Division of Medical Genetics (Sainte-Justine Hospital)
General information
Personnel
- Philippe Campeau
Email: p.campeau@umontreal.ca - Bettina Mucha
Email: bettina.elizabe.mucha-le.ny@umontreal.ca
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 18
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| TBC1D24 | 18 | Dec 22, 2014 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss 65 | 1 | Dec 22, 2014 |
| Autosomal recessive nonsyndromic hearing loss 86 | 2 | Dec 22, 2014 |
| DOORS syndrome | 8 | Dec 22, 2014 |
| Developmental and epileptic encephalopathy, 16 | 3 | Dec 22, 2014 |
| Epilepsy, progressive myoclonic, 1B | 1 | Dec 22, 2014 |
| Familial infantile myoclonic epilepsy | 3 | Dec 22, 2014 |