Laboratory of Cell Biology (Institute of Biomedical Sciences Abel Salazar University of Porto)
General information
Laboratory of Cell Biology
Institute of Biomedical Sciences Abel Salazar University of Porto
Rua Jorge Viterbo Ferreira, 228
Porto
Portugal - 4050-313
https://sigarra.up.pt/icbas/en/WEB_PAGE.INICIAL
Organization ID: 505199
Institute of Biomedical Sciences Abel Salazar University of Porto
Rua Jorge Viterbo Ferreira, 228
Porto
Portugal - 4050-313
https://sigarra.up.pt/icbas/en/WEB_PAGE.INICIAL
Organization ID: 505199
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 19
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abdominal situs inversus | 2 | Jan 18, 2019 |
| Abnormal ciliary motility | 1 | Jun 13, 2019 |
| Absent inner and outer dynein arms | 2 | Jun 13, 2019 |
| Bronchiectasis | 1 | Jun 13, 2019 |
| Dynein arm defect of respiratory motile cilia | 2 | Jun 13, 2019 |
| Fibrous Sheath Dysplasia | 1 | May 20, 2014 |
| Kartagener syndrome | 4 | Feb 1, 2018 |
| Primary ciliary dyskinesia | 5 | Jun 9, 2022 |
| Primary ciliary dyskinesia 15 | 1 | May 20, 2014 |
| Primary ciliary dyskinesia 21 | 1 | Jun 9, 2022 |
| Primary ciliary dyskinesia 3 | 2 | May 20, 2014 |
| Recurrent bronchitis | 1 | Jun 13, 2019 |
| Situs inversus | 1 | Apr 22, 2019 |
| axonemas with defects on microtubules | 1 | May 20, 2014 |
| not provided | 5 | Oct 9, 2014 |
| sperm axonema without dynein arms and nexin bridges | 1 | May 20, 2014 |