Neurology Laboratory (National Cheng Kung University Hospital), NL
General information
Personnel
- Po-Yu Lin, Staff
Phone: +886-2353535-3894
Email: pylin1991@gmail.com - Yuan-Ting Sun, Lab Director
Phone: +886-2353535-5481
Email: ytsun@mail.ncku.edu.tw
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 7
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal recessive ataxia, Beauce type | 1 | Jul 7, 2023 |
| Charcot-Marie-Tooth disease axonal type 2CC | 1 | Aug 15, 2023 |
| Idiopathic basal ganglia calcification 1 | 1 | Aug 15, 2023 |
| Leukoencephalopathy, diffuse hereditary, with spheroids 1 | 1 | Aug 15, 2023 |
| Leukoencephalopathy, progressive, with ovarian failure | 2 | Aug 15, 2023 |
| Schwartz-Jampel syndrome | 1 | Nov 26, 2019 |