Associated disorders

ATP6V0A2 is associated with autosomal recessive ATP6V0A2-associated cutis laxa type 2 (ATP6V0A2-CDG) (MedGen UID: 324794).

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ATP6V0A2-associated cutis laxa (ATP6V0A2-CDG) is a rare cause of congenital disorders of glycosylation, and the percentage of cases attributed to pathogenic variants in ATP6V0A2 is unknown.

The ATPV60A2 gene encodes a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and plasma membrane and plays a critical role in the acidification of cellular organelles.

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
ATP6V0A2 NM_012463.3