Associated disorders

The KIAA0196 gene is associated with autosomal dominant hereditary spastic paraplegia 8 (SPG8) (MedGen UID: 400359) and autosomal recessive cranio-cerebello-cardiac (3C) syndrome, also known as Ritscher-Schinzel syndrome (MedGen UID: 163220).

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Although the exact percentage of HSP caused by pathogenic variants in KIAA0196 is uncertain, in a cohort of 24 HSP patients negative for ATL1 and SPAST pathogenic variants, 2 (8%) were found to have KIAA0196 pathogenic variants.

The KIAA0196 gene encodes the ubuiquitously expressed strumpellin protein. Strumpellin is a component of an actin-regulating complex that recruits physiologically important proteins to endosomal vescicles. In the central nervous system, strumpellin is localized to the presynaptic region of neurons.

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
KIAA0196 NM_014846.3