Skeletal dysplasia
Gene: BMP2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Patients with SSFSC1 have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract. 8 individuals from 6 families in the original paper.

Variants in this gene have also been associated with isolated brachydactyly.
Created: 9 Nov 2021, 5:18 a.m. | Last Modified: 9 Nov 2021, 5:18 a.m.

Panel Version: 0.9676

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877

Publications

29198724

Created: 9 Nov 2021, 5:18 a.m.
Last Modified: 9 Nov 2021, 5:18 a.m.
Panel version: Imported from Mendeliome panel version 0.9676

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
NHS GMS
Emory Genetics Laboratory
Victorian Clinical Genetics Services

Phenotypes

{HFE hemochromatosis, modifier of} 235200
short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
Brachydactyly, type A2 112600

OMIM

112261

Clinvar variants

Variants in BMP2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BMP2 was added gene: BMP2 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP2 were set to 19327734; 29198724; 21357617 Phenotypes for gene: BMP2 were set to {HFE hemochromatosis, modifier of} 235200; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600

Skeletal dysplasia Gene: BMP2