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Intellectual disability

Gene: MAGI2

Red List (low evidence)

MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000187391
EnsemblGeneIds (GRCh37): ENSG00000187391
OMIM: 606382, Gene2Phenotype
MAGI2 is in 8 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Not enough evidence in the literature to support the ID Phenotype. Variants of this gene (deletions) have been associated to Infantile spasms /epilepsy and more recently Familial nephrotic syndrome (PMD: 27932480) which is not relevant to this panel.
Created: 5 Mar 2018, 12:25 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
EARLY ONSET EPILEPTIC ENCEPHALOPATHY

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy
  • Infantile spasms
OMIM
606382
Clinvar variants
Variants in MAGI2
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 publications

Ellen McDonagh (Genomics England Curator)

Publications for gene MAGI2 was set to ['18565486', '27932480']

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

Created

Ellen McDonagh (Genomics England Curator)

MAGI2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Intellectual disabilitypanel. Sources: Expert Review Red