Activity
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3 actions
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| DDG2P v4.10 | RPL26 | Achchuthan Shanmugasundram commented on gene: RPL26: The DDG2P confidence category for the disease DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product (PMID: 22431104). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RPL26 | Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104; Phenotypes: DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RPL26 |
Achchuthan Shanmugasundram gene: RPL26 was added gene: RPL26 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL26 were set to 22431104 Phenotypes for gene: RPL26 were set to DIAMOND-BLACKFAN ANEMIA 11, OMIM:614900 |
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