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| Structural eye disease v0.76 | TYRP1 | Nicola Ragge reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: 10644000; Phenotypes: Albinism, oculocutaneous, type III, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 203290, 612271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | RP1 | Nicola Ragge reviewed gene: RP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 1, 180100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | TYRP1 | Ivone Leong edited their review of gene: TYRP1: Changed phenotypes: Albinism, oculocutaneous, type III, 203290, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.48 | RP1 | Ivone Leong edited their review of gene: RP1: Changed phenotypes: Retinitis pigmentosa 1, 180100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | TYRP1 | Ivone Leong reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: 10644000; Phenotypes: Cone-rod dystrophy, Immunodeficiency 13, 615518; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | RP1 | Ivone Leong reviewed gene: RP1: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Retinitis pigmentosa 2, 312600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | TYRP1 |
Ivone Leong Source NHS GMS was added to TYRP1. Mode of inheritance for gene TYRP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Albinism, oculocutaneous, type III, 203290 for gene: TYRP1 Publications for gene TYRP1 were changed from to 10644000 |
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| Structural eye disease v0.15 | RP1 |
Ivone Leong Source NHS GMS was added to RP1. Mode of inheritance for gene RP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Retinitis pigmentosa 1, 180100 for gene: RP1 |
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| Structural eye disease v0.2 | TYRP1 |
Ellen McDonagh gene: TYRP1 was added gene: TYRP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TYRP1 was set to Phenotypes for gene: TYRP1 were set to Eye Disorders |
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| Structural eye disease v0.2 | RP1 |
Ellen McDonagh gene: RP1 was added gene: RP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RP1 was set to Phenotypes for gene: RP1 were set to Eye Disorders |
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