Ocular coloboma

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

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.

Alice Gardham (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome 120330

Publications

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

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

PAX2 was created by agardham

16 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

PAX2 was added to Ocular colobomapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN