The COL1A1 gene is associated with autosomal dominant osteogenesis imperfecta (MedGen UID: 45246), Ehlers-Danlos syndrome, arthrochalasia type (MedGen UID: 78662), and Caffey disease (PMID: 24389367).
Pathogenic variants in COL1A1 are the only known cause of Caffey disease and a rare cause of classic Ehlers-Danlos syndrome. Together, pathogenic variants in COL1A1 and COL1A2 cause >90% of clinical cases of Osteogenesis Imperfecta types I, II, III, and IV and are the only known cause of Ehlers-Danlos, arthrochalasia type.
The COL1A1 gene encodes pro-alpha1(I) that, along with pro-alpha 2(I), forms type I collagen (PMID: 23692737). Type I collagen is the most abundant form of collagen, which strengthens and supports bones, cartilige, tendons, teeth, skin and the sclera of the eye (PMID: 23692737).
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|