Simons Lab (The University of Queensland), IMB-CS
General information
Personnel
- Cas Simons, Principal Investigator
Phone: +61733462080
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 12
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Alexander disease | 1 | Jan 22, 2020 |
| Developmental and epileptic encephalopathy, 29 | 6 | Jun 11, 2021 |
| Leigh syndrome | 1 | May 19, 2014 |
| Leukodystrophy | 3 | Sep 4, 2019 |
| Mitochondrial complex I deficiency | 1 | Apr 25, 2020 |