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| Severe Paediatric Disorders v0.12 | PAX3 | Louise Daugherty reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PAX3 | Louise Daugherty Publications for gene PAX3 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | PAX3 | Louise Daugherty Mode of inheritance for gene PAX3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | PAX3 | Louise Daugherty Added phenotypes Rhabdomyosarcoma 2, alveolar, 268220; Waardenburg syndrome, type 1, 193500; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 3, 148820 for gene: PAX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PAX3 | Louise Daugherty Added phenotypes Rhabdomyosarcoma 2, alveolar, 268220; Waardenburg syndrome, type 1, 193500; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 3, 148820 for gene: PAX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | PAX3 | Louise Daugherty Added phenotypes Rhabdomyosarcoma 2, alveolar, 268220; Waardenburg syndrome, type 1, 193500; Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 3, 148820 for gene: PAX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | PAX3 | Louise Daugherty Added phenotypes Craniofacial-deafness-hand syndrome, 122880; Waardenburg syndrome, type 3, 148820; Rhabdomyosarcoma 2, alveolar, 268220; Waardenburg syndrome, type 1, 193500 for gene: PAX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | PAX3 | Louise Daugherty Source Next Generation Children Project was added to PAX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | PAX3 |
Louise Daugherty Source Expert Review Green was added to PAX3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | PAX3 |
Louise Daugherty gene: PAX3 was added gene: PAX3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PAX3 was set to |
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