| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Disorders of Glycosylation v0.106 | MAGT1 | Seb Lunke Marked gene: MAGT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.106 | MAGT1 | Seb Lunke Gene: magt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.106 | MAGT1 | Seb Lunke Publications for gene: MAGT1 were set to PMID: 31036665 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.105 | MAGT1 | Seb Lunke Classified gene: MAGT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.105 | MAGT1 | Seb Lunke Gene: magt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.96 | MAGT1 | Ain Roesley Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.96 | MAGT1 |
Ain Roesley edited their review of gene: MAGT1: Added comment: PMID: 31036665; - 3 affecteds (males; 2x CDG and 1x XMEN) - All 3 patients have an N-glycosylation defect PMID: 31714901; - 23 XMEN patients from 17 families - glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation; Changed publications: 31036665, 31714901; Changed phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v0.96 | MAGT1 |
Ain Roesley gene: MAGT1 was added gene: MAGT1 was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: MAGT1 were set to PMID: 31036665 Phenotypes for gene: MAGT1 were set to Congenital disorder of glycosylation, type Icc (MIM# 301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) Penetrance for gene: MAGT1 were set to unknown Review for gene: MAGT1 was set to GREEN Added comment: PMID: 31036665; - 3 affecteds (males; 2x CDG and 1x XMEN) - All 3 patients have an N-glycosylation defect Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||