BMP2 bone morphogenetic protein 2

Gene info

Synonyms

None

Previous symbol

BMP2A

External ID

HGNC: 1069
Entrez Gene: 650
Ensembl: ENSG00000125845
UCSC: uc002wmu.2
OMIM: 112261
UniProtKB: P12643

Disease info

Disease

None

CHD Phenotype

  • Transposition of the great arteries
  • Ventricular septal defect
  • Pulmonic stenosis

Extra Cardiac Phenotype

Short stature, a recognizable craniofacial gestalt, skeletal anomalies

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

1

MGI ID

88177

Variant info

Clinvar

BMP2

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic , Likely Pathogenic or Pathogenic/Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

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Selected References

  1. https://panelapp-aus.org/panels/76/gene/BMP2/