Birmingham Platelet Group, Institute of Cardiovascular Science (College of Medical and Dental Science, University of Birmingham)
General information
Birmingham Platelet Group, Institute of Cardiovascular Science
College of Medical and Dental Science, University of Birmingham
Edgbaston
Birmingham
United Kingdom - B152TT
https://www.birmingham.ac.uk/research/cardiovascular-sciences/index.aspx
Organization ID: 500276
College of Medical and Dental Science, University of Birmingham
Edgbaston
Birmingham
United Kingdom - B152TT
https://www.birmingham.ac.uk/research/cardiovascular-sciences/index.aspx
Organization ID: 500276
Personnel
- Ibrahim Almazni, Research Nurse
Phone: +447708957856
Email: iaa790@student.bham.ac.uk
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 134
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCG5 | 1 | Sep 19, 2020 |
| ABCG8 | 1 | Sep 19, 2020 |
| ACTN1 | 1 | Sep 19, 2020 |
| ACVRL1 | 2 | Sep 19, 2020 |
| ADAMTS13 | 2 | Sep 19, 2020 |
| ANKRD26 | 1 | Sep 19, 2020 |
| AP3B1 | 1 | Sep 19, 2020 |
| AP3D1 | 2 | Sep 19, 2020 |
| ARPC1B | 1 | Sep 19, 2020 |
| COL5A1 | 4 | Sep 19, 2020 |
| COL5A2 | 2 | Sep 19, 2020 |
| CYCS | 1 | Sep 19, 2020 |
| DYNC2LI1 | 1 | Sep 19, 2020 |
| ETV6 | 2 | Sep 19, 2020 |
| F10 | 3 | Sep 19, 2020 |
| F11 | 1 | Sep 19, 2020 |
| F13A1 | 1 | Sep 19, 2020 |
| F5 | 2 | Sep 19, 2020 |
| F7 | 1 | Sep 19, 2020 |
| F8 | 1 | Sep 19, 2020 |
| FGA | 1 | Sep 19, 2020 |
| FGB | 1 | Sep 19, 2020 |
| FGG | 1 | Sep 19, 2020 |
| FLI1 | 1 | Sep 19, 2020 |
| FLNA | 1 | Sep 19, 2020 |
| GBA1 | 4 | Sep 19, 2020 |
| GFI1B | 1 | Sep 19, 2020 |
| GGCX | 2 | Sep 19, 2020 |
| GP1BA | 4 | Sep 19, 2020 |
| GP6 | 1 | Sep 19, 2020 |
| HOXA11 | 1 | Sep 19, 2020 |
| HPS3 | 1 | Sep 19, 2020 |
| HPS5 | 1 | Sep 19, 2020 |
| HPS6 | 1 | Sep 19, 2020 |
| HRG | 1 | Sep 19, 2020 |
| HRG-AS1 | 1 | Sep 19, 2020 |
| ITGA2B | 1 | Sep 19, 2020 |
| ITGB3 | 2 | Sep 19, 2020 |
| KLKB1 | 1 | Sep 19, 2020 |
| LOC101448202 | 1 | Sep 19, 2020 |
| LOC106627981 | 3 | Sep 19, 2020 |
| LOC107126281 | 1 | Sep 19, 2020 |
| LOC126861451 | 1 | Sep 19, 2020 |
| LOC130000295 | 1 | Sep 19, 2020 |
| LOC130004578 | 1 | Sep 19, 2020 |
| LOC130005404 | 1 | Sep 19, 2020 |
| LOC130009564 | 1 | Sep 19, 2020 |
| LOC130060044 | 1 | Sep 19, 2020 |
| LPA | 1 | Sep 19, 2020 |
| LYST | 3 | Sep 19, 2020 |
| MCFD2 | 2 | Sep 19, 2020 |
| MECOM | 2 | Sep 19, 2020 |
| MED12L | 2 | Sep 19, 2020 |
| MPIG6B | 2 | Sep 19, 2020 |
| MPL | 3 | Sep 19, 2020 |
| MYH9 | 2 | Sep 19, 2020 |
| NBEA | 1 | Sep 19, 2020 |
| NBEAL2 | 6 | Sep 19, 2020 |
| P2RY12 | 2 | Sep 19, 2020 |
| PCID2 | 1 | Sep 19, 2020 |
| PLAT | 2 | Sep 19, 2020 |
| PLG | 1 | Sep 19, 2020 |
| PROS1 | 1 | Sep 19, 2020 |
| PROZ | 1 | Sep 19, 2020 |
| PTPN11 | 1 | Sep 19, 2020 |
| RASGRP2 | 2 | Sep 19, 2020 |
| RUNX1 | 12 | Sep 19, 2020 |
| RUNX1-AS1 | 5 | Sep 19, 2020 |
| SERPINC1 | 1 | Sep 19, 2020 |
| SLC45A2 | 1 | Sep 19, 2020 |
| SLFN14 | 5 | Sep 19, 2020 |
| SMAD4 | 2 | Sep 19, 2020 |
| STXBP2 | 3 | Sep 19, 2020 |
| TBXAS1 | 1 | Sep 19, 2020 |
| THBD | 5 | Sep 19, 2020 |
| THPO | 1 | Sep 19, 2020 |
| TPM4 | 1 | Sep 19, 2020 |
| TUBB1 | 5 | Sep 19, 2020 |
| VPS33B | 2 | Sep 19, 2020 |
| VWF | 6 | Sep 19, 2020 |
| WAS | 1 | Sep 19, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal bleeding | 134 | Sep 19, 2020 |
| Thrombocytopenia | 134 | Sep 19, 2020 |