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MAGT1

magnesium transporter 1

HCNC Approved Symbol
MAGT1 (HGNC:28880)
Genomic Coordinates
23:77,825,747 - 77,895,568 (Xq21.1)
Synonyms
DKFZp564K142, IAP, OST3B, MRX95, SLC58A1
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Congenital disorder of glycosylation, type Icc
301031X-linked recessive
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
300853X-linked recessive

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the MAGT1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Combined immunodeficiency
 1 (100.0%)
Decreased circulating antibody level
 1 (100.0%)
Hypogammaglobulinemia
 1 (100.0%)
Mental retardation
 1 (100.0%)
Recurrent infections
 1 (100.0%)