Associated disorders

The ENG gene is associated with autosomal dominant hereditary hemorrhagic telangiectasia (HHT) (MedGen UID: 52657) and hereditary pulmonary arterial hypertension (PAH) (MedGen UID: 57749). Additionally, the ENG gene has preliminary evidence supporting a correlation with autosomal dominant juvenile polyposis syndrome (JPS) (PMID: 16287957, 23399955).

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Pathogenic ENG variants are a rare cause of HHT and are associated with an unknown percentage of clinical cases of JPS.

The ENG gene product acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade. The TGF-beta pathway has been demonstrated to be important in cellular localization and migration. Additionally, ENG is thought to be involved in vascular remodeling.

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
ENG NM_000118.3