Intellectual disability update Jan 2018
Gene: MAGT1

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

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Update in OMIM. Variant formerly associated to MENTAL RETARDATION, X-LINKED 95 based on the report of Molinari et al. (2008) PMID: 18455129 has been reclassified based on the findings of Piton et al. (2013) PMID: 23871722 and further cases found by Li et al. (2011) PMID: 21796205 and is now associated to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia. This gene is not associated to an intellectual disability phenotype.
Created: 19 Feb 2018, 4:45 p.m.

Created: 19 Feb 2018, 4:45 p.m.

Panel version: 0.35

Details

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853

OMIM

300715

Clinvar variants

Variants in MAGT1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

19 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MAGT1 were set to 18455129; 23871722; 21796205

19 Feb 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, 300853

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAGT1 was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red