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  • Alternate specimens:
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WASHC5

Alias

KIAA0196; RTSC; RTSC1; SPG8

Associated disorders

The WASHC5 gene (formerly known as KIAA0196) 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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WASHC5

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Invitae tests that include this gene:

Although the exact percentage of HSP caused by pathogenic variants in WASHC5 is uncertain, in a cohort of 24 HSP patients negative for ATL1 and SPAST pathogenic variants, 2 (8%) were found to have WASH5C pathogenic variants.

The WASHC5 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 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
WASHC5 NM_014846.3