KIAA0274; SAC3

Associated disorders

The FIG4 gene is associated with autosomal recessive Charcot-Marie-Tooth disease type 4J (CMT4J) (MedGen UID: 370808) and Yunis-Varon syndrome (MedGen UID: 341818). Additionally, the FIG4 gene has preliminary evidence supporting a correlation with autosomal dominant amyotrophic lateral sclerosis 11 (ALS11) (PMID: 19118816; MedGen UID: 393399).

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FIG4 is a rare cause of CMT and ALS. The percentage of CMT attributed to pathogenic variants in the FIG4 gene is estimated to be <1%. Pathogenic variants in FIG4 are the only known cause of Yunis-Varon syndrome.

The gene FIG4 encodes the protein Fig4, a ubiquitously expressed phosphatase. Fig4 helps regulate the synthesis and turnover of an important phosphoinositide (phosphatidylinositol-3,5-bisphosphate), which itself has several functions, including membrane and protein trafficking.

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
FIG4 NM_014845.5