Congenital disorders of glycosylation
Gene: MAGT1
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
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 glycosylationCreated: 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
Variants in this GENE are reported as part of current diagnostic practice
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:0010455Created: 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 patientsCreated: 19 Dec 2016, 1:44 p.m.
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
Tag Q2_21_phenotype was removed from gene: MAGT1. Tag Q2_22_rating was removed from gene: MAGT1. Tag Q2_22_expert_review was removed from gene: MAGT1.
Source Expert Review Green was added to MAGT1. Source NHS GMS was added to MAGT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_22_rating tag was added to gene: MAGT1.
Tag Q2_22_expert_review tag was added to gene: MAGT1.
Phenotypes for gene: MAGT1 were changed from Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation)
Tag Skewed X-inactivation tag was added to gene: MAGT1. Tag Q2_21_phenotype tag was added to gene: MAGT1.
Gene: magt1 has been classified as Amber List (Moderate Evidence).
Publications for gene: MAGT1 were set to 27604308; 27393411
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MAGT1 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Red List (Low Evidence).
Publications for MAGT1 were set to 27604308; 27393411
MAGT1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
MAGT1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
MAGT1 was added to Congenital disorders of glycosylationpanel. Sources: Literature
MAGT1 was created by sleigh