Activity
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| Pigmentary skin disorders v0.27 | PAX3 |
Catherine Snow Added phenotypes WAARDENBURG SYNDROME, TYPE 1; WS3; WS1, WAARDENBURG SYNDROME, TYPE 3 for gene: PAX3 Publications for gene PAX3 were changed from to 8533800; 8447316 |
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| Pigmentary skin disorders v0.25 | PAX3 | Tom Cullup reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8533800, 8447316; Phenotypes: WAARDENBURG SYNDROME, TYPE 1, WS1, WAARDENBURG SYNDROME, TYPE 3, WS3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.8 | PAX3 | Rebecca Foulger Source London North GLH was added to PAX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.7 | PAX3 | Rebecca Foulger Added comment: Comment on mode of inheritance: MOI is monoallelic (AD) for Waardenburg syndrome, type 1, 193500. MOI is both monoallelic and biallelic (AD, AR) for Waardenburg syndrome, type 3, 148820. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.7 | PAX3 | Rebecca Foulger Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.6 | PAX3 | Rebecca Foulger commented on gene: PAX3: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. PAX3 is Green on 'Hearing loss' panel with 'Waardenburg phenotypes, and has a confirmed rating on DD-G2P for WAARDENBURG SYNDROME, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.4 | PAX3 | Rebecca Foulger reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pigmentary skin disorders v0.3 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PAX3 were set to Waardenburg syndrome |
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