Beginning August 1, 2023, the University of Utah Department of Pathology and ARUP Laboratories will no longer host this mutation database. Our clinical variant data will be consolidated and shared with free publicly accessible databases such as ClinVar. For any questions or concerns related to the removal of this database from our website, please click here and one of our molecular genetics medical directors will review your submission and get back to you.

Hereditary Pulmonary Arterial Hypertension and BMPR2  

Initial release: May 2012
Last update: January 2013

Hereditary pulmonary arterial hypertension (HPAH) is characterized by widespread, progressive occlusion of the smallest pulmonary arteries. As the vessels become narrowed, pulmonary arterial pressure increases, resulting in compensatory hypertrophy of the right ventricle. As this disease progresses the right ventricle weakens eventually resulting in right heart failure. HPAH is associated with autosomal dominant mutations in the bone morphogenetic protein receptor, type II (BMPR2) gene, a member of the transforming growth factor-beta superfamily of receptors. However, due to reduced penetrance, only 20% of individuals with BMPR2 gene mutations develop symptoms of pulmonary arterial hypertension. Mutations in BMPR2 are detected in approximately 75% of HPAH patients and approximately 25% of idiopathic pulmonary arterial hypertension (IPAH) patients.

The purpose of this database is to collect and document all known BMPR2 gene variants, provide a pathogenicity classification and references for each. The Genbank reference sequences used for this database are: NC_000002.11 and NM_001204.6.

ARUP Laboratories offers the following molecular testing:

  • Pulmonary Arterial Hypertension Panel, Sequencing and Deletion/Duplication (test 2009345)
  • Familial mutation, Targeted Sequencing, (test 2001961)

Database Information

The BMPR2 database currently has 270 total entries.


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