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Epileptic encephalopathy

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 5 panels

6 reviews

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Infantile Spasms

Publications

  • Marshall et al (2008) Am J Hum Genet 83: 106_111,

Variants in this GENE are reported as part of current diagnostic practice

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Infantile Spasms

Publications

  • Marshall et al (2008) Am J Hum Genet 83: 106_111,

Variants in this GENE are reported as part of current diagnostic practice

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Infantile Spasms

Publications

  • Marshall et al (2008) Am J Hum Genet 83: 106_111,

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Infantile Spasms

Publications

  • Marshall et al (2008) Am J Hum Genet 83: 106 111,

Variants in this GENE are reported as part of current diagnostic practice

Richard Scott (Genomics England Curator)

Red List (low evidence)

Insufficient evidence for diagnostic use to date - only large deletions reported
4 Feb 2016, 10:49 p.m.

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Reviews later agreed by email that the gene should be red due to lack of evidence beyond multigenic deletions. It is a possible DD gene, and so not strong evidence.
29 Jan 2016, 11:36 a.m.
The 4 reviewers decided that this gene should actually be rated red, due to lack of evidence beyond multigenic deletions.
23 Nov 2015, 5:40 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Infantile Spasms
OMIM
606382
Clinvar variants
Variants in MAGI2
Penetrance
Complete
Publications
  • Marshall et al (2008) Am J Hum Genet 83: 106_111
Panels with this gene

History Filter Activity

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Jan 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for MAGI2 were set to Marshall et al (2008) Am J Hum Genet 83: 106_111

29 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for MAGI2 were set to Infantile Spasms

29 Jan 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

23 Nov 2015, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Red,UKGTN

23 Nov 2015, Gel status: 4

clearsources

Ellen McDonagh (Genomics England Curator)

MAGI2All sources for gene: MAGI2were removed

23 Nov 2015, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Red,UKGTN

13 Nov 2015, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert Review Green

13 Nov 2015, Gel status: 1

clearsources

Ellen McDonagh (Genomics England Curator)

MAGI2All sources for gene: MAGI2were removed

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Epileptic encephalopathypanel. Source: Expert Review Red

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

1 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Epileptic encephalopathypanel. Sources: UKGTN