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| Structural eye disease v1.122 | OPA1 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | OPA1 | Nicola Ragge reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy plus syndrome, Optic atrophy 1, Behr syndrome, Glaucoma, normal tension, susceptibility to, , 125250, 165500, 210000, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | OPA1 | Ivone Leong edited their review of gene: OPA1: Changed phenotypes: Optic atrophy plus syndrome, 125250, Optic atrophy 1, 165500, Behr syndrome, Glaucoma, normal tension, susceptibility to, 210000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | OPA1 | Ivone Leong reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Optic atrophy 3 with cataract, 165300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | OPA1 |
Ivone Leong 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 |
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| Structural eye disease v0.2 | OPA1 |
Ellen McDonagh 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 |
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