Glaucoma (developmental)

Gene: OPTN

Red List (low evidence)

glaucoma gene, can't find any evidence that it is associated with structural eye disease. Glaucoma seems adult-onset

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1, open angle, E; 137760

Publications

• 11834836

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). glaucoma gene, can't find any evidence that it is associated with structural eye disease. Glaucoma seems adult-onset

Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Glaucoma 1, open angle, E, 137760

Publications

• 11834836

Comment on list classification: Comments from Arianna Tucci: OPTN causes adult-onset glaucoma, NOT developmental glaucoma so I would leave it as red.

Created: 26 Apr 2017, 8:37 a.m.

Comment on list classification: PMID: 11834836 - Seems to be a susceptibility gene "Our data suggest that mutations in OPTN may be responsible for 16.7% of hereditary forms of normal-tension glaucoma with an additional attributable risk factor of 13.6% in both familial and sporadic cases".

Created: 12 Apr 2017, 4:11 p.m.

I don't know

Disease associated polymorphisms

Created: 17 Mar 2017, 3:58 p.m.

Phenotypes
Open angle glaucoma

Publications

• 1590
• 2656

Variants in this GENE are reported as part of current diagnostic practice