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
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
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
Publications for gene: BMP2 were set to
Mode of inheritance for gene: BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: bmp2 has been classified as Green List (High Evidence).
BMP2 was added to Clefting panel. Sources: Victorian Clinical Genetics Services
BMP2 was created by Ellen McDonagh