BMP2

bone morphogenetic protein 2
OMIM: 112261, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green BMP2 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877

Green BMP2 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877

Green BMP2 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BMP2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review 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

Red BMP2 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.34

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)

Green BMP2 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
  • Cleft palate

Green BMP2 in Hand and foot malformations


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.74

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Brachydactyly, type A2 112600
    • short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.

    Green BMP2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1, MIM# 617877