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Intellectual disability

Gene: MAGT1

Red List (low evidence)

MAGT1 (magnesium transporter 1)
EnsemblGeneIds (GRCh38): ENSG00000102158
EnsemblGeneIds (GRCh37): ENSG00000102158
OMIM: 300715, Gene2Phenotype
MAGT1 is in 10 panels

4 reviews

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.

Caroline Wright (Sanger)

Red List (low evidence)

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

Phenotypes
MENTAL RETARDATION X-LINKED TYPE 95 (MRX95)

Publications

Ellen McDonagh (Genomics England Curator)

PMID: 23871722 association with X-linked intellectual disability is questioned.
Created: 3 Jun 2016, 2:32 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to MAGT1.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene MAGT1 was set to ['18455129', '23871722', '21796205']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MAGT1 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAGT1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen