DDG2P
Gene: BGN

BGN (biglycan)
EnsemblGeneIds (GRCh38): ENSG00000182492
EnsemblGeneIds (GRCh37): ENSG00000182492
OMIM: 301870, Gene2Phenotype
BGN is in 7 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease Severe syndromic form of thoracic aortic aneurysm & dissection is strong. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_X_hem, absent gene product and potential IF respectively (PMIDs: 34807424;27632686).

The DDG2P confidence category for the disease X-Linked Spondyloepimetaphyseal Dysplasia is strong. The allelic requirement and mutation consequence are monoallelic_X_hem and altered gene product structure (PMID:27236923).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 6 Oct 2023, 5:20 p.m.

Panel Version: 3.29

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Severe syndromic form of thoracic aortic aneurysm & dissection; X-Linked Spondyloepimetaphyseal Dysplasia

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 6 Oct 2023, 5:20 p.m.
Panel version: 3.12

Rebecca Foulger (Genomics England curator)

I don't know

September 2019: G2P confidence terminology was updated: DD-G2P rating is now 'both RD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection.
Created: 8 Oct 2019, 3:24 p.m. | Last Modified: 8 Oct 2019, 3:24 p.m.

Panel Version: 1.131

Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.

Panel Version: 1.76

Kept rating as Amber to reflect DDG2P Disease confidence of 'both DD and IF' for Severe syndromic form of thoracic aortic aneurysm & dissection. BGN also rated 'probable' for X-Linked Spondyloepimetaphyseal Dysplasia.
Created: 29 Jan 2019, 12:14 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:40 p.m.

Multiple MOPs in DD-G2P download: all missense/in frame, loss of function. Multiple ratings in DD-G2P download: Rated both DD and IF for Severe syndromic form of thoracic aortic aneurysm & dissection, and rated probable for X-Linked Spondyloepimetaphyseal Dysplasia.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 1.131

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

Severe syndromic form of thoracic aortic aneurysm & dissection
X-Linked Spondyloepimetaphyseal Dysplasia

OMIM

301870

Clinvar variants

Variants in BGN

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: BGN.

4 Oct 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: BGN were updated from 27632686 to 27632686; 27236923; 34807424

12 Jul 2019, Gel status: 3