EPM1_CSTB
- Gene
- CSTB
- Disease
- EPM1
- Inheritance
- AR
- Classification
- Definitive
- Total Score
- 15
- Publications Reviewed
- 4
- Publication Span
- 10 years
- Last Updated
- 06/16/2020
- Curator(s)
- Epilepsy GCEP
Description
Disease: Unverricht-Lundborg syndrome (EPM1) https://search.clinicalgenome.org/CCID:004590. COMP has also been curated for genetic developmental and epileptic encephalopathy(MONDO:0100062) https://search.clinicalgenome.org/CCID:004591 - Classification: Moderate
Genetic evidence
Total: 12
No genetic evidence details available.
Experimental evidence
Total: 3
No experimental evidence details available.
Note: Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.