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SLC5A7
Alias
CHT; CHT1; HMN7A
Associated disorders
The SLC5A7 gene is associated with autosomal dominant distal hereditary motor neuropathy 7 (HMN7A) (MedGen UID: 322474).
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SLC5A7
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Invitae tests that include this gene:
Clinical sensitivity
The percentage of clinical cases of distal hereditary motor neuronopathy type VIIa (HMN7A) caused by pathogenic variants in the SLC5A7 gene is unknown.
Gene function
The SLC5A7 gene encodes the high-affinity choline transporter (ChT), also known as solute carrier family 5 member 7 protein. The SLC5A7 transporter functions to supply choline at the neuromuscular junction.
References
- Barwick, KE, et al. Defective presynaptic choline transport underlies hereditary motor neuropathy. Am. J. Hum. Genet. 2012; 91(6):1103-7. PMID: 23141292
- Okuda, T, Haga, T. Functional characterization of the human high-affinity choline transporter. FEBS Lett. 2000; 484(2):92-7. PMID: 11068039
- Young, ID, Harper, PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J. Neurol. Neurosurg. Psychiatr. 1980; 43(5):413-8. PMID: 7420092
Assay
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 |
|---|---|---|---|
| SLC5A7 | NM_021815.2 |
Resources
Patient resources
Patient guide: Genetic testing simplifiedReferences
- Barwick, KE, et al. Defective presynaptic choline transport underlies hereditary motor neuropathy. Am. J. Hum. Genet. 2012; 91(6):1103-7. PMID: 23141292
- Okuda, T, Haga, T. Functional characterization of the human high-affinity choline transporter. FEBS Lett. 2000; 484(2):92-7. PMID: 11068039
- Young, ID, Harper, PS. Hereditary distal spinal muscular atrophy with vocal cord paralysis. J. Neurol. Neurosurg. Psychiatr. 1980; 43(5):413-8. PMID: 7420092
