BMPR2

bone morphogenetic protein receptor type 2
OMIM: 600799, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green BMPR2 in Vasculitis Level 2: Immunological disorders Version 0.86	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red BMPR2 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450
Green BMPR2 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450
Green BMPR2 in Mendeliome Version 1.2302	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary venoocclusive disease 1 MIM#265450 Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600
Green BMPR2 in Pulmonary Arterial Hypertension Level 2: Cardiovascular disorders Version 1.39	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600 Pulmonary venoocclusive disease 1 MIM#265450
Red BMPR2 in Primary Ovarian Insufficiency_Premature Ovarian Failure Level 3: Gonadal and sex development disorders Level 2: Endocrine disorders Version 0.339	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary ovarian insufficiency
Amber BMPR2 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Pulmonary hypertension, familial primary
Red BMPR2 in Fetal anomalies Version 1.313	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Persistent pulmonary hypertension of the neonate Pulmonary hypertension, familial primary, 1, with or without HHT - MIM#178600 Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated- MIM#178600 Pulmonary venoocclusive disease 1-#265450
Red BMPR2 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category B gene Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600