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| Pigmentary skin disorders v1.51 | TYR | Arina Puzriakova Phenotypes for gene: TYR were changed from ALBINISM, OCULOCUTANEOUS, TYPE IA; Oculocutaneous albinism; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.27 | TYRP1 |
Catherine Snow Added phenotypes OCA3; ALBINISM, OCULOCUTANEOUS, TYPE III for gene: TYRP1 Publications for gene TYRP1 were changed from to 9345097 |
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| Pigmentary skin disorders v0.27 | TYR |
Catherine Snow Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB for gene: TYR Publications for gene TYR were changed from to 18326704 |
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| Pigmentary skin disorders v0.25 | TYRP1 | Tom Cullup reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345097; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE III, OCA3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.25 | TYR | Tom Cullup reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18326704; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE IA, OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB, OCA1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | TYRP1 | Rebecca Foulger Source London North GLH was added to TYRP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | TYR | Rebecca Foulger Source London North GLH was added to TYR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | TYRP1 | Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | TYR | Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | TYRP1 |
Rebecca Foulger gene: TYRP1 was added gene: TYRP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism |
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| Pigmentary skin disorders v0.3 | TYR |
Rebecca Foulger gene: TYR was added gene: TYR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Oculocutaneous albinism |
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