Skeletal dysplasia

Gene: BMP2

Green List (high evidence)

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

• PMID: 21357617
• 29129813
• 24710560
• 19327734

Mode of pathogenicity
Other

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

• 19327734
• 21357617
• 29198724

I don't know

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: 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.

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.

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