Congenital Heart Defect
Gene: BMP2
PMID: 37572998
1x indiv with fs
(of interest to this panel) isolated dextrocardia situs solitus without cardiac anomalies
PMID: 29198724
12 affecteds from 8 families
4 with CHD
Wolff-Parkinson-White syndrome HP:0001716, perimembranous VSD HP:0011682
Ebstein's anomaly HP:0010316
Mild pulmonary valve stenosis HP:0001642
Transposition of the great arteries HP:0001669Created: 12 Apr 2024, 5:33 a.m. | Last Modified: 12 Apr 2024, 5:33 a.m.
Panel Version: 0.418
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: bmp2 has been classified as Green List (High Evidence).
Gene: bmp2 has been classified as Green List (High Evidence).
gene: BMP2 was added gene: BMP2 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP2 were set to 29198724 Phenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877 Review for gene: BMP2 was set to GREEN gene: BMP2 was marked as current diagnostic