Limb disorders
Gene: BMP2
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
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 A2Created: 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 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
Mode of inheritance for gene: BMP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ana Beleza: Tier 2
Gene: bmp2 has been classified as Green List (High Evidence).
Tag cnv tag was added to gene: BMP2.
Publications for gene: BMP2 were set to 19327734; 21357617; 29198724
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for BMP2 were set to 19327734; 21357617; 29198724
Phenotypes for BMP2 were set to Brachydactyly, type A2 112600; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 617877
Phenotypes for BMP2 were set to Brachydactyly, type A2 112600
Phenotypes for BMP2 were set to Brachydactyly, type A2
London South East RGC GSTT was added to BMP2. Panel: Limb disorders
BMP2 was added to Limb disorders panel. Sources: Viapath
BMP2 was created by Ellen McDonagh