Activity
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7 actions
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| DDG2P v6.438 | RNU12 | Arina Puzriakova Tag gene-checked was removed from gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.322 | RNU12 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RNU12 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RNU12 | Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RNU12-related CDAGS syndrome are limited, biallelic_autosomal and undetermined (PMIDs: 27863452, 34085356). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03197.; Changed publications to: 34085356, 27863452; Changed phenotypes to: MONDO:0011287, RNU12-related CDAGS syndrome, OMIM:603116.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.13 | RNU12 | Arina Puzriakova Tag gene-checked tag was added to gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.6 | RNU12 | Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RNU12 | Achchuthan Shanmugasundram reviewed gene: RNU12: Rating: RED; Mode of pathogenicity: Other; Publications: 27863452, 34085356; Phenotypes: RNU12-related CDAGS syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RNU12 |
Achchuthan Shanmugasundram gene: RNU12 was added gene: RNU12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 27863452; 34085356 Phenotypes for gene: RNU12 were set to RNU12-related CDAGS syndrome Mode of pathogenicity for gene: RNU12 was set to Other |
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