Interstitial Lung Disease
Gene: BMPR2

BMPR2 (bone morphogenetic protein receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000204217
EnsemblGeneIds (GRCh37): ENSG00000204217
OMIM: 600799, Gene2Phenotype
BMPR2 is in 9 panels

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Over 10 unrelated families reported.
Infant/ childhood PAH.
Well-established gene-disease association
Created: 29 Oct 2021, 5:11 a.m. | Last Modified: 29 Oct 2021, 5:11 a.m.

Panel Version: 0.150

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MIM# 600799 Pulmonary arterial hypertension

Publications

PMID: 27587546
PMID: 24355637
PMID: 22632830
PMID: 11115378

Created: 29 Oct 2021, 5:11 a.m.
Last Modified: 29 Oct 2021, 5:11 a.m.
Panel version: 0.150

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

PAH is the major feature.
Sources: Expert list
Created: 23 Jan 2020, 12:15 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Created: 23 Jan 2020, 12:15 a.m.

Panel version: Imported from Pulmonary Arterial Hypertension panel version 0.6

Details

Mode of Inheritance

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

OMIM

600799

Clinvar variants

Variants in BMPR2

Penetrance

None

Publications

Panels with this gene