Regional Center For Medical Genetics Timis (Louis Turcanu Emergency Hospital for Children Timisoara)
General information
Regional Center For Medical Genetics Timis
Louis Turcanu Emergency Hospital for Children Timisoara
Timisoara
Timis
Romania
https://www.spital-copii-timisoara.info/sectii/alte-compartimenteactivitati/centrul-regional-de-genetica-medicala-timis
Organization ID: 509528
Louis Turcanu Emergency Hospital for Children Timisoara
Timisoara
Timis
Romania
https://www.spital-copii-timisoara.info/sectii/alte-compartimenteactivitati/centrul-regional-de-genetica-medicala-timis
Organization ID: 509528
Personnel
- Adela Chirita-Emandi, Variant scientist/curator
Phone: 0040732890505
Email: adela.chirita@umft.ro - Catalin Munteanu, Variant scientist/curator
Phone: 0040732890505
Email: catalin.munteanu@umft.ro - Maria Puiu, Coordinator
Phone: 0040732890505
Email: maria_puiu@umft.ro
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 20
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alagille syndrome due to a JAG1 point mutation | 1 | Jul 15, 2024 |
| Dilated cardiomyopathy 1C | 1 | Jun 23, 2024 |
| Dilated cardiomyopathy 1EE | 1 | May 14, 2024 |
| Dilated cardiomyopathy 1FF | 1 | Apr 17, 2024 |
| Dilated cardiomyopathy 1G | 1 | Jun 28, 2024 |
| Epilepsy, idiopathic generalized, susceptibility to, 11 | 1 | Jul 15, 2024 |
| Exostoses, multiple, type 1 | 1 | Apr 14, 2024 |
| Familial hypokalemia-hypomagnesemia | 1 | Jul 15, 2024 |
| Hypertrophic cardiomyopathy 1 | 2 | Jun 23, 2024 |
| Hypertrophic cardiomyopathy 12 | 1 | Jun 23, 2024 |
| Hypertrophic cardiomyopathy 4 | 1 | May 14, 2024 |
| Intellectual disability, X-linked 99, syndromic, female-restricted | 1 | Jul 15, 2024 |
| Intellectual disability, autosomal dominant 5 | 1 | Jul 15, 2024 |
| Loeys-Dietz syndrome 1 | 1 | Apr 17, 2024 |
| Marfan syndrome | 2 | Jun 23, 2024 |
| Multiple endocrine neoplasia, type 1 | 1 | Jun 23, 2024 |
| Renal dysplasia, cystic, susceptibility to | 1 | May 14, 2024 |
| Sotos syndrome | 1 | Jul 15, 2024 |