Genetics Department (University Hospital of Angers), CHU_dAngers
General information
Genetics Department, CHU_dAngers
University Hospital of Angers
4 rue Larrey
Angers
Pays de la Loire
France - 49333
https://www.chu-angers.fr/
Organization ID: 508110
University Hospital of Angers
4 rue Larrey
Angers
Pays de la Loire
France - 49333
https://www.chu-angers.fr/
Organization ID: 508110
Personnel
- Celine Bris, Contact
Phone: +33241355350
Email: [email protected] - estelle colin, Principal Investigator
Phone: +3324135350
Email: [email protected] - clara houdayer, Principal Investigator
Phone: +33241354806
Email: [email protected] - marine tessarech, Principal Investigator
Phone: +33241355350
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 28
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ARID2 | 24 | Mar 1, 2024 |
| LOC130007728 | 1 | Jun 3, 2021 |
| SCAF11 | 1 | Jun 3, 2021 |
| SP9 | 4 | Sep 30, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Abnormal caudate nucleus morphology | 1 | Sep 30, 2021 |
| Autistic behavior | 2 | Sep 30, 2021 |
| Coffin-Siris syndrome 6 | 24 | Mar 1, 2024 |
| Convulsive status epilepticus | 1 | Sep 30, 2021 |
| EEG abnormality | 2 | Sep 30, 2021 |
| Epileptic encephalopathy | 2 | Sep 30, 2021 |
| Epileptic spasm | 1 | Sep 30, 2021 |
| Hypotonia | 2 | Sep 30, 2021 |
| Intellectual disability | 4 | Sep 30, 2021 |