| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Respiratory ciliopathies including non-CF bronchiectasis v1.23 | CFAP57 | Ivone Leong Classified gene: CFAP57 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.23 | CFAP57 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. This gene is not associated with any phenotypes in OMIM or Gene2Phenotype and based on the available evidence this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.23 | CFAP57 | Ivone Leong Gene: cfap57 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.22 | CFAP57 | Ivone Leong Added comment: Comment on publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028 has now been published and is PMID: 32764743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.22 | CFAP57 | Ivone Leong Publications for gene: CFAP57 were set to 32764743 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.21 | CFAP57 | Ivone Leong Publications for gene: CFAP57 were set to bioRxiv 773028 doi: https://doi.org/10.1101/773028 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v1.7 | CFAP57 |
Zornitza Stark gene: CFAP57 was added gene: CFAP57 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Other Mode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP57 were set to bioRxiv 773028 doi: https://doi.org/10.1101/773028 Phenotypes for gene: CFAP57 were set to Primary ciliary dyskinesia Review for gene: CFAP57 was set to RED Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided. Sources: Other |
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