Activity
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4 actions
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| DDG2P v6.100 | CELSR1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CELSR1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CELSR1 | Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CELSR1-related fetal hydrops are limited, monoallelic_autosomal and loss of function (PMID:38272662). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03683.; Changed phenotypes to: MONDO:0015193, CELSR1-related fetal hydrops | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CELSR1 | Achchuthan Shanmugasundram reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: Other; Publications: 38272662; Phenotypes: CELSR1-related fetal hydrops; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | CELSR1 |
Achchuthan Shanmugasundram gene: CELSR1 was added gene: CELSR1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CELSR1 were set to 38272662 Phenotypes for gene: CELSR1 were set to CELSR1-related fetal hydrops Mode of pathogenicity for gene: CELSR1 was set to Other |
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