GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: BMP2

BMP2 (bone morphogenetic protein 2)
EnsemblGeneIds (GRCh38): ENSG00000125845
EnsemblGeneIds (GRCh37): ENSG00000125845
OMIM: 112261, Gene2Phenotype
BMP2 is in 7 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Brachydactyly type A2 is included in brachydactylies (without extraskeletal manifestations) gp of SD. Brachydactyly type A2 associated with duplications 110kb downstream of BMP2 in 3 families. MIM 617877 not listed in SD nosology paper - 6 unrelated families reported by Tan et al 2017. Plus overlapping microdeletions in 2 further cases. AD; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

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

OMIM

112261

Clinvar variants

Variants in BMP2

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: BMP2 was added gene: BMP2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMP2 were set to short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: BMP2