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  1. Test Catalog
  2. NIPA1

NIPA1

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

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Invitae tests that include this gene:

Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel 12 genes

Invitae Hereditary Spastic Paraplegia Comprehensive Panel 43 genes

The percentage of hereditary spastic paraplegia attributed to pathogenic variants identified in NIPA1 is unknown.

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.

  1. 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
  2. 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
  3. 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
  4. 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 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
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Test information
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References

  1. 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
  2. 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
  3. 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
  4. 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

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