Genetics and Personalized Medicine (Danish Epilepsy Center)
General information
Personnel
- Allan Bayat, Principal Investigator
Phone: 005658264200
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 6
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AHDC1 | 1 | Apr 13, 2021 |
| CCDC22 | 1 | Jan 27, 2021 |
| PRICKLE2 | 4 | Mar 26, 2021 |
| PRICKLE2-AS3 | 1 | Mar 26, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome | 1 | Apr 13, 2021 |
| Ritscher-Schinzel syndrome 2 | 1 | Jan 27, 2021 |
| See cases | 4 | Mar 26, 2021 |