Hacettepe Genetic Diseases Diagnosis Center (Hacettepe University Faculty of Medicine), GDDC_HU
General information
Hacettepe Genetic Diseases Diagnosis Center, GDDC_HU
Hacettepe University Faculty of Medicine
Hacettepe Mh. 06230 Ankara Turkey
Ankara
Turkey - 06230
http://www.hastane.hacettepe.edu.tr/genetics_203_en.html
Organization ID: 506576
Hacettepe University Faculty of Medicine
Hacettepe Mh. 06230 Ankara Turkey
Ankara
Turkey - 06230
http://www.hastane.hacettepe.edu.tr/genetics_203_en.html
Organization ID: 506576
Personnel
- Can Kosukcu, Informatics staff
Phone: 00903123053038
Email: cankosukcu@hacettepe.edu.tr - Pelin Ozlem Simsek-Kiper, Medical Director
Phone: 00903123051173
Email: pelinozlemkiper@hacettepe.edu.tr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 40
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AGK | 1 | Jan 18, 2019 |
| CANT1 | 1 | Jun 23, 2020 |
| COL6A2 | 1 | May 29, 2019 |
| CRLF1 | 2 | Jun 24, 2020 |
| CUL7 | 6 | Jun 24, 2020 |
| DCAF17 | 1 | May 21, 2019 |
| DENND11 | 1 | Jan 18, 2019 |
| NKX3-2 | 1 | Apr 17, 2018 |
| NPR2 | 19 | May 19, 2020 |
| OBSL1 | 3 | Dec 28, 2018 |
| PGAP3 | 1 | Apr 17, 2018 |
| SMOC1 | 1 | Dec 31, 2018 |
| SPAG8 | 4 | May 19, 2020 |
| TRPV4 | 1 | Apr 9, 2020 |
| UBE3B | 1 | Apr 28, 2020 |
| XYLT2 | 1 | Jul 9, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| 3M syndrome 1 | 9 | Jun 24, 2020 |
| Acromesomelic dysplasia 1, Maroteaux type | 19 | May 19, 2020 |
| Cold-induced sweating syndrome 1 | 2 | Jun 24, 2020 |
| Hyperphosphatasia with intellectual disability syndrome 4 | 1 | Apr 17, 2018 |
| Joint dislocation | 1 | Jun 23, 2020 |
| Metatropic dysplasia | 1 | Apr 9, 2020 |
| Microphthalmia with limb anomalies | 1 | Dec 31, 2018 |
| Oculocerebrofacial syndrome, Kaufman type | 1 | Apr 28, 2020 |
| Sengers syndrome | 1 | Jan 18, 2019 |
| Short stature | 1 | Jun 23, 2020 |
| Spondylo-megaepiphyseal-metaphyseal dysplasia | 1 | Apr 17, 2018 |
| Spondylo-ocular syndrome | 1 | Jul 9, 2018 |
| Ullrich congenital muscular dystrophy 1A | 1 | May 29, 2019 |
| Woodhouse-Sakati syndrome | 1 | May 21, 2019 |