Activity
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6 actions
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| DDG2P v6.207 | IFT43 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT43 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IFT43 | Achchuthan Shanmugasundram edited their review of gene: IFT43: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT43-related cranioectodermal dysplasia are definitive, biallelic_autosomal and undetermined (PMID:21378380). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00347.; Changed phenotypes to: OMIM:614099.0, CRANIOECTODERMAL DYSPLASIA TYPE 3, OMIM:614099, IFT43-related cranioectodermal dysplasia, MONDO:0013573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT43 | Achchuthan Shanmugasundram reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21378380; Phenotypes: CRANIOECTODERMAL DYSPLASIA TYPE 3, OMIM:614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFT43 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT43 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFT43 | Rebecca Foulger reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IFT43 |
Rebecca Foulger gene: IFT43 was added gene: IFT43 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 21378380 Phenotypes for gene: IFT43 were set to CRANIOECTODERMAL DYSPLASIA TYPE 3 614099 Mode of pathogenicity for gene: IFT43 was set to Other - please provide details in the comments |
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