Associated disorders

The NHLRC1 gene is associated with autosomal recessive progressive myoclonic epilepsy (Lafora disease) (MedGen UID: 155631).

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Pathogenic variants in the NHLRC1 gene are associated with 27-73% of clinical cases of progressive myoclonic epilepsy / Lafora disease.

The cell is continually producing essential building blocks for life, such as proteins, metabolites, sugars, and lipids. These components are also continually degraded as they become damaged, overabundant, or unnecessary. If this balance is disrupted, then excess components can accumulate in the cell, interfering with normal function and causing toxicity. The NHLRC1 gene, also called EPM2B in the literature, encodes a protein of largely unknown function called malin. It is thought to play a role in sugar metabolism, as loss of NHLRC1 expression is correlated with the accumulation of insoluble carbohydrate deposits in cells throughout the body, including neurons.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
NHLRC1 NM_198586.2