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NIPA1
Overview
Alias
FSP3; SPG6
Associated disorders
The NIPA1 gene is associated with autosomal dominant hereditary spastic paraplegia 6 (SPG6) (MedGen UID: 324965).
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NIPA1
Order this gene as a single gene test.
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Invitae tests that include this gene:
Clinical sensitivity
The percentage of hereditary spastic paraplegia attributed to pathogenic variants identified in NIPA1 is unknown.
Gene function
The NIPA1 gene encodes a magnesium transporter protein that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance.
References
- Tsang, HT, et al. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum. Mol. Genet. 2009; 18(20):3805-21. doi: 10.1093/hmg/ddp324. PMID: 19620182
- Fink, JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1509/ PMID: 20301682
- Rainier, S, et al. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 2003; 73(4):967-71. doi: 10.1086/378817. PMID: 14508710
- Chen, S, et al. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum. Mutat. 2005; 25(2):135-41. doi: 10.1002/humu.20126. PMID: 15643603
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 |
|---|---|---|---|
| NIPA1 | NM_144599.4 |
Resources
Patient resources
Patient guide: Genetic testing simplifiedReferences
- Tsang, HT, et al. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. Hum. Mol. Genet. 2009; 18(20):3805-21. doi: 10.1093/hmg/ddp324. PMID: 19620182
- Fink, JK. Hereditary Spastic Paraplegia Overview. 2000 Aug 15. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1509/ PMID: 20301682
- Rainier, S, et al. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 2003; 73(4):967-71. doi: 10.1086/378817. PMID: 14508710
- Chen, S, et al. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum. Mutat. 2005; 25(2):135-41. doi: 10.1002/humu.20126. PMID: 15643603
