Structural eye disease
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
Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; {Glaucoma, normal tension, susceptibility to} 606657; Behr syndrome to {Glaucoma, normal tension, susceptibility to}, OMIM:606657; Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000
Source NHS GMS was added to OPA1. Mode of inheritance for gene OPA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Optic atrophy 1, 165500; Glaucoma, normal tension, susceptibility to, 210000; Optic atrophy plus syndrome, 125250; Behr syndrome for gene: OPA1
gene: OPA1 was added gene: OPA1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OPA1 was set to Phenotypes for gene: OPA1 were set to {Glaucoma, normal tension, susceptibility to} 606657