AD-FSP, atlastin, FSP1

Associated disorders

The ATL1 gene is associated with autosomal dominant hereditary spastic paraplegia type 3A (SPG3A) (MedGen UID: 419393) and hereditary sensory neuropathy type 1D (HSN1D) (MedGen UID: 462322).

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Invitae tests that include this gene:

The percentage of clinical cases of hereditary sensory and autonomic neuropathy, (HSAN) caused by pathogenic variants in the ATL1 gene is unknown.

The ATL1 gene encodes the protein atlastin. Although it is made in cells throughout the body, this protein is most highly expressed in the central nervous system. In neurons, atlastin localizes to the Golgi apparatus, endoplasmic reticulum, and axonal growth cone, and it may play a role in axonal growth.

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
ATL1 NM_015915.4