| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Disorders of Glycosylation v0.86 | B3GLCT | Zornitza Stark Marked gene: B3GLCT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.86 | B3GLCT | Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.85 | B3GLCT | Zornitza Stark Classified gene: B3GLCT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.85 | B3GLCT | Zornitza Stark Gene: b3glct has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.57 | B3GLCT |
Ain Roesley 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 Added comment: 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||