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Retinal disorders

Gene: PAX2

Green List (high evidence)

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 19 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
Papillorenal syndrome, MIM# 120330

Ivone Leong (Genomics England Curator)

I don't know

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

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: PAX2.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PAX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: PAX2.

22 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PAX2 were set to

22 Jan 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

22 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, OMIM:120330; renal coloboma syndrome, MONDO:0007352

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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