ADCADN; AIM; CXXC9; DNMT; HSN1E; MCMT; m.HsaI
The DNMT1 gene is associated with autosomal dominant hereditary sensory neuropathy type 1E (HSN1E) (MedGen UID: 481515). Additionally, the DNMT1 gene has preliminary evidence supporting a correlation with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) (MedGen UID: 347726).
Order this gene as a single gene test.
Invitae tests that include this gene:
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.
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 in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.
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|