Congenital disorders of glycosylation
Gene: B4GALT1GlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=P15291-1Created: 9 Jan 2020, 11:01 a.m. | Last Modified: 9 Jan 2020, 11:01 a.m.
Panel Version: 2.0
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 evidenceCreated: 15 Dec 2016, 2:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
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
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for B4GALT1 were set to 21920538; 11901181
Publications for B4GALT1 were set to 21920538
B4GALT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
B4GALT1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene B4GALT1 was set to BIALLELIC, autosomal or pseudoautosomal
B4GALT1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
B4GALT1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
B4GALT1 was created by sleigh