NHLRC1 Chromosome 6
NHL repeat containing E3 ubiquitin protein ligase 1
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What This Gene Does
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000187566
Associated Conditions (5)
Lafora disease
Inborn genetic diseases
NHLRC1-related disorder
Myoclonic epilepsy of Lafora 2
Myoclonic epilepsy of Lafora 1
Key Variants
RS138667242
Conflicting classifications of pathogenicity
Lafora disease, Lafora disease
Health Risk
RS139029314
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS140850172
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS142941035
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, Lafora disease
Health Risk
RS143537405
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS146636139
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS148553723
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS148907696
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, Lafora disease
Health Risk
RS1783731105
Conflicting classifications of pathogenicity
NHLRC1-related disorder, Lafora disease, NHLRC1-related disorder
Health Risk
RS200595273
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, NHLRC1-related disorder
Health Risk
RS2150703425
Conflicting classifications of pathogenicity
Lafora disease, Inborn genetic diseases, Lafora disease
Health Risk
RS370573413
Conflicting classifications of pathogenicity
Lafora disease, Lafora disease
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS794726964 | Health Risk | Pathogenic | — |
| RS796052758 | Health Risk | Pathogenic | — |
| RS1477540228 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Lafora disease |
| RS750465793 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Myoclonic epilepsy of Lafora 2, Lafora disease |
| RS769301934 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Inborn genetic diseases, Myoclonic epilepsy of Lafora 2 |
| RS780082503 | Health Risk | Pathogenic/Likely pathogenic | Lafora disease, Myoclonic epilepsy of Lafora 2, Lafora disease |