Ocular coloboma
Gene: PAX2

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 17 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Green List (high evidence)

This is a very rare cause of isolated choroidoretinal/iris coloboma in the Edinburgh Eye Malformation Cohort. It does cause an optic disc malformation in humans and undoubtedly causes coloboma in animal models. It is an excellent marker of the closing optic fissure!
Created: 2 Feb 2017, 10:17 a.m.

Created: 2 Feb 2017, 10:17 a.m.

Panel version: 0.102

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome 120330

Publications

8589702,

Created: 16 Nov 2016, 12:55 p.m.

Panel version: 0.13

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen

Phenotypes

Papillorenal syndrome 120330

OMIM

167409

Clinvar variants

Variants in PAX2

Penetrance

Complete

Publications

8589702

Panels with this gene

History Filter Activity

24 May 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PAX2 were set to 8589702

6 Feb 2017, Gel status: 4