Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades (CHU Paris - Hôpital Necker-Enfants Malades)
General information
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades
CHU Paris - Hôpital Necker-Enfants Malades
149 rue de Sèvres
Paris
Ile-de-France
France - 75015
http://hopital-necker.aphp.fr/genetique-medicale/
Organization ID: 506483
CHU Paris - Hôpital Necker-Enfants Malades
149 rue de Sèvres
Paris
Ile-de-France
France - 75015
http://hopital-necker.aphp.fr/genetique-medicale/
Organization ID: 506483
Personnel
- Jean-Paul Bonnefont, Lab Director
Phone: +331 44 49 51 64
Email: jean-paul.bonnefont@aphp.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 49
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| FARS2 | 5 | Dec 12, 2019 |
| GFM1 | 11 | Jun 19, 2019 |
| KCNB1 | 32 | Apr 23, 2020 |
| LOC126859565 | 1 | Dec 12, 2019 |
| POLD1 | 1 | May 4, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Combined oxidative phosphorylation defect type 14 | 5 | Dec 12, 2019 |
| Early infantile epileptic encephalopathy with suppression bursts | 4 | Apr 23, 2020 |
| Epileptic encephalopathy | 19 | Apr 12, 2019 |
| Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 | 11 | Jun 19, 2019 |
| Intellectual disability | 7 | May 4, 2021 |
| developmental encephalopathy with epilepsy | 3 | Apr 23, 2020 |