Associated disorders

The SIL1 gene is associated with autosomal recessive Marinesco-Sjögren syndrome (MSS) (MedGen UID: 6222).

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Invitae tests that include this gene:

The SIL1 gene encodes a resident endoplasmic reticulum (ER) glycoprotein, also known as BAP, that guides the folding and maturation of newly synthesized membrane-bound and secretory proteins. The ATPase activity of SIL1’s binding partner, BiP, converts adenosine triphosphate (ATP) to adenosine diphosphate (ADP), and SIL1 works as a nucleotide exchange factor to aid in the release of ADP and binding of another ATP to BiP to start the cycle over.

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
SIL1 NM_022464.4