Reference Center For Rare Oral And Dental Diseases, Crmr O-rares (Hôpitaux Universitaires de Strasbourg)
General information
Reference Center For Rare Oral And Dental Diseases, Crmr O-rares
Hôpitaux Universitaires de Strasbourg
1 place de l'hôpital
Strasbourg
France - 67091
https://www.o-rares.com
Organization ID: 509012
Hôpitaux Universitaires de Strasbourg
1 place de l'hôpital
Strasbourg
France - 67091
https://www.o-rares.com
Organization ID: 509012
Personnel
- Agnes BLOCH-ZUPAN, Coordinator
Phone: +33388116911
Email: agnes.bloch-zupan@unistra.fr
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 48
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACP4 | 4 | Mar 22, 2023 |
| AMBN | 4 | Mar 22, 2023 |
| AMELX | 1 | Mar 22, 2023 |
| ARHGAP6 | 1 | Mar 22, 2023 |
| COL7A1 | 3 | Mar 22, 2023 |
| DLX3 | 3 | Mar 22, 2023 |
| ENAM | 3 | Mar 22, 2023 |
| FAM20A | 6 | Mar 23, 2023 |
| FAM83H | 4 | Mar 23, 2023 |
| KLK4 | 1 | Mar 22, 2023 |
| LAMB3 | 4 | Mar 22, 2023 |
| LAMC2 | 1 | Mar 22, 2023 |
| LOC121832793 | 1 | Mar 23, 2023 |
| LOC130065006 | 1 | Mar 22, 2023 |
| LTBP3 | 2 | Mar 23, 2023 |
| MMP20 | 4 | Mar 22, 2023 |
| PRKAR1A | 4 | Mar 23, 2023 |
| SLC10A7 | 1 | Mar 23, 2023 |
| SLC24A4 | 1 | Mar 22, 2023 |
| WDR72 | 6 | Mar 23, 2023 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Amelogenesis imperfecta - hypoplastic autosomal dominant - local | 3 | Mar 22, 2023 |
| Amelogenesis imperfecta hypomaturation type 2A2 | 4 | Mar 22, 2023 |
| Amelogenesis imperfecta hypomaturation type 2A3 | 6 | Mar 23, 2023 |
| Amelogenesis imperfecta hypomaturation type 2A5 | 1 | Mar 22, 2023 |
| Amelogenesis imperfecta type 1 | 4 | Mar 22, 2023 |
| Amelogenesis imperfecta type 1A | 4 | Mar 22, 2023 |
| Amelogenesis imperfecta type 1E | 1 | Mar 22, 2023 |
| Amelogenesis imperfecta type 1F | 4 | Mar 22, 2023 |
| Amelogenesis imperfecta type 1G | 6 | Mar 23, 2023 |
| Amelogenesis imperfecta type 2A1 | 1 | Mar 22, 2023 |
| Amelogenesis imperfecta, hypocalcification type | 4 | Mar 23, 2023 |
| Amelogenesis imperfecta, type 1J | 4 | Mar 22, 2023 |
| Brachyolmia-amelogenesis imperfecta syndrome | 2 | Mar 23, 2023 |
| Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 3 | Mar 22, 2023 |
| Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | 1 | Mar 23, 2023 |