The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder (Children’s Hospital of Fudan University)
General information
Personnel
- chaoping hu, Genetic Counselor
Phone: 8613524439064
Email: guyuehuchaoping@163.com - Xihua Li, Lab Director
Phone: 8613916130731
Email: xihual@vip.sina.com
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 27
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Batten-Turner congenital myopathy | 3 | Aug 15, 2021 |
| Beta-hydroxyisobutyryl-CoA deacylase deficiency | 2 | Mar 6, 2020 |
| Childhood encephalopathy due to thiamine pyrophosphokinase deficiency | 2 | Mar 6, 2020 |
| Combined oxidative phosphorylation defect type 27 | 1 | Mar 6, 2020 |
| Leigh syndrome | 5 | Mar 6, 2020 |
| Mitochondrial DNA depletion syndrome 13 | 1 | Mar 6, 2020 |
| Mitochondrial DNA depletion syndrome, myopathic form | 4 | Mar 6, 2020 |
| Mitochondrial encephalopathy | 1 | Jan 15, 2021 |
| Mitochondrial neurogastrointestinal encephalomyopathy | 1 | Mar 6, 2020 |
| Mitochondrial trifunctional protein deficiency | 3 | Mar 6, 2020 |
| Multiple mitochondrial dysfunctions syndrome 3 | 3 | Mar 6, 2020 |
| Succinate-semialdehyde dehydrogenase deficiency | 1 | Mar 6, 2020 |