Structural eye disease
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
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
Phenotypes for gene: OPTN were changed from Glaucoma 1, open angle, E, 137760; Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657 to Glaucoma 1, open angle, E, 137760; {Glaucoma, normal tension, susceptibility to} 606657
Source NHS GMS was added to OPTN. Mode of inheritance for gene OPTN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Glaucoma 1, open angle, E, 137760 for gene: OPTN
gene: OPTN was added gene: OPTN was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OPTN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: OPTN were set to 11834836 Phenotypes for gene: OPTN were set to Glaucoma 1, open angle, E 137760; {Glaucoma, normal tension, susceptibility to} 606657