Activity
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6 actions
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| DDG2P v6.208 | IFT80 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: IFT80 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | IFT80 | Achchuthan Shanmugasundram edited their review of gene: IFT80: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for IFT80-related asphyxiating thoracic dystrophy are definitive, biallelic_autosomal and undetermined (PMID:17468754). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01252.; Changed phenotypes to: IFT80-related asphyxiating thoracic dystrophy, ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263, MONDO:0012644, OMIM:611263.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | IFT80 | Achchuthan Shanmugasundram reviewed gene: IFT80: Rating: GREEN; Mode of pathogenicity: Other; Publications: 17468754; Phenotypes: ASPHYXIATING THORACIC DYSTROPHY 2, OMIM:611263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFT80 | Achchuthan Shanmugasundram Mode of pathogenicity for gene IFT80 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFT80 | Rebecca Foulger reviewed gene: IFT80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IFT80 |
Rebecca Foulger gene: IFT80 was added gene: IFT80 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT80 were set to 17468754 Phenotypes for gene: IFT80 were set to ASPHYXIATING THORACIC DYSTROPHY 2 611263 Mode of pathogenicity for gene: IFT80 was set to Other - please provide details in the comments |
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