Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.45 | WFDC2 | Arina Puzriakova Publications for gene: WFDC2 were set to 38626355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.44 | WFDC2 | Arina Puzriakova Classified gene: WFDC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.44 | WFDC2 | Arina Puzriakova Added comment: Comment on list classification: PMID: 38626355; 4040104214 - individuals from 14 families have been reported with biallelic variants in this gene and bronchiectasis, nasal polyposis and sinopulmonary disease. Ciliary structure, beat frequency and coordination, as well as mucus viscosity were all within normal range and therefore this gene does not seem relevant to this panel. Rating Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.44 | WFDC2 | Arina Puzriakova Gene: wfdc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.43 | WFDC2 | Arina Puzriakova Phenotypes for gene: WFDC2 were changed from Nasal Polyposis; Bronchiectasis to Bronchiectasis and nasal polyposis, OMIM:620984 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary ciliary disorders v1.42 | WFDC2 |
Max Xiaohang Zhao gene: WFDC2 was added gene: WFDC2 was added to Primary ciliary disorders. Sources: Literature Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WFDC2 were set to 38626355 Phenotypes for gene: WFDC2 were set to Nasal Polyposis; Bronchiectasis Penetrance for gene: WFDC2 were set to unknown Review for gene: WFDC2 was set to RED gene: WFDC2 was marked as current diagnostic Added comment: Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||