| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v3.73 | OPTN | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | OPTN | Nicola Ragge reviewed gene: OPTN: Rating: RED; Mode of pathogenicity: ; Publications: 11834836; Phenotypes: Glaucoma 1, open angle, E, 137760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | OPTN | Ivone Leong edited their review of gene: OPTN: Changed phenotypes: Glaucoma 1, open angle, E, 137760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | OPTN | Ivone Leong reviewed gene: OPTN: Rating: RED; Mode of pathogenicity: ; Publications: 11834836; Phenotypes: Usher syndrome, type 1D/F digenic, 601067, Usher syndrome, type 1F, 602083, Deafness, autosomal recessive 23, 609533; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.34 | OPTN | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | OPTN |
Ivone Leong 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | OPTN |
Ellen McDonagh 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||