Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: BGN

Green List (high evidence)

BGN (biglycan)
EnsemblGeneIds (GRCh38): ENSG00000182492
EnsemblGeneIds (GRCh37): ENSG00000182492
OMIM: 301870, Gene2Phenotype
BGN is in 6 panels

3 reviews

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Additional publication - PMID: 38531898
This study highlights that aneurysms and dissections in MRLS extend beyond the thoracic aorta, affecting the entire arterial tree, and cardiovascular symptoms may coincide with non-specific connective tissue features. Furthermore, the clinical presentation is more severe and penetrant in males compared to females. The identified BGN variants in the cohort were shown to lead to loss-of-function or were strongly predicted to lead to loss-of-function based on the nature of the variant. No (likely) pathogenic missense variants without additional (predicted) splice effects were identified
Created: 14 Oct 2024, 4:32 a.m. | Last Modified: 14 Oct 2024, 4:32 a.m.
Panel Version: 1.420

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
Meester-Loeys syndrome MIM#300989 Spondyloepimetaphyseal dysplasia, X-linked MIM#300106

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established association with childhood-onset syndromic disorders. R/V ZS/AY/SL/AA/JM/CL
Created: 11 Aug 2022, 6:43 a.m. | Last Modified: 11 Aug 2022, 6:43 a.m.
Panel Version: 0.97

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

Phenotypes
Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

5 unrelated individuals with syndromic form of severe TAAD (PMID:27632686) plus mouse model (PMID:17502576). Females variably affected.
PMID: 27632686: Affected males had early-onset aortic aneurysm and dissection, with the earliest occurrences at age 1 year and 15 years, respectively.

Two variants reported across 3 families with skeletal dysplasia.
PMID: 27236923: Age at onset of symptoms in all studied affected individuals <2years
Created: 21 Jul 2022, 3:34 a.m. | Last Modified: 21 Jul 2022, 3:34 a.m.
Panel Version: 0.58

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

Phenotypes
Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Meester-Loeys syndrome (MIM#300989)
  • Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)
OMIM
301870
Clinvar variants
Variants in BGN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: BGN.

11 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bgn has been classified as Green List (High Evidence).

11 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BGN were changed from Meester-Loeys syndrome, 300989 (3), X-linked to Meester-Loeys syndrome (MIM#300989); Spondyloepimetaphyseal dysplasia, X-linked (MIM#300106)

11 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BGN were set to

21 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: BGN.

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BGN was added gene: BGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked