ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel (ClinGen)
FDA Recognized Database
General information
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50105/
Organization ID: 509487
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50105/
Organization ID: 509487
Expert panel documentation
Personnel
- Emily Bonkowski, Coordinator
Phone: 901-595-5487
Email: emily.bonkowski@stjude.org - Stacey Cohen, Coordinator
Phone: 267-426-6567
Email: cohens11@email.chop.edu - Ingo Helbig, Principal Investigator
Phone: 215-590-1719
Email: helbigi@chop.edu - Heather Mefford, Principal Investigator
Phone: 901-595-8791
Email: heather.mefford@stjude.org - Lacey Smith, Coordinator
Phone: 857-218-3239
Email: lacey.smith@childrens.harvard.edu
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 20
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC102724058 | 3 | Jun 18, 2024 |
| SCN1A | 5 | Jun 18, 2024 |
| SCN2A | 6 | Jun 18, 2024 |
| SCN3A | 5 | Jun 18, 2024 |
| SCN8A | 4 | Jun 18, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Complex neurodevelopmental disorder | 10 | Jun 18, 2024 |
| Early infantile epileptic encephalopathy with suppression bursts | 5 | Jun 18, 2024 |
| Severe myoclonic epilepsy in infancy | 5 | Jun 18, 2024 |