BMPR2

bone morphogenetic protein receptor type 2
OMIM: 600799, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red BMPR2 in Extreme early-onset hypertension

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Renal superpanel - broad
  • 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 1.16

    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 3: Vascular lung disorders
    Level 2: Respiratory disorders
    Version 2.6
    Latest signed off version: v2.2 (2 Mar 2020)

    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 3: Pulmonary heart disease
    Level 2: Cardiovascular disorders
    Version 2.13
    Latest signed off version: v2.2 (2 Mar 2020)

    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