BMPR2

bone morphogenetic protein receptor type 2
OMIM: 600799, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Red BMPR2 in Extreme early-onset hypertension Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.23	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450
Red BMPR2 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated Pulmonary venoocclusive disease 1
Amber BMPR2 in Hereditary haemorrhagic telangiectasia Level 2: Respiratory Version 3.7 Latest signed off version: v3.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
Green BMPR2 in Pulmonary arterial hypertension Level 2: Respiratory Version 4.5 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert list UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Eligibility statement prior genetic testing Literature Phenotypes 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