Corneal abnormalities
Gene: PAX6Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel. This gene causes predominantly aniridia or Peters anomaly.Created: 3 Mar 2017, 9:47 a.m.
Comment on list classification: Discussed with Chris Campbell and Manchester GDL and corneal abnormalities seems to be a secondary feature - would present initially with aniridia.Created: 22 Feb 2017, 10:04 a.m.
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Red List (Low Evidence).
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; Anterior segment dysgenesis 5, multiple subtypes 604229
Publications for PAX6 were set to 3234463;4395516;2855731
Mode of pathogenicity for PAX6 was changed to Other - please provide details in the comments
Mode of inheritance for PAX6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
PAX6 was added to Corneal abnormalitiespanel. Sources: Emory Genetics Laboratory
PAX6 was added to Corneal abnormalitiespanel. Sources: Radboud University Medical Center, Nijmegen