Unidade de Eritropatologia e Metabolismo do Ferro (Centro Hospitalar e Universitário de Coimbra)
General information
Unidade de Eritropatologia e Metabolismo do Ferro
Centro Hospitalar e Universitário de Coimbra
Hospital Pediátrico
Coimbra
Portugal - 3000-602
http://chuc-hematologiaclinica.org/
Organization ID: 507319
Centro Hospitalar e Universitário de Coimbra
Hospital Pediátrico
Coimbra
Portugal - 3000-602
http://chuc-hematologiaclinica.org/
Organization ID: 507319
Personnel
- Celeste Bento, Principal Investigator
Phone: +351964455227
Email: celeste.bento@chuc.min-saude.pt
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 5
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| HBA2 | 1 | Dec 26, 2019 |
| HBB | 2 | May 22, 2020 |
| HBG2 | 1 | Dec 5, 2019 |
| HSALR1 | 1 | Mar 24, 2020 |
| LOC106099062 | 2 | May 22, 2020 |
| LOC106099065 | 1 | Dec 5, 2019 |
| LOC106804612 | 1 | Dec 26, 2019 |
| LOC107133510 | 2 | May 22, 2020 |
| PIEZO1 | 1 | Mar 24, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cyanosis, transient neonatal | 1 | Dec 5, 2019 |
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Mar 24, 2020 |
| Erythrocytosis, familial, 6 | 2 | May 22, 2020 |
| alpha Thalassemia | 1 | Dec 26, 2019 |