Lafora Disease(Myoclonic epilepsy of Lafora) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neurodegenerative disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | EPM2A/7957 | EPM2A glucan phosphatase, laforin | 6q24.3 | Chr6, NC_000006.12 (145383353..145736023, complement) |
352671 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | NHLRC1/378884 | NHL repeat containing E3 ubiquitin protein ligase 1 | 6p22.3 | Chr6, NC_000006.12 (18120440..18122677, complement) |
2238 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |