Congenital Heart Defect
Gene: BMPR2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Primarily reported with pulmonary hypertension and veno-occlusive disease rather than CHD.
Created: 24 Nov 2023, 7:10 a.m. | Last Modified: 24 Nov 2023, 7:10 a.m.

Panel Version: 0.395

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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: 24 Nov 2023, 7:10 a.m.
Last Modified: 24 Nov 2023, 7:10 a.m.
Panel version: 0.395

Details

Mode of Inheritance

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

OMIM

600799

Clinvar variants

Variants in BMPR2

Penetrance

None

Panels with this gene