PAX6

PanelMode of inheritanceDetails
9 panels
R-numbers: R39
Signed-off version 1.2
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 Aniridia
R-numbers: R38
Signed-off version 2.5
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia 106210
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aniridia, Cerebellar Ataxia, And Mental Retardation
Green
in Cataracts
R-numbers: R31
Signed-off version 2.2
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 2.2
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
R-numbers: R21
Signed-off version 1.92
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Aniridia, Cerebellar Ataxia, And Mental Retardation, Aniridia, 106210Peters anomaly, 604229Cataract with late-onset corneal dystrophy, 106210Keratitis, 148190Foveal hyperplasia, 136520Morning glory disc anomaly, 120430Optic nerve hypoplasia, 165550Coloboma, ocular, 120200Coloboma of optic nerve, 120430Gillespie syndrome, 206700, KERATITIS HEREDITARY (KERH)
R-numbers: R141
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Aniridia 106210, diabetes
R-numbers: R36
Signed-off version 1.3
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