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Skeletal dysplasia

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Brachydactyly type A2 is included in brachydactylies (without extraskeletal manifestations) gp of SD. Brachydactyly type A2 associated with duplications 110kb downstream of BMP2 in 3 families. MIM 617877 not listed in SD nosology paper - 6 unrelated families reported by Tan et al 2017. Plus overlapping microdeletions in 2 further cases. AD; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200; short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.

Publications

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: BMP2; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
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: 18 Sep 2018, 3:25 p.m.
Comment on list classification: Rating green based on publication (PMID: 29198724) reporting sufficient cases associated with a relevant phenotype. Rating has been checked with Genomics England clinical team.
Created: 18 Sep 2018, 3:23 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, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • 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
OMIM
112261
Clinvar variants
Variants in BMP2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes short stature, facial dysmorphism and skeletal anomalies with or without cardiac aomalies 617877.; Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200 for gene: BMP2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to BMP2. Rating Changed from Green List (high evidence) to Green List (high evidence)

18 Sep 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: BMP2 were set to 19327734; 21357617

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).

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

27 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BMP2 were set to Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200

11 Jul 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for BMP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Jul 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for BMP2 were set to 19327734; 21357617

11 Jul 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

BMP2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

BMP2 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

BMP2 was created by sleigh