Curation EPM1 CSTB

Gene CSTB
Disease EPM1
Inheritance AR
Score

12 + 3 = 15 / 18

Genetic + experimental = total
Classification
0
18
Refuted
Moderate
Definitive
Last Updated 06/16/2020
Pubs Reviewed 4
Publication Span 10 years
Publication Interval 10 years
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

All criTRia Curations Locus Page

Genetic evidence

Total: 12

No genetic evidence details available.

Experimental evidence

Total: 3

No experimental evidence details available.

Maximum score caps apply at evidence type, category, and supercategory levels, so section totals may be lower than the raw sum of row scores.