Congenital disorders of glycosylation
Gene: B3GLCT

B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 16 panels

4 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q6Y288-1
Created: 9 Jan 2020, 10:55 a.m. | Last Modified: 9 Jan 2020, 10:55 a.m.

Panel Version: 2.0

Created: 9 Jan 2020, 10:55 a.m.
Last Modified: 9 Jan 2020, 10:55 a.m.
Panel version: 2.0

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

16909395

Created: 9 Dec 2016, 4:51 p.m.

Panel version: 0.4

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 1:17 p.m.

Created: 9 Dec 2016, 1:17 p.m.

Panel version: 0.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reported
Created: 15 Dec 2016, 1:43 p.m.

The new name for this gene is B3GLCT
Created: 1 Dec 2016, 9:41 a.m.

Created: 1 Dec 2016, 9:41 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Peters-plus syndrome 261540
O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)

OMIM

610308

Clinvar variants

Variants in B3GLCT

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

B3GALTL was changed to B3GLCT

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from B3GALTL. Panel: Congenital disorders of glycosylation

19 Dec 2016, Gel status: 4