Congenital disorders of glycosylation
Gene: B4GALT1

B4GALT1 (beta-1,4-galactosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000086062
EnsemblGeneIds (GRCh37): ENSG00000086062
OMIM: 137060, Gene2Phenotype
B4GALT1 is in 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P15291-1
Created: 9 Jan 2020, 11:01 a.m. | Last Modified: 9 Jan 2020, 11:01 a.m.

Panel Version: 2.0

Created: 9 Jan 2020, 11:01 a.m.
Last Modified: 9 Jan 2020, 11:01 a.m.
Panel version: 2.0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two reports of one variant reported, together with supporting in vitro and segregation evidence
Created: 15 Dec 2016, 2:06 p.m.

Created: 15 Dec 2016, 2:06 p.m.

Panel version: 0.42

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

21920538

Created: 12 Dec 2016, 11:16 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Congenital disorder of glycosylation, type IId, OMIM:607091

OMIM

137060

Clinvar variants

Variants in B4GALT1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

19 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: B4GALT1 were changed from Congenital disorder of glycosylation, type IId 607091; Beta-1,4-galactosyltransferase 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type IId, OMIM:607091

19 Dec 2016, Gel status: 4