Genetics of Infertility and Preimplantation Genetic Diagnosis (Centre Hospitalier Universitaire Grenoble Alpes), GI-DPI
General information
Genetics of Infertility and Preimplantation Genetic Diagnosis, GI-DPI
Centre Hospitalier Universitaire Grenoble Alpes
Boulevard de la Chantourne
La Tronche
France - 38043
http://www.chu-grenoble.fr/
Organization ID: 506452
Centre Hospitalier Universitaire Grenoble Alpes
Boulevard de la Chantourne
La Tronche
France - 38043
http://www.chu-grenoble.fr/
Organization ID: 506452
Personnel
- Charles Coutton, Lab Director
Phone: +33662833025
Email: [email protected] - Zine-Eddine Kherraf, Principal Investigator
Phone: +33665512266
Email: [email protected] - Pierre Ray, Lab Director
Phone: +33662296750
Email: [email protected] - Véronique Satre, Lab Associate Director
Phone: +3376768121
Email: [email protected] - Nicolas Thierry-Mieg, Informatics staff
Phone: +33651024616
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 38
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ARMC2 | 6 | Feb 6, 2019 |
| ARMC2-AS1 | 1 | Dec 18, 2018 |
| C14orf39 | 1 | Dec 21, 2021 |
| CCDC146 | 4 | Feb 14, 2024 |
| CFAP206 | 1 | Mar 18, 2021 |
| CFAP251 | 1 | Feb 7, 2019 |
| CFAP91 | 2 | Aug 21, 2019 |
| DDX25 | 1 | Dec 21, 2021 |
| DMC1 | 2 | Dec 21, 2021 |
| FAHD1 | 1 | Dec 21, 2021 |
| FANCM | 1 | Dec 21, 2021 |
| GCNA | 1 | Dec 21, 2021 |
| HENMT1 | 2 | Dec 21, 2021 |
| HFM1 | 1 | Dec 21, 2021 |
| IFT74 | 1 | Feb 12, 2021 |
| KASH5 | 1 | Dec 21, 2021 |
| LOC129937328 | 1 | Aug 21, 2019 |
| MCM8 | 1 | Dec 21, 2021 |
| MCMDC2 | 1 | Dec 21, 2021 |
| MEIOB | 1 | Dec 21, 2021 |
| MNS1 | 2 | Feb 14, 2024 |
| MOV10L1 | 1 | Dec 21, 2021 |
| MSH5 | 1 | Dec 21, 2021 |
| MSH5-SAPCD1 | 1 | Dec 21, 2021 |
| PDHA2 | 1 | Dec 21, 2021 |
| REC8 | 1 | Dec 21, 2021 |
| TDRD9 | 2 | Dec 21, 2021 |
| TDRKH | 1 | Dec 21, 2021 |
| TERB1 | 1 | Dec 21, 2021 |
| TEX9 | 1 | Feb 14, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal sperm tail morphology | 2 | Mar 18, 2021 |
| Azoospermia | 21 | Dec 21, 2021 |
| Heterotaxy, visceral, 9, autosomal, with male infertility | 2 | Feb 14, 2024 |
| Male infertility due to sperm motility disorder | 2 | Feb 14, 2024 |
| Male infertility with spermatogenesis disorder due to single gene mutation | 2 | Jan 26, 2024 |
| Male infertility with teratozoospermia due to single gene mutation | 7 | Aug 21, 2019 |
| Multiple Morphological Anomalies of Sperm Flagella (MMAF) | 1 | Feb 12, 2021 |
| Spermatogenic failure 18 | 1 | Feb 7, 2019 |