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| DDG2P v3.12 | PAX3 | Achchuthan Shanmugasundram reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20478267, 8490648, 7726174, 8664898, 1347148, 35607853, 26443304, 12949970, 14556253, 1303193, 1308353, 8447316, 1887852; Phenotypes: Waardenburg syndrome type 3, WAARDENBURG SYNDROME, TYPE 1, OMIM:193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAX3 |
Achchuthan Shanmugasundram Mode of inheritance for gene PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PAX3 were updated from 6859126 to 8490648; 1887852; 7726174; 8664898; 1347148; 35607853; 6859126; 26443304; 12949970; 14556253; 1303193; 1308353; 8447316; 20478267 |
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| DDG2P v0.2 | PAX3 | Rebecca Foulger reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PAX3 |
Rebecca Foulger Added phenotypes CRANIOFACIAL-DEAFNESS-HAND SYNDROME 122880 for gene: PAX3 Publications for gene PAX3 were changed from 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267 to 6859126 |
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| DDG2P v0.1 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PAX3 were set to 1347148; 1308353; 7726174; 8447316; 1303193; 1887852; 8490648; 20478267 Phenotypes for gene: PAX3 were set to WAARDENBURG SYNDROME, TYPE 1 193500 |
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