Skeletal dysplasia
Gene: BMP2
Brachydactyly type A2 is associated with downstream duplications (PMID: 21357617; 29129813; 24710560; 19327734). Please add this region for CNV filtering in WGS analysis.Created: 17 Jan 2022, 3:05 p.m. | Last Modified: 17 Jan 2022, 3:05 p.m.
Panel Version: 2.168
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type A2
Publications
Mode of pathogenicity
Other
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 LesterCreated: 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
There is currently no ClinGen curated CNV covering this region on chromosome 20.Created: 13 Apr 2022, 3:54 p.m. | Last Modified: 13 Apr 2022, 3:54 p.m.
Panel Version: 2.199
Comment on mode of inheritance: Leaving the mode of inheritance as monoallelic. OMIM also reports the biallelic phenotype of {HFE hemochromatosis, modifier of} but this is not relevant to this panel.Created: 13 Oct 2021, 2:51 p.m. | Last Modified: 13 Oct 2021, 2:51 p.m.
Panel Version: 2.136
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: greenCreated: 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.
Comment when marking as ready: Associated with phenotype in OMIM. Only one variant reportedCreated: 27 Jul 2016, 2:13 p.m.
Comment on mode of inheritance: For this phenotypeCreated: 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 phenotypeCreated: 11 Jul 2016, 10:49 a.m.
Tier 2Created: 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
Tag cnv tag was added to gene: BMP2.
Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Source NHS GMS was added to BMP2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for gene: BMP2 were set to 19327734; 21357617
Gene: bmp2 has been classified as Green List (High Evidence).
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for BMP2 were set to Brachydactyly, type A2 112600; {HFE hemochromatosis, modifier of} 235200
Mode of inheritance for BMP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
Publications for BMP2 were set to 19327734; 21357617
BMP2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
BMP2 was added to Unexplained skeletal dysplasiapanel. Sources:
BMP2 was created by sleigh