Genomics England

PAX6

paired box 6

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Albinism or congenital nystagmus R-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
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Aniridia, Cerebellar Ataxia, And Mental Retardation
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 6.0	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 DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	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 anomalies R-numbers: R21, R412 Signed-off version 5.0	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 diabetes R-numbers: R141 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Aniridia 106210, diabetes
Green in Sporadic aniridia R-numbers: R38 Signed-off version 3.2	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Aniridia, OMIM:106210
Green in Structural eye disease R-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