Limb disorders

Gene: BMP2

Green List (high evidence)

Brachydactyly type A2 associated with downstream duplications (PMID: 21357617; 29129813; 24710560; 19327734). Please add this region for CNV filtering in WGS analysis.

Created: 17 Jan 2022, 3:03 p.m. | Last Modified: 17 Jan 2022, 3:03 p.m.

Panel Version: 2.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brachydactyly, type A2

Publications

• (PMID: 21357617
• 29129813
• 24710560
• 19327734)

There is currently no ClinGen curated CNV covering this region on chromosome 20.

Created: 13 Apr 2022, 3:55 p.m. | Last Modified: 13 Apr 2022, 3:55 p.m.

Panel Version: 2.77

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, 2:50 p.m. | Last Modified: 13 Oct 2021, 2:50 p.m.

Panel Version: 2.61

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.

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.

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