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 |