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Limb disorders

Gene: BMP2

Green List (high evidence)

BMP2 (bone morphogenetic protein 2)
EnsemblGeneIds (GRCh38): ENSG00000125845
EnsemblGeneIds (GRCh37): ENSG00000125845
OMIM: 112261, Gene2Phenotype
BMP2 is in 7 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating as green as publication PMID:29198724 reports sufficient cases associated with a relevant phenotype to reach a green rating for SNVs. The skeletal features include phalangeal anomalies. Rating has been checked with the Genomics England clinical team.
Created: 18 Sep 2018, 3:19 p.m.
Comment on publications: Added PMID:29129813 another report from 2018 of a duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2
Created: 9 Sep 2018, 9:43 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 19327734 and 21357617 - three families with brachydactyly type A2 reported with duplications downstream of this gene. More than 3 families/cases reported in PMID: 29198724 for monoallelic variants in this gene and Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.
Created: 5 Apr 2018, 12:26 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM. Only one variant reported
Created: 27 Jul 2016, 2:13 p.m.
Comment on mode of inheritance: For this phenotype
Created: 11 Jul 2016, 10:50 a.m.
Comment on list classification: Two different but overlapping duplication variants (in the 3' region of the gene) associated with this phenotype
Created: 11 Jul 2016, 10:49 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200

Variants in this GENE are reported as part of current diagnostic practice

Details

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

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

18 Sep 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: bmp2 has been classified as Green List (High Evidence).

18 Sep 2018, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag cnv tag was added to gene: BMP2.

9 Sep 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BMP2 were set to 19327734; 21357617; 29198724

5 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

5 Apr 2018, Gel status: 1

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for BMP2 were set to 19327734; 21357617; 29198724

5 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BMP2 were set to Brachydactyly, type A2 112600; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877

5 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BMP2 were set to Brachydactyly, type A2 112600

5 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BMP2 were set to Brachydactyly, type A2

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to BMP2. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP2 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BMP2 was created by Ellen McDonagh