Retinal disordersGene: PAX6
GEL curator acknowledge conflicting ratings, Gavin Arno comments still stands as NHS expert. Will reassess if required
Created: 25 May 2022, 9:59 a.m. | Last Modified: 25 May 2022, 9:59 a.m.
Panel Version: 2.271
Monoallelic PAX6 variants are typically associated with aniridia and anterior segment abnormalities with foveal hypoplasia being part of the clinical spectrum. However, monoallelic missense variants in PAX6 are reported to cause isolated foveal hypoplasia which is autosomal dominant (Hingorani et al., 2009; Thomas et al., 2014).
Created: 7 Mar 2022, 4:18 p.m. | Last Modified: 7 Mar 2022, 4:18 p.m.
Panel Version: 2.242
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
foveal hypoplasia; optic nerve hypoplasia; anirdia
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