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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) and autosomal recessive congenital myasthenic syndrome 20 (CMS20) (MedGen UID: 934661).
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SLC5A7
Order this gene as a single gene test.
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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 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 |
|---|---|---|---|
| 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
