Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | RP9 | Nicola Ragge reviewed gene: RP9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ?Retinitis pigmentosa 9, 180104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | RP9 | Ivone Leong edited their review of gene: RP9: Changed phenotypes: ?Retinitis pigmentosa 9, 180104 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | RP9 | Ivone Leong reviewed gene: RP9: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Leber congenital amaurosis 2, 204100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | RP9 |
Ivone Leong Source NHS GMS was added to RP9. Mode of inheritance for gene RP9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes ?Retinitis pigmentosa 9, 180104 for gene: RP9 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | RP9 |
Ellen McDonagh gene: RP9 was added gene: RP9 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RP9 was set to Phenotypes for gene: RP9 were set to Eye Disorders |