Associated disorders

The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515) and cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 347726).

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Pathogenic variants in DNMT1 are a rare cause of hereditary sensory and autonomic neuropathy. However, DNMT1 is the only gene known to cause hereditary sensory neuropathy type IE.

The DNMT1 gene encodes the enzyme DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation by adding methyl groups to cytosines. DNMT1 is highly expressed in postmitotic neurons and the adult central nervous system, where it regulates genes involved in a wide variety of cellular functions.

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
DNMT1 NM_001130823.1