Associated disorders

The EGR2 gene is associated with autosomal dominant Charcot-Marie-Tooth disease type 1D (CMT1D) (MedGen UID: 334709), and autosomal recessive Charcot-Marie-Tooth disease type 4E (CMT4E, also known as congenital hypomyelinating neuropathy) (MedGen UID: 97965).

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EGR2 is a rare cause of CMT, and the percentage of CMT attributed to pathogenic variants in the EGR2 gene is estimated to be <1%.

The gene EGR2 encodes a protein called “early growth response 2.” This transcription factor mediates a variety of cellular growth and differentiation proceses, including myelination of the peripheral nervous system. Myelin is fatty covering that insulates nerve fibers and is essential for the efficient transmission of nerve impulses.

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
EGR2 NM_000399.3