Department of Genetic, Henri Mondor Hospital (Assistance Publique des Hôpitaux de Paris), Genetic_Mondor
General information
Personnel
- Lamisse mansour-hendili, Principal Investigator
Phone: 0033149812863
Email: lamisse.mansour-hendili@aphp.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 36
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ABCG5 | 1 | Feb 27, 2018 |
| ABCG8 | 1 | Feb 27, 2018 |
| ANK1 | 9 | Oct 20, 2021 |
| C3 | 1 | Feb 27, 2018 |
| CD46 | 1 | Feb 27, 2018 |
| G6PD | 1 | Feb 27, 2018 |
| HSALR1 | 1 | Feb 27, 2018 |
| LOC124153154 | 1 | Feb 27, 2018 |
| LOC126860368 | 1 | Feb 27, 2018 |
| LOC126860369 | 1 | Feb 27, 2018 |
| PIEZO1 | 1 | Feb 27, 2018 |
| PLEKHG3 | 2 | Feb 27, 2018 |
| SLC4A1 | 6 | Feb 27, 2018 |
| SLC5A6 | 1 | Jul 3, 2023 |
| SPTA1 | 6 | Feb 27, 2018 |
| SPTB | 9 | Feb 27, 2018 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Familial hemolytic anemia | 12 | Feb 27, 2018 |
| Hereditary spherocytosis type 1 | 9 | Oct 20, 2021 |
| Hereditary spherocytosis type 2 | 6 | Feb 27, 2018 |
| Hereditary spherocytosis type 3 | 2 | Feb 27, 2018 |
| Hereditary spherocytosis type 4 | 6 | Feb 27, 2018 |
| Neurodegeneration, infantile-onset, biotin-responsive | 1 | Jul 3, 2023 |