Ehlers Danlos syndrome with a likely monogenic cause
Gene: BGN
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: greenCreated: 3 Apr 2019, 3:41 p.m.
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 syndromeCreated: 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 syndromeCreated: 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)
Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 to Meester-Loeys syndrome, OMIM:300989
Source NHS GMS was added to BGN. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for BGN were set to Meester-Loeys syndrome, 300989
Publications for BGN were set to 27632686
Phenotypes for BGN were set to Meester-Loeys syndrome, 300989
BGN was added to Ehlers-Danlos syndromespanel. Sources: Other
BGN was created by LouiseD