Retinal disordersGene: PAX6
PAX6 is kept as a red gene after discussion and advise from Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital): “PAX6 is a developmental eye disease gene - this can manifest as foveal hypoplasia, which while not a retinal dystrophy, PAX6 may only be apparent in the posterior segment in some cases. Perhaps best left off the retina panel.”
Created: 30 Aug 2019, 2:43 p.m. | Last Modified: 30 Aug 2019, 2:43 p.m.
Panel Version: 1.159
Source NHS GMS was added to PAX6.
Phenotypes for gene PAX6 were set to Foveal Hypoplasia and Presenile Cataract Syndrome; Developmental macular and foveal dystrophy (foveal hypoplasia in the context of aniridia)
PAX6 was added to Posterior segment abnormalitiespanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
PAX6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
PAX6 was created by ellenmcdonagh