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Early-onset Parkinson disease

Gene: EPM2A

Amber List (moderate evidence)
EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single individual reported with late onset and parkinsonism as part of the presentation.
Created: 20 Jul 2022, 12:18 a.m. | Last Modified: 20 Jul 2022, 12:18 a.m.
Panel Version: 0.193

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780

Created: 20 Jul 2022, 12:18 a.m.
Last Modified: 20 Jul 2022, 12:18 a.m.
Panel version: 0.193

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 3:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780

Publications

Created: 17 Jul 2022, 3:40 p.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780
  • Progressive Myoclonic Epilepsy
  • Parkinsonism
OMIM
607566
Clinvar variants
Variants in EPM2A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Apr 2024, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: EPM2A were set to PMID: 27574708

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: epm2a has been classified as Amber List (Moderate Evidence).

20 Jul 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: EPM2A were changed from Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780 to Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780; Progressive Myoclonic Epilepsy; Parkinsonism

20 Jul 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: epm2a has been classified as Amber List (Moderate Evidence).

17 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: EPM2A was added gene: EPM2A was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to PMID: 27574708 Phenotypes for gene: EPM2A were set to Lafora disease; Progressive Myoclonic Epilepsy; Parkinsonism; OMIM 254780 Review for gene: EPM2A was set to GREEN