Associated disorders

The SH3TC2 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4C (CMT4C) (MedGen UID: 356581).

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SH3TC2 is a rare cause of CMT4, and the percentage of cases attributed to pathogenic variants in SH3TC2 is unknown.

The SH3TC2 gene encodes the SH3 domain and tetratricopeptide repeats-containing protein 2. The protein encoded by this gene is expressed in the nervous system and functions in endosomal recycling, potentially by regulating the small GTPase Rab11.

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
SH3TC2 NM_024577.3