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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 Epilepsy Panel 125 genes

Invitae Early Infantile Epileptic Encephalopathy Panel 49 genes

Invitae Rett and Angelman Syndromes and Related Disorders Panel 22 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, 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
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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