Department of Genetics (CHU d'Angers)
General information
Department of Genetics
CHU d'Angers
4 rue Larrey
Angers
Pays de la Loire
France - 49333
https://www.chu-angers.fr
Organization ID: 508258
CHU d'Angers
4 rue Larrey
Angers
Pays de la Loire
France - 49333
https://www.chu-angers.fr
Organization ID: 508258
Personnel
- Alban Ziegler, Medical Director
Phone: +16469341479
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 23
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ALPK1 | 1 | Oct 25, 2024 |
| DOHH | 7 | Sep 23, 2021 |
| HCN2 | 13 | Feb 8, 2024 |
| LOC129391015 | 2 | Feb 8, 2024 |
| LOC129931031 | 1 | Oct 21, 2022 |
| SLC30A7 | 2 | Oct 21, 2022 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| DOHH related neurodevelopmental disorder | 7 | Sep 23, 2021 |
| Decreased testicular size | 1 | Oct 21, 2022 |
| HCN2 related developmental and epileptic encephalopathy | 13 | Feb 8, 2024 |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | 1 | Oct 25, 2024 |
| Testicular atrophy | 1 | Oct 21, 2022 |