Skeletal Dysplasia_Fetal
Gene: BMP1

BMP1 (bone morphogenetic protein 1)
EnsemblGeneIds (GRCh38): ENSG00000168487
EnsemblGeneIds (GRCh37): ENSG00000168487
OMIM: 112264, Gene2Phenotype
BMP1 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Prenatal fractures reported, PMID 25402547.
Created: 9 Nov 2021, 5:08 a.m. | Last Modified: 9 Nov 2021, 5:09 a.m.

Panel Version: 0.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XIII , MIM#614856

Publications

Created: 9 Nov 2021, 5:08 a.m.
Last Modified: 9 Nov 2021, 5:09 a.m.
Panel version: Imported from Fetal anomalies panel version 0.322

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Phenotypes

Osteogenesis imperfecta, type XIII , MIM#614856

OMIM

112264

Clinvar variants

Variants in BMP1

Penetrance

None

Publications

Panels with this gene