Retinal disordersGene: PAX2
Broad range of retinal findings described: wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, designated optic nerve 'coloboma' or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia.
Created: 13 Oct 2020, 6:36 a.m. | Last Modified: 13 Oct 2020, 6:36 a.m.
Panel Version: 2.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Papillorenal syndrome, MIM# 120330
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.
Created: 22 Jan 2021, 1:29 p.m. | Last Modified: 22 Jan 2021, 1:29 p.m.
Panel Version: 2.127
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5
Tag for-review was removed from gene: PAX2.
Source Expert Review Green was added to PAX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: PAX2.
Publications for gene: PAX2 were set to
Mode of inheritance for gene: PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, OMIM:120330; renal coloboma syndrome, MONDO:0007352
gene: PAX2 was added gene: PAX2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PAX2 was set to