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| Respiratory ciliopathies including non-CF bronchiectasis v4.29 | IFT74 | Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive IFT74 variants to ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008711.; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive IFT74 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008711. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.29 | IFT74 | Achchuthan Shanmugasundram Phenotypes for gene: IFT74 were changed from ciliary dyskinesia, MONDO:0016575 to primary ciliary dyskinesia, MONDO:0016575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.28 | IFT74 | Achchuthan Shanmugasundram reviewed gene: IFT74: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.28 | IFT74 | Achchuthan Shanmugasundram Phenotypes for gene: IFT74 were changed from ciliary dyskinesia, MONDO:0016575) to ciliary dyskinesia, MONDO:0016575 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.27 | IFT74 |
Achchuthan Shanmugasundram gene: IFT74 was added gene: IFT74 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT74 were set to ciliary dyskinesia, MONDO:0016575) |
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