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| DDG2P v3.12 | POLA1 | Achchuthan Shanmugasundram reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31006512; Phenotypes: VAN ESCH-O'DRISCOLL SYNDROME, OMIM:301030; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.130 | POLA1 | Rebecca Foulger reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | POLA1 |
Rebecca Foulger gene: POLA1 was added gene: POLA1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: POLA1 were set to 31006512 Phenotypes for gene: POLA1 were set to VAN ESCH-O'DRISCOLL SYNDROME 301030 |
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