Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia (Imagine Institute)
General information
Personnel
- Pauline Marzin, Staff
Phone: 0632151162
Email: pauline.marzin@aphp.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 30
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ADAMTS10 | 10 | Jun 30, 2023 |
| ADAMTS17 | 5 | Jun 30, 2023 |
| FBN1 | 6 | Jun 30, 2023 |
| LOC130058037 | 1 | Jun 30, 2023 |
| ZNF462 | 9 | Mar 7, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Weill-Marchesani 4 syndrome, recessive | 5 | Jun 30, 2023 |
| Weill-Marchesani syndrome 1 | 10 | Jun 30, 2023 |
| Weill-Marchesani syndrome 2, dominant | 6 | Jun 30, 2023 |
| Weiss-kruszka syndrome | 9 | Mar 7, 2024 |