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Severe Paediatric Disorders

Gene: BMP2

Green List (high evidence)

BMP2 (bone morphogenetic protein 2)
EnsemblGeneIds (GRCh38): ENSG00000125845
EnsemblGeneIds (GRCh37): ENSG00000125845
OMIM: 112261, Gene2Phenotype
BMP2 is in 8 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: BMP2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Brachydactyly, type A2, 112600 (3) | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
112261
Clinvar variants
Variants in BMP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted st