EPM2A - Gene browser | 3billion

EPM2A

EPM2A

EPM2A glucan phosphatase, laforin

HCNC Approved Symbol: EPM2A (HGNC:3413)
Genomic Coordinates: 6:145,383,353 - 145,736,023 (6q24.3)
Synonyms: LDE, LD
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the EPM2A gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

01
Patient count

Myoclonic epilepsy: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

EPM2A - Gene browser | 3billion