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: 28
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BICC1 | 1 | May 14, 2024 |
| CHD8 | 1 | Aug 26, 2024 |
| CLCN2 | 1 | Jul 15, 2024 |
| CRB1 | 1 | Aug 27, 2024 |
| CSRP3 | 1 | Jun 23, 2024 |
| DNMT3A | 1 | Aug 26, 2024 |
| EXT1 | 1 | Apr 14, 2024 |
| FBN1 | 2 | Jun 23, 2024 |
| JAG1 | 1 | Jul 15, 2024 |
| LDB3 | 1 | Jun 23, 2024 |
| LOC126861898 | 1 | Apr 17, 2024 |
| MEN1 | 1 | Jun 23, 2024 |
| MIB1 | 1 | Aug 27, 2024 |
| MYBPC3 | 1 | May 14, 2024 |
| MYH6 | 1 | May 14, 2024 |
| MYH7 | 2 | Jun 23, 2024 |
| NDE1 | 1 | Aug 27, 2024 |
| NF1 | 1 | Sep 2, 2024 |
| NSD1 | 1 | Jul 15, 2024 |
| PIK3CA | 1 | Aug 26, 2024 |
| SLC12A3 | 1 | Jul 15, 2024 |
| SYNGAP1 | 1 | Jul 15, 2024 |
| SYNGAP1-AS1 | 1 | Jul 15, 2024 |
| TGFBR1 | 1 | Apr 17, 2024 |
| TNNI3 | 1 | Apr 17, 2024 |
| TTN | 2 | Aug 27, 2024 |
| USP9X | 1 | Jul 15, 2024 |