Pulmonary arterial hypertension
Gene: BMPR2PMID: 28388887 provides further evidence that rare variants in this gene contribute to the risk of familial pulmonary arterial hypertension.Created: 14 Aug 2017, 1:53 p.m.
Publications
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: BMPR2; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Causative of majority of casesCreated: 6 Dec 2018, 2:01 p.m.
There are more than three unrelated cases for Pulmonary venoocclusive disease: PMID 25917481,12446270,16429395, 18626305. For Primary pulmonary hypertension there are several unrelated cases: PMID 10973254, 11015450, 12358323. PMID: 20301658 notes that most heritable PAH (75%) is caused by a pathogenic variant in BMPR2; pathogenic variants in other genes (i.e., ACVRL1, KCNK3, CAV1, SMAD9, BMPR1B,) are considerably less common (1-3%). In PMID: 21898662 candidate gene analysis was undertaken, members of the bone morphogenetic protein (BMP) pathway, namely SMAD1, SMAD4, SMAD5, and SMAD9, were screened by direct sequencing for gene defects. Four variants were identified among a cohort of 324 PAH cases. The results demonstrated the role of BMPR2 mutation in the pathogenesis of PAH and indicated that variation within the SMAD family represents an infrequent cause of the disease.Created: 9 Jun 2017, 2:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension
Publications
Source NHS GMS was added to BMPR2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for BMPR2 were set to 25917481; 12446270; 16429395; 18626305; 10973254; 11015450; 12358323; 20301658; 24951762; 10973254; 28507310; 21898662; 26387786; 18159113; 28388887; 26699722
Publications for BMPR2 were set to 25917481; 12446270; 16429395; 18626305; 10973254; 11015450; 12358323; 20301658; 24951762; 10973254; 28507310; 21898662; 26387786; 18159113;28388887
Panel reviews were assessed, and panel was revised according to reviews and further in-house curation.
BMPR2 was added to Pulmonary arterial hypertensionpanel. Sources: Expert list
Phenotypes for BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600; Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension; Pulmonary venoocclusive disease 1, 265450; PVOD
Phenotypes for BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension;Pulmonary venoocclusive disease 1, 265450; PVOD
BMPR2 was added to Pulmonary arterial hypertensionpanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
BMPR2 was added to Pulmonary arterial hypertensionpanel. Sources: Eligibility statement prior genetic testing
BMPR2 was added to Pulmonary arterial hypertensionpanel. Sources: Literature
BMPR2 was created by LouiseD