EPM2A Chromosome 6
EPM2A glucan phosphatase, laforin
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What This Gene Does
This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
Gene Info
Gene Group
Atypical dual specificity phosphatases
Locus Type
gene with protein product
Location
6q24.3
Ensembl
ENSG00000112425
Associated Conditions (15)
Progressive myoclonic epilepsy
Inborn genetic diseases
Myoclonic epilepsy of Lafora 1
Lafora disease
EPM2A-related disorder
Intellectual disability
Severe global developmental delay
Cataract
Microcephaly
Myoclonic epilepsy
progressive
X-linked
Seizure
Abnormality of the nervous system
Self-limited epilepsy with centrotemporal spikes
Key Variants
RS1367012950
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy
Health Risk
RS1386913118
Conflicting classifications of pathogenicity
Myoclonic epilepsy of Lafora 1, Lafora disease, Myoclonic epilepsy of Lafora 1
Health Risk
RS1387516050
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Lafora disease, Progressive myoclonic epilepsy
Health Risk
RS1454552122
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Lafora disease, Progressive myoclonic epilepsy
Health Risk
RS146321088
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Lafora disease, Inborn genetic diseases
Health Risk
RS147399860
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Intellectual disability, Inborn genetic diseases
Health Risk
RS150452237
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Severe global developmental delay, Cataract
Health Risk
RS1582935082
Conflicting classifications of pathogenicity
Myoclonic epilepsy, progressive, X-linked
Health Risk
RS2128649886
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Lafora disease, Progressive myoclonic epilepsy
Health Risk
RS374043005
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Seizure, Inborn genetic diseases
Health Risk
RS547147183
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, Progressive myoclonic epilepsy
Health Risk
RS571938170
Conflicting classifications of pathogenicity
Progressive myoclonic epilepsy, Inborn genetic diseases, EPM2A-related disorder
Health Risk
All Variants (63)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS796052424 | Health Risk | Pathogenic | Lafora disease, Myoclonic epilepsy of Lafora 1, Lafora disease |
| RS104893950 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Progressive myoclonic epilepsy, Inborn genetic diseases |
| RS104893955 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1, Lafora disease |
| RS1170939620 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Lafora disease, Progressive myoclonic epilepsy |
| RS1332729329 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Progressive myoclonic epilepsy, Lafora disease |
| RS137852915 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1, Lafora disease |
| RS137852916 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1 |
| RS137852917 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1, Lafora disease |
| RS187930476 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Progressive myoclonic epilepsy, Myoclonic epilepsy of Lafora 1 |
| RS201053542 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Lafora disease, Progressive myoclonic epilepsy |
| RS2128649765 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Progressive myoclonic epilepsy |
| RS369463720 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Lafora disease, Progressive myoclonic epilepsy |
| RS781291421 | Health Risk | Pathogenic/Likely pathogenic | Progressive myoclonic epilepsy, Lafora disease, Progressive myoclonic epilepsy |