Glaucoma (developmental)
Gene: PAX6
Glaucoma is a feature: the panel descriptor even specifically recommends prior testing of this gene.Created: 2 Aug 2020, 8:55 a.m. | Last Modified: 2 Aug 2020, 8:55 a.m.
Panel Version: 1.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229
DB Many cases published with aniridia, also quite a few with anophthalmia/microphthalmia. Missense variants have been reportedCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anophthalmia; Gillespie syndrome, 206700; Cataract with late-onset corneal dystrohpy, 106210; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Peters anomaly, 604229; Coloboma of optic nerve, 120430; Aniridia 106210; Foveal hypoplasia 1, 136520; Keratitis, 148190; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200
Publications
Mode of pathogenicity
Other - please provide details in the comments
Comment on list classification: Promoted from Red to Green. There is enough evidence to support a gene-disease association. This gene has been given a Green rating.Created: 16 Apr 2021, 2:07 p.m. | Last Modified: 16 Apr 2021, 2:07 p.m.
Panel Version: 1.31
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Many cases published with aniridia, also quite a few with anophthalmia/microphthalmia. Missense variants have been reportedCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Anophthalmia; Gillespie syndrome, 206700; Cataract with late-onset corneal dystrohpy, 106210; ?Morning glory disc anomaly, 120430; Aniridia, 106210; Peters anomaly, 604229; Coloboma of optic nerve, 120430; Aniridia 106210; Foveal hypoplasia 1, 136520; Keratitis, 148190; Optic nerve hypoplasia, 165550; Coloboma, ocular, 120200
Publications
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: PAX6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: pax6 has been classified as Green List (High Evidence).
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
PAX6 was added to Glaucoma (developmental)panel. Sources: Eligibility statement prior genetic testing
PAX6 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory
PAX6 was added to Glaucoma (developmental)panel. Sources: Eligibility Statements for GeL