Genetics Department (University Hospital of Toulouse), SBMGC
General information
Personnel
- Marion Aubert-Mucca, Staff
Phone: +33561777505
Email: aubertmucca.m@chu-toulouse.fr - Bertrand Chesneau, Staff
Phone: +33561777505
Email: chesneau.b@chu-toulouse.fr - Cedric Le Caignec, Lab Director
Phone: +33561777399
Email: lecaignec.c@chu-toulouse.fr - Julie Plaisancie, Medical Director
Phone: +33561779051
Email: plaisancie.j@chu-toulouse.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 80
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| B3GLCT | 1 | Dec 3, 2020 |
| BMP4 | 1 | Oct 15, 2022 |
| CHD7 | 1 | Oct 15, 2022 |
| CPAMD8 | 1 | Oct 15, 2022 |
| CRYAB | 1 | Oct 15, 2022 |
| EPHA2 | 1 | Feb 16, 2022 |
| EPHA2-AS1 | 1 | Feb 16, 2022 |
| FOXC1 | 2 | Oct 15, 2022 |
| FOXE3 | 2 | Jun 13, 2017 |
| FZD4 | 1 | Dec 3, 2020 |
| FZD5 | 3 | Oct 29, 2019 |
| GJA8 | 1 | Oct 15, 2022 |
| ITPR1 | 2 | Oct 15, 2022 |
| LINC01389 | 2 | Jun 13, 2017 |
| LOC100507346 | 1 | Jun 19, 2020 |
| LOC106014249 | 1 | Aug 17, 2018 |
| LOC108281177 | 5 | Oct 15, 2022 |
| LRBA | 2 | Dec 3, 2020 |
| LTBP2 | 1 | Dec 3, 2020 |
| MAB21L2 | 2 | Dec 3, 2020 |
| MIP | 1 | Jan 17, 2023 |
| OTX2 | 2 | Oct 15, 2022 |
| PAX2 | 1 | Oct 15, 2022 |
| PAX6 | 14 | Oct 15, 2022 |
| PAX6-AS1 | 1 | Aug 17, 2018 |
| PITX2 | 2 | Oct 15, 2022 |
| PRSS23 | 1 | Dec 3, 2020 |
| PTCH1 | 1 | Jun 19, 2020 |
| PXDN | 6 | Dec 3, 2020 |
| RARB | 6 | Oct 15, 2022 |
| RBP4 | 8 | Feb 24, 2023 |
| SMAD3 | 8 | Jul 22, 2019 |
| SOX2 | 5 | Oct 15, 2022 |
| SOX2-OT | 5 | Oct 15, 2022 |
| STRA6 | 1 | Oct 15, 2022 |
| TFAP2A | 1 | Jun 19, 2020 |
| TGFB2 | 1 | Jul 22, 2019 |
| VAX1 | 1 | Oct 15, 2022 |
| YAP1 | 1 | Dec 3, 2020 |