Activity
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7 actions
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| Bardet Biedl syndrome v2.7 | IFT57 | Achchuthan Shanmugasundram Classified gene: IFT57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.7 | IFT57 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is one patient and functional evidence reported, IFT57 should be rated amber with the current evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.7 | IFT57 | Achchuthan Shanmugasundram Gene: ift57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.6 | IFT57 | Achchuthan Shanmugasundram Phenotypes for gene: IFT57 were changed from Bardet-Biedl syndrome to Bardet-Biedl syndrome, MONDO:0015229 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.5 | IFT57 | Achchuthan Shanmugasundram Publications for gene: IFT57 were set to PMID: 40273360 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.4 | IFT57 | Achchuthan Shanmugasundram reviewed gene: IFT57: Rating: AMBER; Mode of pathogenicity: None; Publications: 40273360; Phenotypes: Bardet-Biedl syndrome, MONDO:0015229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bardet Biedl syndrome v2.4 | IFT57 |
Krista Bukele gene: IFT57 was added gene: IFT57 was added to Bardet Biedl syndrome. Sources: Literature Mode of inheritance for gene: IFT57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT57 were set to PMID: 40273360 Phenotypes for gene: IFT57 were set to Bardet-Biedl syndrome Penetrance for gene: IFT57 were set to unknown Review for gene: IFT57 was set to AMBER Added comment: PMID: 40273360 described one case with Bardet-Biedl syndrome and biallelic variant in IFT57 with some functional evidence. Sources: Literature |
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