Activity
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4 actions
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| DDG2P v6.90 | CBFB | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CBFB was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CBFB | Achchuthan Shanmugasundram edited their review of gene: CBFB: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CBFB-related cleidocranial dysplasia are moderate, monoallelic_autosomal and undetermined (PMID:36241386). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03513.; Changed phenotypes to: OMIM:620099.0, CBFB-related cleidocranial dysplasia, MONDO:0859307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | CBFB | Achchuthan Shanmugasundram reviewed gene: CBFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36241386; Phenotypes: CBFB-related cleidocranial dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | CBFB |
Achchuthan Shanmugasundram gene: CBFB was added gene: CBFB was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CBFB were set to 36241386 Phenotypes for gene: CBFB were set to CBFB-related cleidocranial dysplasia Mode of pathogenicity for gene: CBFB was set to Other |
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