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Intellectual disability

Gene: MAGED1

Red List (low evidence)

MAGED1 (MAGE family member D1)
EnsemblGeneIds (GRCh38): ENSG00000179222
EnsemblGeneIds (GRCh37): ENSG00000179222
OMIM: 300224, Gene2Phenotype
MAGED1 is in 1 panel

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: Candidate intellectual disability gene suggested by Grozeva et al, (2015) PMID: 26350204 and recent paper on large deletion including MAGD1 giving a ID phenotype Grau et al., (2017) PMID: 28414775
Created: 5 Mar 2018, noon
This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204. Recently Grau et al., (2017) PMID: 28414775 identified four males from three families with intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly who carried small, overlapping deletions of Xp11.22.
The results suggested that deletions of an ~430 kb region on chromosome Xp11.22 that encompass CENPVL1, CENPVL2, GSPT2 and MAGED1 caused a distinct X-linked syndrome characterized by intellectual disability, developmental delay, hypotonia, joint hypermobility and relative macrocephaly. Changes in MAGED1 have not been associated with intellectual disability in humans, but loss of MAGED1 function is associated with neurocognitive and neurobehavioral phenotypes in mice PMID: 24700102, 22865874. However there is currently not enough evidence to support the association between specific variants of this MAGED1 and an observed intellectual disability phenotype for this gene to be rated Amber or Green
This gene is also not currently a DD gene in Gene2Phenotype.
Created: 5 Mar 2018, 11:42 a.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

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
Phenotypes
  • X-linked syndrome characterized by intellectual disability
OMIM
300224
Clinvar variants
Variants in MAGED1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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 mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene MAGED1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene MAGED1 was set to ['28414775', '24700102', '22865874']

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: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAGED1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MAGED1 was created by ellenmcdonagh