Muscle and Diseases Team (Institut de Génétique et Biologie Moléculaire et Cellulaire)
General information
Muscle and Diseases Team
Institut de Génétique et Biologie Moléculaire et Cellulaire
1 rue Laurent Fries
Illkirch
Alsace
France - 67404
https://www.igbmc.fr/en/recherche/teams/pathophysiology-of-neuromuscular-diseases
Organization ID: 509530
Institut de Génétique et Biologie Moléculaire et Cellulaire
1 rue Laurent Fries
Illkirch
Alsace
France - 67404
https://www.igbmc.fr/en/recherche/teams/pathophysiology-of-neuromuscular-diseases
Organization ID: 509530
Personnel
- Valérie Biancalana, Coordinator
Phone: +33369550777
Email: [email protected] - Johann Böhm, Lab Associate Director
Phone: +33388653412
Email: [email protected] - Jocelyn Laporte, Principal Investigator
Phone: +33388653412
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 156
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTA1 | 8 | Apr 16, 2024 |
| ACTN2 | 1 | Apr 16, 2024 |
| ALG14 | 2 | Apr 16, 2024 |
| ALG14-AS1 | 1 | Apr 16, 2024 |
| ASCC1 | 3 | Apr 16, 2024 |
| CACNA1S | 6 | Apr 16, 2024 |
| CASQ1 | 2 | Apr 16, 2024 |
| CAV3 | 1 | Apr 16, 2024 |
| CFL2 | 1 | Apr 16, 2024 |
| CHRNA1 | 2 | Apr 16, 2024 |
| CHRND | 1 | Apr 16, 2024 |
| COL6A2 | 1 | Apr 16, 2024 |
| DES | 1 | Apr 16, 2024 |
| DNM2 | 1 | Apr 16, 2024 |
| DPAGT1 | 1 | Apr 16, 2024 |
| EXOSC3 | 1 | Apr 16, 2024 |
| FHL1 | 1 | Apr 16, 2024 |
| FLNC | 1 | Apr 16, 2024 |
| FOXP3 | 1 | Apr 16, 2024 |
| GFPT1 | 1 | Apr 16, 2024 |
| GGPS1 | 1 | Apr 16, 2024 |
| GNE | 2 | Apr 16, 2024 |
| HNRNPA2B1 | 1 | Apr 16, 2024 |
| HNRNPDL | 1 | Apr 16, 2024 |
| HSPB8 | 1 | Apr 16, 2024 |
| IDUA | 1 | Apr 16, 2024 |
| LOC112577517 | 1 | Apr 16, 2024 |
| LOC126806420 | 1 | Apr 16, 2024 |
| LOC126806423 | 1 | Apr 16, 2024 |
| LOC126861897 | 2 | Apr 16, 2024 |
| LOC126862902 | 2 | Apr 16, 2024 |
| LOC129930989 | 1 | Apr 16, 2024 |
| LOC130008987 | 1 | Apr 16, 2024 |
| MAP3K20 | 1 | Apr 16, 2024 |
| MHRT | 3 | Apr 16, 2024 |
| MTM1 | 5 | Apr 16, 2024 |
| MYH7 | 3 | Apr 16, 2024 |
| MYO18B | 1 | Apr 16, 2024 |
| MYPN | 2 | Apr 16, 2024 |
| NEB | 24 | Apr 16, 2024 |
| OPA1 | 1 | Apr 16, 2024 |
| ORAI1 | 1 | Apr 16, 2024 |
| OXTR | 1 | Apr 16, 2024 |
| POMT1 | 2 | Apr 16, 2024 |
| PYROXD1 | 1 | Apr 16, 2024 |
| RIF1 | 8 | Apr 16, 2024 |
| RYR1 | 41 | Apr 16, 2024 |
| SGCG | 1 | Apr 16, 2024 |
| SPEG | 2 | Apr 16, 2024 |
| STIM1 | 3 | Apr 16, 2024 |
| TOR1AIP1 | 1 | Apr 16, 2024 |
| TPM2 | 1 | Apr 16, 2024 |
| TPM3 | 3 | Apr 16, 2024 |
| TRIP4 | 2 | Apr 16, 2024 |
| TTN | 15 | Apr 16, 2024 |
| TTN-AS1 | 9 | Apr 16, 2024 |
| UNC45B | 2 | Apr 16, 2024 |
| VMA21 | 1 | Apr 16, 2024 |