Department Of Medical Genetics, Faculty Of Medicine (Ege University), EGEMEDGEN
General information
Department Of Medical Genetics, Faculty Of Medicine, EGEMEDGEN
Ege University
Izmir
Izmir
Turkey - 35100
http://www.ege.edu.tr/
Organization ID: 505543
Ege University
Izmir
Izmir
Turkey - 35100
http://www.ege.edu.tr/
Organization ID: 505543
Personnel
- Bilgesu AK, Principal Investigator
Phone: +905374250981
Email: [email protected] - Ozge GUNGOR, Principal Investigator
Phone: +905514029654
Email: [email protected] - Gizem KOK, Principal Investigator
Phone: +905064598639
Email: [email protected] - MERT PEKERBAS, Principal Investigator
Phone: +905065985302
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 13
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Asphyxiating thoracic dystrophy 3 | 2 | Sep 12, 2023 |
| Bardet-Biedl syndrome 1 | 2 | Oct 6, 2015 |
| Bardet-Biedl syndrome 10 | 3 | Oct 6, 2015 |
| Bardet-Biedl syndrome 2 | 1 | Oct 6, 2015 |
| Bardet-Biedl syndrome 4 | 1 | Oct 6, 2015 |
| Bardet-Biedl syndrome 7 | 1 | Oct 6, 2015 |
| Bardet-Biedl syndrome 9 | 1 | Oct 6, 2015 |
| Cerebellar ataxia | 1 | Feb 21, 2023 |
| Global developmental delay | 1 | Jun 7, 2022 |