Autoinflammatory diseases unit (CHU de Montpellier), UMAI
General information
Autoinflammatory diseases unit, UMAI
CHU de Montpellier
371 Avenue du Doyen Gaston Giraud
Montpellier
Languedoc-Roussillon
France - 34090
https://umai-montpellier.fr/
Organization ID: 507272
CHU de Montpellier
371 Avenue du Doyen Gaston Giraud
Montpellier
Languedoc-Roussillon
France - 34090
https://umai-montpellier.fr/
Organization ID: 507272
Personnel
- Mouna BARAT, Lab Associate Director
Phone: +33467336152
Email: [email protected] - Nathalie RUIZ, Contact
Phone: +33467335941
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 243
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ANKRD11 | 24 | Oct 24, 2024 |
| ARID1B | 4 | Jul 22, 2020 |
| BMP2 | 1 | Oct 3, 2024 |
| CHD7 | 7 | Jul 22, 2020 |
| COL10A1 | 2 | Oct 24, 2024 |
| COL11A1 | 16 | Oct 24, 2024 |
| COL1A1 | 13 | Oct 24, 2024 |
| COL1A2 | 6 | Oct 24, 2024 |
| CREBBP | 3 | Jul 22, 2020 |
| DUSP29 | 1 | Jul 22, 2020 |
| DVL1 | 1 | Jul 22, 2020 |
| EFTUD2 | 1 | Jul 22, 2020 |
| EHMT1 | 1 | Jul 22, 2020 |
| EP300 | 1 | Jul 22, 2020 |
| IRF6 | 3 | Jul 22, 2020 |
| KANSL1 | 1 | Jul 22, 2020 |
| KAT6B | 1 | Jul 22, 2020 |
| KDM5C | 1 | Jul 22, 2020 |
| KDM6A | 13 | Jul 22, 2020 |
| KMT2A | 3 | Jul 22, 2020 |
| KMT2D | 115 | Jul 22, 2020 |
| LOC115308161 | 1 | Jul 22, 2020 |
| LOC121740638 | 2 | Jul 22, 2020 |
| LOC126861520 | 3 | Jul 22, 2020 |
| LOC126862586 | 1 | Oct 24, 2024 |
| LOC129929114 | 1 | Jul 22, 2020 |
| MASP1 | 1 | Jul 22, 2020 |
| MED13L | 2 | Jul 22, 2020 |
| MID1 | 1 | Jul 22, 2020 |
| NIPBL | 1 | Jul 22, 2020 |
| NT5DC1 | 2 | Oct 24, 2024 |
| PHF6 | 1 | Jul 22, 2020 |
| SATB2 | 1 | Jul 22, 2020 |
| SETD5 | 5 | Jul 22, 2020 |
| SMARCA2 | 3 | Jul 22, 2020 |
| SMARCA4 | 1 | Jul 22, 2020 |
| SNRPB | 2 | Jul 22, 2020 |
| TBX1 | 1 | Jul 22, 2020 |
| TCOF1 | 3 | Jul 22, 2020 |
| TFAP2A | 4 | Jul 22, 2020 |
| TFAP2A-AS2 | 2 | Jul 22, 2020 |
| TTC36-AS1 | 1 | Jul 22, 2020 |