Anophthalmia_Microphthalmia_Coloboma
Gene: PAX2

PAX2 (paired box 2)
EnsemblGeneIds (GRCh38): ENSG00000075891
EnsemblGeneIds (GRCh37): ENSG00000075891
OMIM: 167409, Gene2Phenotype
PAX2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.

Eye anomalies consist of a 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: 27 Dec 2020, 10:25 p.m. | Last Modified: 27 Dec 2020, 10:25 p.m.

Panel Version: 0.118

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352

Publications

21654726

Created: 27 Dec 2020, 10:25 p.m.
Last Modified: 27 Dec 2020, 10:25 p.m.
Panel version: 0.118

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Papillorenal syndrome, MIM# 120330
Renal coloboma syndrome, MONDO:0007352

OMIM

167409

Clinvar variants

Variants in PAX2

Penetrance

None

Publications

21654726

Panels with this gene