Ehlers Danlos syndromes

Gene: BGN

Green List (high evidence)

BGN (biglycan)
EnsemblGeneIds (GRCh38): ENSG00000182492
EnsemblGeneIds (GRCh37): ENSG00000182492
OMIM: 301870, Gene2Phenotype
BGN is in 8 panels

5 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: BGN; Suggested initial gene rating: green
Created: 3 Apr 2019, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Gene on panel due to associated clinical phenotypes of joint hypermobility and Joint dislocation (in some patients), need to check with clinical team team if this gene should remain on this panel based on update to eligibility statement. There is clinical overlap between EDS and other Heritable Connective Tissue Disorders.
Created: 4 May 2017, 2:54 p.m.
Comment on list classification: changed status from red to green, there is enough evidence to support the Meester-Loeys syndrome
Created: 4 May 2017, 2:27 p.m.
Comment on publications: PMID: 27632686 five unrelated families (8 affecteds) with causative variant in BGN causing Meester-Loeys syndrome
Created: 4 May 2017, 2:23 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Meester-Loeys syndrome, OMIM:300989
OMIM
301870
Clinvar variants
Variants in BGN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 to Meester-Loeys syndrome, OMIM:300989

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to BGN. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

4 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for BGN were set to Meester-Loeys syndrome, 300989

4 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for BGN were set to 27632686

4 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for BGN were set to Meester-Loeys syndrome, 300989

26 Apr 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

BGN was added to Ehlers-Danlos syndromespanel. Sources: Other

26 Apr 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

BGN was created by LouiseD