1. Genes and Genomic Entities
  2. BMP2

BMP2

bone morphogenetic protein 2
OMIM: 112261, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red BMP2 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Red BMP2 in Pituitary hormone deficiency


Level 2: Endocrinology
Version 4.4
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)
Green BMP2 in Limb disorders


Level 2: Musculoskeletal
Version 7.20
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Brachydactyly, type A2 112600
    • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877
    Tags
    • cnv
    Green BMP2 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.
    • Brachydactyly, type A2 112600
    • {HFE hemochromatosis, modifier of} 235200
    Tags
    • cnv
    Green BMP2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE Additional Gene List
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
    • Brachydactyly, type A2 112600
    Tags
    • watchlist
    Green BMP2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
    Green BMP2 in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

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