Clefting
Gene: BMP2EnsemblGeneIds (GRCh38): ENSG00000125845
EnsemblGeneIds (GRCh37): ENSG00000125845
OMIM: 112261, Gene2Phenotype
BMP2 is in 7 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic. OMIM also reports the biallelic phenotype of {HFE hemochromatosis, modifier of} but this is not relevant to this panel.Created: 13 Oct 2021, 2:52 p.m. | Last Modified: 13 Oct 2021, 2:52 p.m.
Panel Version: 2.55
Catherine Snow (Genomics England)
Rating as green as publication PMID:29198724 reports sufficient cases associated with a relevant phenotype. Three unrelated individuals reported with cleft palate or Pierre Robin sequence where clefting is a phenotype of the disease.
A earlier paper (PMID:21671386) reported on individuals with cleft palates who had microdeletion 20p12.3, BMP2 was identified as only gene deleted in two of the individuals. Phenotype is associated with gene in OMIM and is rated as probable in Gene2Phenotype.Created: 21 Aug 2019, 9:44 a.m. | Last Modified: 21 Aug 2019, 9:44 a.m.
Panel Version: 1.39
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cleft palate
- Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
- OMIM
- 112261
- Clinvar variants
- Variants in BMP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: BMP2 were changed from Cleft palate to Cleft palate; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
Set publications
Catherine Snow (Genomics England)Publications for gene: BMP2 were set to
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: bmp2 has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)BMP2 was added to Clefting panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)BMP2 was created by Ellen McDonagh