndrome, 206700, Keratitis, 148190, Optic nerve hypoplasia, 165550, Peters anomaly, 604229, Aniridia, additional ocular abnormalities that may occur later in life include glaucoma, cataract, and corneal opacification and vascularization, Optic Nerve Malformations, Foveal Hypoplasia and Presenile Cataract Syndrome |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes COLOBOMA OF OPTIC NERVE 120430, ANIRIDIA 106210, FOVEAL HYPOPLASIA 136520, BILATERAL OPTIC NERVE HYPOPLASIA 165550, KERATITIS HEREDITARY 148190, PETERS ANOMALY 604229, ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY 206700 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes COLOBOMA OF OPTIC NERVE, ANIRIDIA, BILATERAL OPTIC NERVE HYPOPLASIA, ANIRIDIA CEREBELLAR ATAXIA AND MENTAL DEFICIENCY, KERATITIS HEREDITARY, PETERS ANOMALY, FOVEAL HYPOPLASIA |
Green in Monogenic diabetesR-numbers: R141 Signed-off version 2.2 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Aniridia 106210, diabetes |
Green in Sporadic aniridiaR-numbers: R38 Signed-off version 3.2 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Aniridia, OMIM:106210 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Coloboma of optic nerve, 120430, Peters anomaly, 604229, Coloboma, ocular, 120200, Optic nerve hypoplasia, 165550, Aniridia 106210, Foveal hypoplasia 1, 136520, ?Morning glory disc anomaly, 120430, Keratitis, 148190, Anophthalmia, Cataract with late-onset corneal dystrohpy, 106210, Gillespie syndrome, 206700 |