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Newborns main panel

Gene: MAGT1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Other phenotypes with same MOI not included.

Additional Information: X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia is included in the study. This gene is also associated with XLR Congenital disorder of glycosylation which is not included.
Created: 26 Sep 2024, 3:49 p.m. | Last Modified: 19 Nov 2025, 1:03 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 3:49 p.m.
Last Modified: 19 Nov 2025, 1:03 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
clinical validity 36 cases PMID: 32451662
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
MOI reviewed by clinical team. Mafalda Gomes comment: No affected females.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.
Panel Version: 0.40

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

Phenotypes
X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
Tags
special_consideration
OMIM
300715
Clinvar variants
Variants in MAGT1
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: MAGT1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia for gene: MAGT1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia for gene: MAGT1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia for gene: MAGT1

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to MAGT1. Added phenotypes X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia for gene: MAGT1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to MAGT1. Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia for gene: MAGT1

9 Mar 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: MAGT1 was added gene: MAGT1 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females