Activity
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6 actions
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| DDG2P v6.123 | CRKL | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CRKL was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CRKL | Achchuthan Shanmugasundram edited their review of gene: CRKL: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CRKL-related bladder exstrophy plus are limited, monoallelic_autosomal and undetermined (PMIDs: 24764164, 30628148, 34355505). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02557.; Changed publications to: 24764164, 30628148, 34355505; Changed phenotypes to: CRKL-related bladder exstrophy plus, Bladder exstrophy plus | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CRKL | Achchuthan Shanmugasundram reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: Bladder exstrophy plus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CRKL | Achchuthan Shanmugasundram Mode of pathogenicity for gene CRKL was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CRKL | Rebecca Foulger reviewed gene: CRKL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CRKL |
Rebecca Foulger gene: CRKL was added gene: CRKL was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CRKL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CRKL were set to Bladder exstrophy plus Mode of pathogenicity for gene: CRKL was set to Other - please provide details in the comments |
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