Childhood onset dystonia, chorea or related movement disorder
Gene: EPM2A

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

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:25 p.m.
Last Modified: 9 Jul 2019, 4:25 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Sources

Expert Review Red
London North GLH

Phenotypes

Myoclonic epilepsy of Lafora 1, OMIM:254780

OMIM

607566

Clinvar variants

Variants in EPM2A

Penetrance

None

Panels with this gene

History Filter Activity

26 Mar 2025, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPM2A were changed from to Myoclonic epilepsy of Lafora 1, OMIM:254780

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: EPM2A was added gene: EPM2A was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: EPM2A was set to

Childhood onset dystonia, chorea or related movement disorder Gene: EPM2A