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| Structural eye disease v0.76 | PRPH2 | Nicola Ragge reviewed gene: PRPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Retinitis punctata albescens, Macular dystrophy, patterned, 1, Leber congenital amaurosis 18, Macular dystrophy, vitelliform, 3, Choriodal dystrophy, central areolar 2 , 136880, 169150, 608133, 608161, 613105; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | PRPH2 | Ivone Leong edited their review of gene: PRPH2: Changed phenotypes: Retinitis punctata albescens, 136880, Macular dystrophy, patterned, 1, 169150, Leber congenital amaurosis 18, 608133, Macular dystrophy, vitelliform, 3, 608161, Choriodal dystrophy, central areolar 2, 613105 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PRPH2 | Ivone Leong reviewed gene: PRPH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cone-rod dystrophy 11, 610381, Macular degeneration, age-related, 6, 613757; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PRPH2 |
Ivone Leong Source NHS GMS was added to PRPH2. Mode of inheritance for gene PRPH2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Retinitis punctata albescens, 136880; Leber congenital amaurosis 18, 608133; Choriodal dystrophy, central areolar 2, 613105; Macular dystrophy, vitelliform, 3, 608161; Macular dystrophy, patterned, 1, 169150 for gene: PRPH2 |
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| Structural eye disease v0.2 | PRPH2 |
Ellen McDonagh gene: PRPH2 was added gene: PRPH2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PRPH2 was set to Phenotypes for gene: PRPH2 were set to Eye Disorders |
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