Hacettepe Pediatric Genetics Laboratory (Hacettepe University), HPEDGEN
General information
Personnel
- Pelin Simsek Kiper, Staff
Phone: 00903123051173
Email: pelinozlemkiper@hacettepe.edu.tr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 20
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 2 | Jan 28, 2023 |
| Atypical glycine encephalopathy | 1 | Jun 13, 2022 |
| Diaphanospondylodysostosis | 1 | Jan 30, 2024 |
| Dyggve-Melchior-Clausen syndrome | 3 | Aug 8, 2023 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 | Jan 25, 2023 |
| Gorlin syndrome | 2 | Jul 8, 2022 |
| Osteogenesis imperfecta type III | 1 | Mar 21, 2023 |
| Primrose syndrome | 1 | Sep 21, 2023 |
| Short stature with microcephaly and distinctive facies | 1 | Mar 9, 2022 |
| Spondyloepimetaphyseal dysplasia with joint laxity, type 3 | 1 | Jan 26, 2022 |
| Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | 2 | Feb 24, 2022 |
| Spondyloepiphyseal dysplasia congenita | 1 | Mar 10, 2022 |
| Stüve-Wiedemann syndrome 1 | 1 | Mar 11, 2022 |
| TP63-related ectodermal dysplasia | 1 | Jan 27, 2023 |
| Xeroderma pigmentosum, group C | 1 | Mar 1, 2022 |