Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Structural eye disease v0.76 | RPE65 | Nicola Ragge reviewed gene: RPE65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber congenital amaurosis 2, 204100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | RPE65 | Ivone Leong edited their review of gene: RPE65: Changed phenotypes: Leber congenital amaurosis 2, 204100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | RPE65 | Ivone Leong reviewed gene: RPE65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis pigmentosa 3, 300029, Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455, Macular degeneration, X-linked atrophic, 300834, Cone-rod dystrophy, X-linked, 1, 304020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | RPE65 |
Ivone Leong Source NHS GMS was added to RPE65. Mode of inheritance for gene RPE65 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Leber congenital amaurosis 2, 204100 for gene: RPE65 |
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Structural eye disease v0.2 | RPE65 |
Ellen McDonagh gene: RPE65 was added gene: RPE65 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RPE65 was set to Phenotypes for gene: RPE65 were set to Eye Disorders |