Craniosynostosis

Gene: B3GAT3

Amber List (moderate evidence)

B3GAT3 (beta-1,3-glucuronyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 12 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Yauy Genet Med 20:269 (2018) 6 patients from 4 unrelated families homozygous for c.667G>A (p.Gly223Ser) ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis and bone fragility

Publications

  • Yauy Genet Med 20:269 (2018)

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading from red to amber. Amber rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. The group decided to rate amber until there is more evidence for the gene-disease association.
Created: 21 May 2019, 4:09 p.m.
PMID: 28771243 - Yauy et al 2018 - six patients from four unrelated consanguineous families, all from Morocco. All sequenced patients showed a unique homozygous mutation of c.667G >A, p.Gly223Ser in the B3GAT3 gene. 3 patients from 2 families showed craniosynostosis.
Created: 14 May 2019, 12:27 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: B3GAT3; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

21 May 2019, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b3gat3 has been classified as Amber List (Moderate Evidence).

21 May 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: B3GAT3 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Craniosynostosis and bone fragility for gene: B3GAT3

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: B3GAT3 were set to

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: B3GAT3 was added gene: B3GAT3 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: B3GAT3 was set to