Congenital Heart Defect
Gene: BMPR2
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
Gene: bmpr2 has been classified as Red List (Low Evidence).
Phenotypes for gene: BMPR2 were changed from to 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
Mode of inheritance for gene: BMPR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: bmpr2 has been classified as Red List (Low Evidence).
gene: BMPR2 was added gene: BMPR2 was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BMPR2 was set to Unknown