BMP2

bone morphogenetic protein 2
OMIM: 112261, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red BMP2 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.31

review Not set
Sources
  • Emory Genetics Laboratory

Red BMP2 in Pituitary hormone deficiency


Version 2.6
Latest signed off version: v2.2 (3 Mar 2020)

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


Version 2.41
Latest signed off version: v2.2 (13 Feb 2020)

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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.97
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

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

    Green BMP2 in Fetal anomalies


    Version 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    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

    Amber BMP2 in DDG2P


    Version 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Short stature, palatal anomalies, congenital heart disease, and skeletal malformations

    Green BMP2 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.28
    Latest signed off version: v2.2 (4 Mar 2020)

    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

    Green BMP2 in Severe Paediatric Disorders


    Version 1.77

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
    • Brachydactyly, type A2, 112600