Laboratoire Génétique Moléculaire (CHRU TOURS), LGM-CHRU
General information
Laboratoire Génétique Moléculaire, LGM-CHRU
CHRU TOURS
2 Boulevard Tonnellé
Tours
Centre
France - 37000
https://www.chu-tours.fr/
Organization ID: 507665
CHRU TOURS
2 Boulevard Tonnellé
Tours
Centre
France - 37000
https://www.chu-tours.fr/
Organization ID: 507665
Personnel
- Antoine Civit, Administrator
Phone: +33601352350
Email: [email protected] - Marie-Pierre Moizard, Administrator
Phone: 0247479261
Email: [email protected] - Marie-Laure Winter, Administrator
Phone: +33670219002
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 73
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACAN | 1 | Jul 1, 2021 |
| ADSL | 2 | Jul 2, 2021 |
| ANKRD11 | 2 | Jul 2, 2021 |
| ARID1B | 1 | Jul 1, 2021 |
| BRWD3 | 1 | Jul 1, 2021 |
| CACNA1C | 1 | Jul 1, 2021 |
| CASK | 1 | Jul 1, 2021 |
| CDH15 | 1 | Jul 1, 2021 |
| CPLANE1 | 1 | Jul 2, 2021 |
| DDX3X | 1 | Jul 2, 2021 |
| DLG3 | 1 | Jul 1, 2021 |
| EIF3F | 1 | Jul 1, 2021 |
| FAM50A | 1 | Jul 1, 2021 |
| FBN1 | 2 | Jul 1, 2021 |
| FMR1 | 1 | Jul 1, 2021 |
| FOXP1 | 1 | Jul 1, 2021 |
| FRMPD4 | 2 | Jul 2, 2021 |
| FTSJ1 | 1 | Jul 2, 2021 |
| GABRB3 | 1 | Jul 1, 2021 |
| GATA3 | 1 | Jul 1, 2021 |
| GATAD2B | 1 | Jul 1, 2021 |
| GRIN2B | 3 | Jul 2, 2021 |
| HCFC1 | 1 | Jul 1, 2021 |
| IQSEC2 | 1 | Jul 2, 2021 |
| KANSL1 | 2 | Jul 1, 2021 |
| KCNB1 | 1 | Jul 1, 2021 |
| KCNH1 | 1 | Jul 1, 2021 |
| KCNQ2 | 1 | Jul 1, 2021 |
| KDM6A | 1 | Jul 2, 2021 |
| KMT2A | 4 | Jul 2, 2021 |
| KMT2D | 1 | Jul 2, 2021 |
| MAGEL2 | 1 | Jul 1, 2021 |
| MECP2 | 4 | Jul 2, 2021 |
| NDP | 1 | Jul 1, 2021 |
| NDP-AS1 | 1 | Jul 1, 2021 |
| NIPBL | 1 | Jul 2, 2021 |
| OPHN1 | 1 | Jul 1, 2021 |
| POGZ | 2 | Jul 1, 2021 |
| SCN2A | 1 | Jul 1, 2021 |
| SCN8A | 1 | Jul 1, 2021 |
| SEMA6B | 1 | Jan 18, 2022 |
| SETD2 | 1 | Jul 1, 2021 |
| SETD5 | 1 | Jul 2, 2021 |
| SHANK2 | 1 | Jul 1, 2021 |
| SHANK3 | 1 | Jul 1, 2021 |
| SLC2A1 | 1 | Jul 1, 2021 |
| SLC6A1 | 1 | Jul 1, 2021 |
| SMS | 1 | Sep 4, 2024 |
| SPTAN1 | 1 | Jul 1, 2021 |
| STAC3 | 1 | May 23, 2022 |
| STXBP1 | 2 | Jul 2, 2021 |
| SYNGAP1 | 1 | Jul 1, 2021 |
| TBC1D24 | 2 | Jul 1, 2021 |
| TLK2 | 1 | Jul 1, 2021 |
| TRIP12 | 1 | Jul 1, 2021 |
| USP9X | 1 | Jul 1, 2021 |
| VPS51 | 1 | Jul 1, 2021 |
| ZEB2 | 2 | Jul 2, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Bailey-Bloch congenital myopathy | 1 | May 23, 2022 |
| Syndromic X-linked intellectual disability Snyder type | 1 | Sep 4, 2024 |
| not provided | 71 | Jan 18, 2022 |