Glaucoma (developmental)
Gene: OPTN
glaucoma gene, can't find any evidence that it is associated with structural eye disease. Glaucoma seems adult-onsetCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1, open angle, E; 137760
Publications
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-onsetCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Glaucoma 1, open angle, E, 137760
Publications
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.
Disease associated polymorphismsCreated: 17 Mar 2017, 3:58 p.m.
Phenotypes
Open angle glaucoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657 to Glaucoma 1, open angle, E, OMIM:137760; {Glaucoma, normal tension, susceptibility to}, OMIM:606657; Adult-onset
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for OPTN were set to Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657
Publications for OPTN were set to 11834836
Publications for OPTN were set to 11834836
Model of inheritance for gene OPTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene OPTN was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
OPTN was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen
OPTN was added to Glaucoma (developmental)panel. Sources: Illumina TruGenome Clinical Sequencing Services