Hacettepe Pediatric Genetics Laboratory
(Hacettepe University), HPEDGEN
General information
Hacettepe Pediatric Genetics Laboratory, HPEDGEN
Hacettepe University
Ihsan Dogramaci Children's Hospital
Ankara
Turkey - 06230
Organization ID: 508420
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 25
Gene
| Gene | Submissions | Last Updated |
|---|
| BMPER | 1 | Jan 30, 2024 |
| COL1A1 | 1 | Mar 21, 2023 |
| COL2A1 | 1 | Mar 10, 2022 |
| COMP | 2 | Apr 15, 2024 |
| CRIPT | 1 | Mar 9, 2022 |
| DDR2 | 2 | Feb 24, 2022 |
| DYM | 3 | Aug 8, 2023 |
| EXOC6B | 1 | Jan 26, 2022 |
| LIFR | 1 | Mar 11, 2022 |
| LOC123493284 | 1 | Mar 5, 2024 |
| LOC126653398 | 1 | Dec 4, 2023 |
| MATN3 | 1 | Apr 15, 2024 |
| NPR3 | 1 | Mar 5, 2024 |
| PTCH1 | 2 | Jul 8, 2022 |
| SLC6A9 | 1 | Jun 13, 2022 |
| TP63 | 4 | Jan 28, 2023 |
| TSPEAR | 1 | Dec 4, 2023 |
| TSPEAR-AS1 | 1 | Dec 4, 2023 |
| XPC | 1 | Mar 1, 2022 |
| ZBTB20 | 1 | Sep 21, 2023 |
Condition
| Name | Submissions | Last Updated | | Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome | 2 | Jan 28, 2023 |
| Atypical glycine encephalopathy | 1 | Jun 13, 2022 |
| Boudin-Mortier syndrome | 1 | Mar 5, 2024 |
| Diaphanospondylodysostosis | 1 | Jan 30, 2024 |
| Dyggve-Melchior-Clausen syndrome | 3 | Aug 8, 2023 |
| Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis | 1 | Dec 4, 2023 |
| Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | 1 | Jan 25, 2023 |
| Gorlin syndrome | 2 | Jul 8, 2022 |
| Multiple epiphyseal dysplasia type 1 | 2 | Apr 15, 2024 |
| Multiple epiphyseal dysplasia type 5 | 1 | Apr 15, 2024 |
| Osteogenesis imperfecta type III | 1 | Mar 21, 2023 |
| Primrose syndrome | 1 | Sep 21, 2023 |
| Rothmund-Thomson syndrome, type 3 | 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 |
