Associated disorders

The C12orf65 gene is associated with autosomal recessive Hereditary spastic paraplegia 55 (SPG55) (PMID: 23188110, 24080142) and autosomal recessive Combined oxidative phosphorylation deficiency 7 (COXPD7) (MedGen UID: 462151).

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Invitae tests that include this gene:

The percentage of HSP attributed to pathogenic variants identified in C12orf65 is unknown.

C12orf65 encodes a protein involved in the translation of proteins encoded by the mitochondrial genome.

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
C12orf65 NM_152269.4