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Clefting

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

Catherine Snow (Genomics England)

Green List (high evidence)

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

21 Aug 2019, Gel status: 3

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

21 Aug 2019, Gel status: 3

Set publications

Catherine Snow (Genomics England)

Publications for gene: BMP2 were set to

21 Aug 2019, Gel status: 3

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

21 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Catherine Snow (Genomics England)

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

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP2 was added to Clefting panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BMP2 was created by Ellen McDonagh