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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Action taken: Updated rating from Amber to Green.
Created: 29 Apr 2019, 2:52 p.m.
'watchlist' tag added to highlight different DD-G2P ratings for this gene.
Created: 8 Nov 2018, 9 p.m.
In the original PAGE file: rated as Probable for Short stature, palatal anomalies, congenital heart disease, and skeletal malformations, and rated as Possible in the Additional gene list. In the original PAGE file, MOP listed as LOF for Short stature, palatal anomalies, congenital heart disease, and skeletal malformations, and listed as Uncertain in the Additional gene list. Mode of inheritance is listed as 'Monoallelic' in both the main PAGE file and the PAGE Additional gene list.
Created: 8 Nov 2018, 4:46 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
  • Brachydactyly, type A2 112600
Tags
watchlist
OMIM
112261
Clinvar variants
Variants in BMP2
Penetrance
None
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to BMP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

8 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist tag was added to gene: BMP2.

8 Nov 2018, Gel status: 2

Added New Source, Set Phenotypes

Rebecca Foulger (Genomics England curator)

Source PAGE Additional Gene List was added to BMP2. Added phenotypes Brachydactyly, type A2 112600 for gene: BMP2

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: BMP2 was added gene: BMP2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMP2 were set to Short stature, palatal anomalies, congenital heart disease, and skeletal malformations