Pediatric Endocrinology Clinic (Ege University School of Medicine)
General information
Pediatric Endocrinology Clinic
Ege University School of Medicine
Ege Universitesi Tıp Fakültesi Çocuk Hastanesi, bornova Izmir
Izmir
Izmir
Turkey - 35100
http://www.ege.edu.tr
Organization ID: 507842
Ege University School of Medicine
Ege Universitesi Tıp Fakültesi Çocuk Hastanesi, bornova Izmir
Izmir
Izmir
Turkey - 35100
http://www.ege.edu.tr
Organization ID: 507842
Personnel
- Aysun Ata, Administrator
Phone: +905054952030
Email: draysunkaya@gmail.com - Samim Ozen, Administrator
Phone: +905053767385
Email: samimozen@gmail.com
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AMH | 1 | Nov 30, 2020 |
| AR | 1 | Nov 30, 2020 |
| CREBBP | 1 | Nov 30, 2020 |
| LHCGR | 1 | Feb 12, 2021 |
| LOC130063038 | 1 | Nov 30, 2020 |
| MIR4321 | 1 | Nov 30, 2020 |
| PTPN11 | 1 | Dec 2, 2020 |
| SRD5A2 | 1 | Nov 30, 2020 |
| STON1-GTF2A1L | 1 | Feb 12, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 1 | Nov 30, 2020 |
| Androgen resistance syndrome | 1 | Nov 30, 2020 |
| Leydig cell agenesis | 1 | Feb 12, 2021 |
| Noonan syndrome 1 | 1 | Dec 2, 2020 |
| Persistent Mullerian duct syndrome | 1 | Nov 30, 2020 |
| Rubinstein-Taybi syndrome due to CREBBP mutations | 1 | Nov 30, 2020 |