UOS Fisiopatologia delle Anemie (Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano)
General information
UOS Fisiopatologia delle Anemie
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano
via Sforza, 35
Milan
Lombardia
Italy - 20122
https://www.policlinico.mi.it/
Organization ID: 507732
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano
via Sforza, 35
Milan
Lombardia
Italy - 20122
https://www.policlinico.mi.it/
Organization ID: 507732
Personnel
- Paola Bianchi, Staff
Phone: 00390255033471
Email: [email protected] - Elisa Fermo, Staff
Phone: 003955033471
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 23
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema | 1 | Sep 29, 2020 |
| Hemolytic anemia due to hexokinase deficiency | 2 | Jan 15, 2021 |
| Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency | 1 | Jan 15, 2021 |
| Hereditary spherocytosis type 1 | 3 | Jan 15, 2021 |
| Hereditary spherocytosis type 2 | 6 | Jan 15, 2021 |
| Hereditary spherocytosis type 3 | 1 | Jan 15, 2021 |
| Hereditary spherocytosis type 4 | 3 | Jan 15, 2021 |
| Hereditary spherocytosis type 5 | 2 | Jan 15, 2021 |
| Pyruvate kinase deficiency of red cells | 1 | Jan 15, 2021 |
| Sitosterolemia 2 | 1 | Jan 15, 2021 |
| X-linked sideroblastic anemia 1 | 2 | Jan 15, 2021 |