Glaucoma (developmental)
Gene: OPA1
optic atrophy but no other evidence of structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome; Optic atrophy 1; Behr syndrome; Glaucoma, normal tension, susceptibility to; ; 125250; 165500; 210000;
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). optic atrophy but no other evidence of structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy plus syndrome, 125250; Optic atrophy 1, 165500; Behr syndrome; Glaucoma, normal tension, susceptibility to, 210000
Comment on list classification: Demoted to red from amber, as for glaucoma variants in this gene are associated with susceptibility and are not causative of monogenic disease.Created: 12 Apr 2017, 11:30 a.m.
Disease associated polymorphismsCreated: 17 Mar 2017, 3:58 p.m.
Phenotypes
Optic atrophy; Susceptibility to normal tension glaucoma
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: OPA1 were changed from {Glaucoma, normal tension, susceptibility to} 606657 to {Glaucoma, normal tension, susceptibility to}, OMIM:606657
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Phenotypes for OPA1 were set to {Glaucoma, normal tension, susceptibility to} 606657
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
OPA1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory
OPA1 was added to Glaucoma (developmental)panel. Sources: Radboud University Medical Center, Nijmegen