Activity
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6 actions
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| DDG2P v6.206 | IFT122 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT122 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IFT122 | Achchuthan Shanmugasundram edited their review of gene: IFT122: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT122-related cranioectodermal dysplasia are definitive, biallelic_autosomal and undetermined (PMIDs: 17022080, 19760620, 20493458). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00514.; Changed publications to: 19760620, 20493458, 17022080; Changed phenotypes to: IFT122-related cranioectodermal dysplasia, MONDO:0021093, CRANIOECTODERMAL DYSPLASIA, OMIM:218330, OMIM:218330.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT122 | Achchuthan Shanmugasundram reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17022080, 19760620, 20493458; Phenotypes: CRANIOECTODERMAL DYSPLASIA, OMIM:218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFT122 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT122 was changed from Other - please provide details in the comments to Other Publications for gene: IFT122 were updated from 19760620; 17022080; 20493458 to 17022080; 19760620; 20493458 |
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| DDG2P v0.2 | IFT122 | Rebecca Foulger reviewed gene: IFT122: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IFT122 |
Rebecca Foulger gene: IFT122 was added gene: IFT122 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT122 were set to 19760620; 17022080; 20493458 Phenotypes for gene: IFT122 were set to CRANIOECTODERMAL DYSPLASIA 218330 Mode of pathogenicity for gene: IFT122 was set to Other - please provide details in the comments |
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