ISTH-SSC Genomics in Thrombosis and Hemostasis (KU Leuven, Center for Molecular and Vascular Biology), ISTH-SSC GinTH
General information
ISTH-SSC Genomics in Thrombosis and Hemostasis, ISTH-SSC GinTH
KU Leuven, Center for Molecular and Vascular Biology
Leuven
Belgium
https://www.isth.org/members/group.aspx?id=104628
Organization ID: 507739
KU Leuven, Center for Molecular and Vascular Biology
Leuven
Belgium
https://www.isth.org/members/group.aspx?id=104628
Organization ID: 507739
Personnel
- Kathleen Freson, Principal Investigator
Phone: +32 16 32 27 07
Email: kathleen.freson@med.kuleuven.be - Karyn Megy, Coordinator
Phone: 00441223588009
Email: km369@medschl.cam.ac.uk
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 916
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCG5 | 11 | Sep 1, 2022 |
| ABCG8 | 6 | Sep 1, 2022 |
| ACTB | 3 | Sep 1, 2022 |
| ACTN1 | 29 | Jul 5, 2023 |
| ADAMTS13 | 8 | Jul 5, 2023 |
| ANKRD26 | 15 | Jul 5, 2023 |
| AP3B1 | 2 | May 11, 2022 |
| AP3D1 | 3 | Sep 1, 2022 |
| BLOC1S3 | 1 | Sep 1, 2022 |
| CP | 2 | Sep 1, 2022 |
| CYCS | 8 | Sep 1, 2022 |
| DIAPH1 | 1 | Sep 2, 2022 |
| DYNC2LI1 | 8 | Sep 1, 2022 |
| EFCAB13-DT | 4 | Jul 5, 2023 |
| ETV6 | 9 | Jul 5, 2023 |
| F10 | 17 | Jul 5, 2023 |
| F10-AS1 | 5 | Jul 5, 2023 |
| F11 | 34 | Jul 5, 2023 |
| F11-AS1 | 8 | Jul 5, 2023 |
| F12 | 5 | Jul 5, 2023 |
| F13A1 | 6 | Jul 5, 2023 |
| F13B | 2 | Jul 5, 2023 |
| F2 | 6 | Sep 1, 2022 |
| F5 | 23 | Jul 5, 2023 |
| F7 | 37 | Jul 5, 2023 |
| F8 | 26 | Jul 5, 2023 |
| F9 | 12 | Jul 5, 2023 |
| FERMT3 | 1 | Sep 1, 2022 |
| FGA | 8 | Jul 5, 2023 |
| FGB | 9 | Jul 5, 2023 |
| FGG | 12 | Jul 5, 2023 |
| FLI1 | 7 | Sep 1, 2022 |
| FLNA | 7 | Jul 5, 2023 |
| GATA1 | 6 | Jul 5, 2023 |
| GFI1B | 12 | Jul 5, 2023 |
| GP1BA | 42 | Jul 6, 2023 |
| GP1BB | 24 | Jul 5, 2023 |
| GP6 | 1 | Sep 7, 2022 |
| GP9 | 7 | Jul 5, 2023 |
| HPS1 | 5 | Jul 5, 2023 |
| HPS3 | 3 | Sep 1, 2022 |
| HPS4 | 3 | Sep 7, 2022 |
| HPS5 | 5 | Jun 16, 2022 |
| HPS6 | 4 | Sep 1, 2022 |
| HRG | 6 | Sep 1, 2022 |
| HRG-AS1 | 6 | Sep 1, 2022 |
| IKZF5 | 7 | Sep 6, 2023 |
| ITGA2B | 44 | Jul 5, 2023 |
| ITGB3 | 24 | Jul 5, 2023 |
| KNG1 | 1 | Sep 1, 2022 |
| LIX1L-AS1 | 1 | May 10, 2022 |
| LOC107988032 | 1 | May 10, 2022 |
| LOC124418421 | 1 | May 10, 2022 |
| LOC126805851 | 1 | May 10, 2022 |
| LOC126806063 | 2 | Sep 7, 2022 |
| LOC126861452 | 4 | Sep 1, 2022 |
| LOC126863137 | 4 | Sep 1, 2022 |
| LOC130004578 | 1 | Jun 16, 2022 |
| LOC130005404 | 1 | Jun 16, 2022 |
| LOC130060044 | 2 | Jul 6, 2023 |
| LOC130061043 | 1 | Apr 8, 2022 |
| LOC130061044 | 1 | May 11, 2022 |
| LYST | 12 | Sep 7, 2022 |
| MECOM | 4 | Sep 1, 2022 |
| MED12L | 3 | Jul 5, 2023 |
| MIR4685 | 1 | Jul 5, 2023 |
| MPIG6B | 1 | May 10, 2022 |
| MPL | 4 | Jul 5, 2023 |
| MYH9 | 40 | Jul 5, 2023 |
| NBEAL2 | 20 | Jul 5, 2023 |
| P2RY12 | 3 | Jul 5, 2023 |
| PI4KA | 5 | Jul 5, 2023 |
| PIGA | 1 | Apr 1, 2022 |
| PLG | 8 | Jul 5, 2023 |
| PROC | 32 | Jul 5, 2023 |
| PROS1 | 33 | Jul 5, 2023 |
| PTGS1 | 3 | Jul 5, 2023 |
| RASGRP2 | 7 | Sep 7, 2022 |
| RBM8A | 3 | May 10, 2022 |
| RUNX1 | 28 | Jul 24, 2023 |
| RUNX1-AS1 | 11 | Jul 5, 2023 |
| SEPT5-GP1BB | 24 | Jul 5, 2023 |
| SERPINC1 | 22 | Jul 5, 2023 |
| SERPIND1 | 5 | Jul 5, 2023 |
| SERPINE1 | 6 | Jul 5, 2023 |
| SLC34A1 | 2 | Sep 1, 2022 |
| SLFN14 | 5 | Sep 1, 2022 |
| SRC | 2 | Jul 5, 2023 |
| STIM1 | 6 | Sep 1, 2022 |
| TBXA2R | 5 | Sep 1, 2022 |
| TBXAS1 | 1 | Jun 16, 2022 |
| THBD | 8 | Jul 5, 2023 |
| THPO | 3 | Jul 5, 2023 |
| TUBB1 | 30 | Jul 5, 2023 |
| VKORC1 | 1 | Sep 1, 2022 |
| VPS33B | 1 | Sep 1, 2022 |
| VWF | 109 | Jul 5, 2023 |
| WAS | 14 | Jul 5, 2023 |