Activity
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6 actions
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| DDG2P v6.297 | POLR2A | Achchuthan Shanmugasundram Mode of pathogenicity for gene: POLR2A was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | POLR2A | Achchuthan Shanmugasundram edited their review of gene: POLR2A: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for POLR2A-related syndromic intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 31353023, 33665635, 35461703). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02762.; Changed publications to: 33665635, 31353023, 35461703; Changed phenotypes to: OMIM:618603.0, MONDO:0032829, POLR2A-related syndromic intellectual disability, SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POLR2A | Achchuthan Shanmugasundram reviewed gene: POLR2A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33665635, 35461703, 31353023; Phenotypes: SYNDROMIC INTELLECTUAL DISABILITY, OMIM:612100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | POLR2A |
Achchuthan Shanmugasundram Mode of pathogenicity for gene POLR2A was changed from Other - please provide details in the comments to Other Publications for gene: POLR2A were updated from 31353023 to 33665635; 35461703; 31353023 |
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| DDG2P v1.130 | POLR2A | Rebecca Foulger reviewed gene: POLR2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | POLR2A |
Rebecca Foulger gene: POLR2A was added gene: POLR2A was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: POLR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: POLR2A were set to 31353023 Phenotypes for gene: POLR2A were set to SYNDROMIC INTELLECTUAL DISABILITY 612100 Mode of pathogenicity for gene: POLR2A was set to Other - please provide details in the comments |
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