Associated disorders

The BMPR1B gene is associated with autosomal recessive acromesomelic dysplasia (MedGen UID: 324453). Additionally, the BMPR1B gene has preliminary evidence supporting a correlation with autosomal dominant brachydactyly (MedGen UID: 318690) and pulmonary arterial hypertension (MedGen UID: 57749).

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Invitae tests that include this gene:

BMPR1B is associated with an unknown percentage of clinical cases of acromesomelic dysplasia, brachydactyly, and pulmonary arterial hypertension.

BMPR1B gene codes for the protein bone morphogenetic protein receptor type IB that belongs to the family of transmembrane serine/threonine kinases. This protein is a receptor for growth differentiation factor 5.

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
BMPR1B NM_001203.2