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| DDG2P v3.12 | PRRX1 | Achchuthan Shanmugasundram reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: Other; Publications: 23444262, 22211708; Phenotypes: AGNATHIA-OTOCEPHALY COMPLEX monoallelic, AGNATHIA-OTOCEPHALY COMPLEX biallelic; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PRRX1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene PRRX1 was changed from Other - please provide details in the comments to Other Publications for gene: PRRX1 were updated from 22211708; 23444262 to 23444262; 22211708 |
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| DDG2P v0.46 | PRRX1 | Rebecca Foulger commented on gene: PRRX1: DDG2P updated 09/01/2019. Rating renains as 'possible' for both the monoallelic and biallelic disorders. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.46 | PRRX1 | Rebecca Foulger Added comment: Comment on phenotypes: Phenotypes updated based on DDG2P update 09/01/2019: 'AGNATHIA-OTOCEPHALY COMPLEX 202650' phenotype replaced. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.46 | PRRX1 | Rebecca Foulger Phenotypes for gene: PRRX1 were changed from AGNATHIA-OTOCEPHALY COMPLEX 202650 to AGNATHIA-OTOCEPHALY COMPLEX biallelic; AGNATHIA-OTOCEPHALY COMPLEX monoallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PRRX1 | Rebecca Foulger reviewed gene: PRRX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PRRX1 | Rebecca Foulger Added phenotypes AGNATHIA-OTOCEPHALY COMPLEX 202650 for gene: PRRX1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PRRX1 |
Rebecca Foulger gene: PRRX1 was added gene: PRRX1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRRX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PRRX1 were set to 22211708; 23444262 Phenotypes for gene: PRRX1 were set to AGNATHIA-OTOCEPHALY COMPLEX 202650 Mode of pathogenicity for gene: PRRX1 was set to Other - please provide details in the comments |
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