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  1. Test Catalog
  2. STXBP1

STXBP1

Alias

MUNC18-1; NSEC1; P67; RBSEC1; UNC18

Associated disorders

The STXBP1 gene is associated with autosomal dominant early infantile epileptic encephalopathy (MedGen UID: 436917).

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STXBP1

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Invitae tests that include this gene:

Invitae Rett and Angelman Syndromes and Related Disorders Panel 22 genes

Invitae Epilepsy Panel 133 genes

Invitae Early Infantile Epileptic Encephalopathy Panel 53 genes

Pathogenic variants in the STXBP1 gene are associated with ~35% of clinical cases of Ohtahara syndrome (early infantile epileptic encephalopathy (EIEE)).

The STXBP1 gene encodes a protein that interacts with vesicle membrane proteins and participates in vesicle trafficking and exocytosis, including neurotransmitter release at synapses (PMID: 22787616).

  1. Saitsu, H, et al. Haploinsufficiency of STXBP1 and Ohtahara syndrome. In: Noebels, JL, et al, editors. Jasper's Basic Mechanisms of the Epilepsies (Internet). National Center for Biotechnology Information (US). PMID: 22787616

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
STXBP1 NM_003165.3
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References

  1. Saitsu, H, et al. Haploinsufficiency of STXBP1 and Ohtahara syndrome. In: Noebels, JL, et al, editors. Jasper's Basic Mechanisms of the Epilepsies (Internet). National Center for Biotechnology Information (US). PMID: 22787616

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