Genetics of Mitochondrial Diseases (Imagine Institute)
General information
Personnel
- Metodi Metodiev, Staff
Phone: +33142754395
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 2
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| EME2 | 1 | Jul 5, 2017 |
| KARS1 | 1 | Sep 6, 2018 |
| LOC126862402 | 1 | Sep 6, 2018 |
| LOC130058184 | 1 | Jul 5, 2017 |
| MRPS34 | 1 | Jul 5, 2017 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Global developmental delay | 1 | Sep 6, 2018 |
| Hypotonia | 1 | Sep 6, 2018 |
| Lactic acidosis | 1 | Sep 6, 2018 |
| Leigh syndrome | 1 | Jul 5, 2017 |
| Sensorineural hearing loss disorder | 1 | Sep 6, 2018 |