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Structural eye disease v0.76 | PROM1 | Nicola Ragge reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Stargardt disease 4, Macular dystrophy, retinal, 2, Retinitis pigmentosa 41, Cone-rod dystrophy 12, 603786, 608051, 612095, 612657; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.48 | PROM1 | Ivone Leong edited their review of gene: PROM1: Changed phenotypes: Stargardt disease 4, 603786, Macular dystrophy, retinal, 2, 608051, Retinitis pigmentosa 41, 612095, Cone-rod dystrophy 12, 612657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | PROM1 | Ivone Leong reviewed gene: PROM1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 18, 601414; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | PROM1 |
Ivone Leong Source NHS GMS was added to PROM1. Mode of inheritance for gene PROM1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Cone-rod dystrophy 12, 612657; Retinitis pigmentosa 41, 612095 for gene: PROM1 |
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Structural eye disease v0.2 | PROM1 |
Ellen McDonagh gene: PROM1 was added gene: PROM1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: PROM1 was set to Phenotypes for gene: PROM1 were set to Eye Disorders |