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  2. Congenital Disorders of Glycosylation
  3. MAGT1
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Congenital Disorders of Glycosylation

Gene: MAGT1

Green List (high evidence)
MAGT1 (magnesium transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000102158
EnsemblGeneIds (GRCh37): ENSG00000102158
OMIM: 300715, Gene2Phenotype
MAGT1 is in 8 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

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, 12:44 a.m. | Last Modified: 22 Jul 2020, 12:44 a.m.
Panel Version: 0.96

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

Created: 22 Jul 2020, 12:33 a.m.

Panel version: 0.96

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Icc (MIM# 301031)
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
OMIM
300715
Clinvar variants
Variants in MAGT1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: magt1 has been classified as Green List (High Evidence).

22 Jul 2020, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: MAGT1 were set to PMID: 31036665

22 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: magt1 has been classified as Green List (High Evidence).

22 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: 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