Unité médicale des maladies autoinflammatoires (CHRU Montpellier)
General information
Personnel
- Isabelle Touitou
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 638
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| CYLD-AS1 | 3 | Jun 7, 2010 |
| IL1RN | 4 | Apr 3, 2010 |
| KIR3DL1 | 1 | Jun 7, 2010 |
| LOC126862264 | 49 | Jun 7, 2010 |
| LPIN2 | 7 | Jun 7, 2010 |
| MEFV | 150 | Jun 7, 2010 |
| MMAB | 1 | Apr 3, 2010 |
| MVK | 91 | Jun 7, 2010 |
| NCR1 | 69 | Jun 7, 2010 |
| NLRP12 | 8 | Jun 7, 2010 |
| NLRP3 | 98 | Sep 9, 2011 |
| NLRP7 | 111 | Jun 7, 2010 |
| NOD2 | 80 | Jun 7, 2010 |
| PSTPIP1 | 3 | Jun 7, 2010 |
| TNFRSF1A | 86 | Dec 12, 2011 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Blau syndrome | 80 | Jun 7, 2010 |
| Familial Mediterranean fever | 150 | Jun 7, 2010 |
| Familial cold autoinflammatory syndrome 1 | 98 | Sep 9, 2011 |
| Hydatidiform mole, recurrent, 1 | 111 | Jun 7, 2010 |
| Hyperimmunoglobulin D with periodic fever | 91 | Jun 7, 2010 |
| Majeed syndrome | 7 | Jun 7, 2010 |
| Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | 3 | Jun 7, 2010 |
| TNF receptor-associated periodic fever syndrome (TRAPS) | 85 | Jun 28, 2011 |
| not provided | 13 | Dec 12, 2011 |