Congenital disorders of glycosylation
Gene: B3GLCTGlyGen link: https://www.glygen.org/protein_detail.html?uniprot_canonical_ac=Q6Y288-1Created: 9 Jan 2020, 10:55 a.m. | Last Modified: 9 Jan 2020, 10:55 a.m.
Panel Version: 2.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
added new-gene-name tagCreated: 9 Dec 2016, 1:17 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reportedCreated: 15 Dec 2016, 1:43 p.m.
The new name for this gene is B3GLCTCreated: 1 Dec 2016, 9:41 a.m.
B3GALTL was changed to B3GLCT
new-gene-name was removed from B3GALTL. Panel: Congenital disorders of glycosylation
Promoted to V1 19th December 2016
This gene has been classified as Green List (High Evidence).
Publications for B3GALTL were set to 16909395; 23889335
Publications for B3GALTL were set to 16909395
B3GALTL was added to Congenital disorders of glycosylationpanel. Source: UKGTN
B3GALTL was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
B3GALTL was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene B3GALTL was set to BIALLELIC, autosomal or pseudoautosomal
B3GALTL was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
B3GALTL was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
B3GALTL was created by sleigh