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  1. Test Catalog
  2. TIA1

TIA1

Alias

TIA-1; WDM

Associated disorders

The TIA1 gene is associated with autosomal dominant and recessive Welander distal myopathy (WDM) (MedGen UID: 67441).

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TIA1

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Invitae tests that include this gene:

Invitae Distal Myopathy Panel 18 genes

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel 115 genes

Invitae Comprehensive Neuromuscular Disorders Panel 107 genes

Invitae Comprehensive Myopathy Panel 51 genes

Pathogenic variants in TIA1 are the only known cause of Welander distal myopathy, a subtype of distal myopathy that is prevalent in Sweden and Finland.

The TIA1 gene encodes the Cytotoxic granule-associated RNA-binding protein, which regulates splicing of a variety of transcripts in response to cellular stress.

  1. Förch, P, et al. The apoptosis-promoting factor TIA-1 is a regulator of alternative pre-mRNA splicing. Mol. Cell. 2000; 6(5):1089-98. PMID: 11106748
  2. Hackman, P, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann. Neurol. 2013; 73(4):500-9. PMID: 23401021

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
TIA1 NM_022173.2
Clinical resources
Neurology gene list Cardiology management guidelines Why is cardiology genetic testing important? Cardiology gene list Invitae brochure
Patient resources
Patient guide: Genetic testing simplified Patient guide: Hereditary heart conditions
Test information
Specimen requirements page Forms page

References

  1. Förch, P, et al. The apoptosis-promoting factor TIA-1 is a regulator of alternative pre-mRNA splicing. Mol. Cell. 2000; 6(5):1089-98. PMID: 11106748
  2. Hackman, P, et al. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann. Neurol. 2013; 73(4):500-9. PMID: 23401021

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