Pediatric Department (Peking University First Hospital), PD
General information
Personnel
- Huifang Yan, Genetic Counselor
Phone: 008618811778996
Email: yanhuifang96@163.com - Yanqin Zhang, Staff
Phone: 8610 83573238
Email: yiran6666@126.com - Yuehua Zhang, Staff
Phone: +86-139-1050-6960
Email: zhangyhd@hotmail.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 56
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Actin accumulation myopathy | 2 | Apr 13, 2020 |
| Autosomal dominant centronuclear myopathy | 1 | Apr 13, 2020 |
| Central core myopathy | 4 | Feb 8, 2022 |
| Centronuclear myopathy | 4 | Apr 13, 2020 |
| Congenital multicore myopathy with external ophthalmoplegia | 11 | Feb 8, 2022 |
| Congenital myopathy with fiber type disproportion | 1 | Apr 13, 2020 |
| Developmental and epileptic encephalopathy, 17 | 8 | Feb 27, 2021 |
| Developmental and epileptic encephalopathy, 9 | 10 | Oct 13, 2022 |
| Developmental delay | 1 | Feb 27, 2021 |
| Global developmental delay | 2 | Jan 7, 2022 |
| Multiminicore myopathy | 2 | Apr 13, 2020 |
| Nemaline myopathy 2 | 2 | Apr 13, 2020 |
| Nemaline myopathy 5 | 2 | Apr 13, 2020 |
| Neurodevelopmental disorder with involuntary movements | 7 | Mar 6, 2021 |
| RYR1-related myopathy | 5 | Feb 8, 2022 |