Gene Symbol:
BGN
HGNC:1044
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xq28
Filters:

Strong classifications

X-linked spondyloepimetaphyseal dysplasia
Submitted as: OMIM:300106
XL
04/16/2021
Evaluated
11/30/2023
Submitted
Meester-Loeys syndrome
Submitted as: OMIM:300989
XL
03/04/2020
Evaluated
03/31/2021
Submitted

Moderate classifications

Meester-Loeys syndrome
Submitted as: OMIM:300989
XL
08/31/2018
Evaluated
03/02/2021
Submitted

Supportive classifications

X-linked spondyloepimetaphyseal dysplasia
Submitted as: Orphanet:93349
XL
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Meester-Loeys syndrome
XL
06/06/2018
Evaluated
10/15/2020
Submitted
X-linked spondyloepimetaphyseal dysplasia
Submitted as: OMIM:300106
XL
08/31/2018
Evaluated
03/02/2021
Submitted
familial thoracic aortic aneurysm and aortic dissection
AD
12/22/2016
Evaluated
10/18/2023
Submitted

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