Hereditary ataxia
Gene: EPM2A

EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Lafora Epilepsy typically starts between ages 12-17, and is characterized by epilepsy (myoclonus or generalised) and progressive neurological deterioration (including dementia, ataxia), comments from Dr Arianna Tucci (Neurology, UCL).
Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported
Created: 6 Feb 2017, 12:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora) 254780

Publications

Created: 6 Feb 2017, 12:21 p.m.

Panel version: 1.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Radboud University Medical Center, Nijmegen
UKGTN
Expert Review
Emory Genetics Laboratory

Phenotypes

Myoclonic epilepsy of Lafora 1, OMIM:254780

OMIM

607566

Clinvar variants

Variants in EPM2A

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

26 Mar 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPM2A were changed from Epilepsy, progressive myoclonic 2A (Lafora) 254780 to Myoclonic epilepsy of Lafora 1, OMIM:254780

6 Feb 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EPM2A was created by sleigh

6 Feb 2017, Gel status: 3

Added New Source