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 |