Tianjin Key Laboratory of Birth Defects for Prevention and Treatment (Tianjin Children’s Hospital), TJKLBDPT
General information
Personnel
- Yan Dong, Staff
Phone: 18229011090
Email: [email protected] - Weiran Li, Staff
Phone: 18920196996
Email: [email protected] - Jianbo Shu, Lab Director
Phone: 13752250723
Email: [email protected] - Jie Zheng, Staff
Phone: 022-87787860
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 10
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cerebral cavernous malformation 3 | 1 | Jun 30, 2022 |
| Cleidocranial dysostosis | 1 | Jul 6, 2021 |
| Duchenne muscular dystrophy | 1 | Jun 30, 2022 |
| Epilepsy, familial focal, with variable foci 1 | 1 | Nov 23, 2021 |
| Homocystinuria due to methylene tetrahydrofolate reductase deficiency | 2 | Nov 13, 2023 |
| Microcephaly 9, primary, autosomal recessive | 2 | Apr 14, 2022 |
| Nuerodevelopment disorder | 1 | Feb 27, 2023 |
| Seckel syndrome 5 | 2 | Apr 14, 2022 |
| Spinal muscular atrophy, type II | 1 | Aug 25, 2024 |