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| Structural eye disease v1.151 | TYR | Arina Puzriakova Phenotypes for gene: TYR were changed from [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Eye Disorders; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.150 | TYR | Arina Puzriakova Mode of inheritance for gene: TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TYR | Nicola Ragge reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: 28778995; Phenotypes: Albinism, oculocutaneous, type IA, Albinism, oculocutaneous, type IB, Waardenburg syndrome/albinism, digenic, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], {Melanoma, cutaneous malignant, susceptibility to, 8}, 203100, 606952, 103470, 601800, 601800, 601800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TYR | Ivone Leong edited their review of gene: TYR: Changed phenotypes: Albinism, oculocutaneous, type IA, 203100, Albinism, oculocutaneous, type IB, 606952, Waardenburg syndrome/albinism, digenic, 103470, [Skin/hair/eye pigmentation 3, blue/green eyes], [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800, {Melanoma, cutaneous malignant, susceptibility to, 8} | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TYR | Ivone Leong reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: 28778995; Phenotypes: Albinism, oculocutaneous, type III, 203290, [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | TYR |
Ivone Leong Source NHS GMS was added to TYR. Mode of inheritance for gene TYR was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes [Skin/hair/eye pigmentation 3, blue/green eyes]; Albinism, oculocutaneous, type IB, 606952; Waardenburg syndrome/albinism, digenic, 103470; [Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800; Albinism, oculocutaneous, type IA, 203100; {Melanoma, cutaneous malignant, susceptibility to, 8} for gene: TYR Publications for gene TYR were changed from to 28778995 |
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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 | TYR |
Ellen McDonagh gene: TYR was added gene: TYR was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TYR was set to Phenotypes for gene: TYR were set to Eye Disorders |
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