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  3. BMP2
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Congenital Heart Defect

Gene: BMP2

Green List (high evidence)
BMP2 (bone morphogenetic protein 2)
EnsemblGeneIds (GRCh38): ENSG00000125845
EnsemblGeneIds (GRCh37): ENSG00000125845
OMIM: 112261, Gene2Phenotype
BMP2 is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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:0001669
Created: 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

Created: 12 Apr 2024, 5:33 a.m.
Last Modified: 12 Apr 2024, 5:33 a.m.
Panel version: 0.418

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877
OMIM
112261
Clinvar variants
Variants in BMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: bmp2 has been classified as Green List (High Evidence).

12 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: bmp2 has been classified as Green List (High Evidence).

12 Apr 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

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