Activity
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4 actions
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| DDG2P v6.132 | DDB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: DDB1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | DDB1 | Achchuthan Shanmugasundram edited their review of gene: DDB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for DDB1-related neurodevelopmental syndrome are strong, monoallelic_autosomal and undetermined (PMID:33743206). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03117.; Changed phenotypes to: OMIM:619426.0, DDB1-associated neurodevelopmental syndrome, MONDO:0859169, DDB1-related neurodevelopmental syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | DDB1 | Achchuthan Shanmugasundram reviewed gene: DDB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33743206; Phenotypes: DDB1-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | DDB1 |
Achchuthan Shanmugasundram gene: DDB1 was added gene: DDB1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DDB1 were set to 33743206 Phenotypes for gene: DDB1 were set to DDB1-associated neurodevelopmental syndrome Mode of pathogenicity for gene: DDB1 was set to Other |
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