Congenital Disorders of Glycosylation

Gene: B3GLCT

Green List (high evidence)

B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 18 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 18199743
- 4 affecteds including 1 pair of siblings with mass spec analysis from patients' serum showing defective O-glycosylation

PMID: 16909395
- 20 affecteds from 15 families with no defective N-glycosylation however authors did not examine O-glycosylation and concluded that absence of defective glycosylation cannot be completely ruled out
Sources: Literature
Created: 15 Jul 2020, 5:42 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peters-plus syndrome (MIM# 261540)

Publications

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3glct has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3glct has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

gene: B3GLCT was added gene: B3GLCT was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 18199743; 16909395 Phenotypes for gene: B3GLCT were set to Peters-plus syndrome (MIM# 261540) Penetrance for gene: B3GLCT were set to unknown Review for gene: B3GLCT was set to GREEN