Bilateral congenital or childhood onset cataracts
Gene: PAX6
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Morning glory disc anomaly, 120430Aniridia, 106210Cataract with late-onset corneal dystrohpy, 106210Coloboma of optic nerve, 120430Coloboma, ocular, 120200Foveal hypoplasia 1, 136520Gillespie syndrome, 206700Keratitis, 148190Optic nerve hypoplasia, 165550Peters 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
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for aniridia (with phenotypes including cataracts). Associated with Cataract with late-onset corneal dystrophy in OMIM.
Created: 25 Apr 2016, 8:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Phenotypes for PAX6 were set to ?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
PAX6 was added to Cataractspanel. Sources: UKGTN
PAX6 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services
PAX6 was added to Cataractspanel. Sources: Emory Genetics Laboratory
PAX6 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen