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| DDG2P v3.12 | POLR1A | Achchuthan Shanmugasundram reviewed gene: POLR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25913037; Phenotypes: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, OMIM:616462; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLR1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to POLR1A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | POLR1A | Rebecca Foulger reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | POLR1A |
Rebecca Foulger gene: POLR1A was added gene: POLR1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR1A were set to 25913037 Phenotypes for gene: POLR1A were set to ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE |
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