Ataxia and cerebellar anomalies - childhood onset
Gene: EPM2A
EPM2A (EPM2A, laforin glucan phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000112425
EnsemblGeneIds (GRCh37): ENSG00000112425
OMIM: 607566, Gene2Phenotype
EPM2A is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Myoclonic epilepsy of Lafora 1, OMIM:254780
- OMIM
- 607566
- Clinvar variants
- Variants in EPM2A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary ataxia, adult onset
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Glycogen storage disease
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Early onset or syndromic epilepsy
- Ataxia and cerebellar anomalies - childhood onset
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) to Myoclonic epilepsy of Lafora 1, OMIM:254780
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: EPM2A was added gene: EPM2A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPM2A were set to 27604308; 10932264; 14722920 Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora)