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| Congenital Heart Defect v0.418 | BMP2 | Ain Roesley Marked gene: BMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.418 | BMP2 | Ain Roesley Gene: bmp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.418 | BMP2 | Ain Roesley reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37572998, 29198724; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.418 | BMP2 | Ain Roesley Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.418 | BMP2 | Ain Roesley Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.418 | BMP2 | Ain Roesley Classified gene: BMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.418 | BMP2 | Ain Roesley Gene: bmp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.417 | BMP2 |
Ain Roesley 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 Added comment: 8 families with 12 affecteds 4 with CHD Transposition of the great arteries HP:0001669 Mild pulmonary valve stenosis HP:0001642 Ebstein's anomaly HP:0010316 Wolff-Parkinson-White syndrome HP:0001716, perimembranous VSD HP:0011682 Sources: Literature |
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