Congenital disorders of glycosylation

Gene: MAGT1

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.

Panel Version: 3.4

Green List (high evidence)

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

Created: 22 Jul 2020, 8:16 a.m. | Last Modified: 22 Jul 2020, 8:16 a.m.

Panel Version: 2.14

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Congenital disorder of glycosylation, type Icc (MIM# 301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)

Publications

• 31036665
• 31714901

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Comment on phenotypes: Congenital disorder of glycosylation, type Icc OMIM:301031; congenital disorder of glycosylation, type ICC MONDO:0026729;Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia OMIM:300853;X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia MONDO:0010455

Created: 8 Feb 2021, 3:50 p.m. | Last Modified: 8 Feb 2021, 3:50 p.m.

Panel Version: 2.50

PMID 31036665 and PMID 31714901 demonstrate that variants in MAGT1 can result in disruption of glycosylation. This effect could be rescued in vitro by transfection of MAGT1 mRNA (PMID 31714901).
This gene is subject to skewed X-inactivation.

Created: 8 Feb 2021, 3:46 p.m. | Last Modified: 8 Feb 2021, 3:46 p.m.

Panel Version: 2.49

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 8 Feb 2021, 3:15 p.m. | Last Modified: 8 Feb 2021, 3:15 p.m.

Panel Version: 2.49

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two variants reported in mmunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853, but according to Expert reviewer Daniel Ungar there is no evidence reported yet for glycosylation defects in patients

Created: 19 Dec 2016, 1:44 p.m.

Red List (low evidence)

XMEN disease (X-linked immunodeficiency with magnesium defect and EBV infection and neoplasia)
No evidence reported yet for glycosylation defects in patients - See also TUSC3.

Created: 14 Dec 2016, 2:09 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

• 27393411