Laboratoire de Genetique Moleculaire (Centre Hospitalier Universitaire de Bordeaux)
General information
Personnel
- Perrine Pennamen, Contact
Phone: +33557820958
Email: perrine.pennamen@chu-bordeaux.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 17
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| ALDH18A1-related de Barsy syndrome | 1 | Aug 1, 2019 |
| Albinism | 3 | Jun 29, 2020 |
| Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome | 2 | Jul 10, 2020 |
| Bilateral cleft lip and palate | 1 | Jul 26, 2018 |
| Duane retraction syndrome 2 | 1 | Aug 21, 2018 |
| Epileptic encephalopathy | 1 | Jun 29, 2018 |
| Episodic ataxia type 2 | 1 | Jun 29, 2018 |
| Gait ataxia | 1 | Jun 29, 2018 |
| Heart, malformation of | 1 | Jul 26, 2018 |
| Hermansky-Pudlak syndrome | 2 | May 5, 2020 |
| Hermansky-Pudlak syndrome 8 | 3 | Jun 15, 2020 |
| Ichthyosis | 1 | Jun 12, 2018 |
| Intellectual disability | 1 | Jul 6, 2020 |
| Phocomelia | 1 | Jul 26, 2018 |
| Polydactyly | 1 | Jul 26, 2018 |
| Spastic paraplegia | 1 | Nov 20, 2020 |