Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: MAGI2

Green List (high evidence)

MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000187391
EnsemblGeneIds (GRCh37): ENSG00000187391
OMIM: 606382, Gene2Phenotype
MAGI2 is in 6 panels

10 reviews

Helen Lord (Oxford Medical Genetics Laboratories)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: Updated Mode of Inheritance from 'BOTH monoallelic and biallelic' to 'BIALLELIC' based on Post-Webex review by Helen Lord (AD inheritance was based on deletions including the MAGI2 gene).
Created: 7 Sep 2019, 11:36 a.m. | Last Modified: 7 Sep 2019, 11:36 a.m.
Panel Version: 1.281
Mode of inheritance collated by Helen Lord (Oxford University Hospitals NHS Foundation Trust, 2019_08_30) on behalf of West Midlands, Oxford and Wessex GLH for GMS Neurology specialist test group. This gene is part of a subset where the mode of inheritance was re-reviewed following the group Webex call on 2019_08_08 for Clinical Indication R59 Early onset or syndromic epilepsy. No rating was included in the review, so I have uploaded a Green rating to match the original West Midlands, Oxford and Wessex GLH rating.
Created: 5 Sep 2019, 2:26 p.m. | Last Modified: 5 Sep 2019, 2:26 p.m.
Panel Version: 1.262
Comment on mode of inheritance: OMIM lists AR inheritance for 'Nephrotic syndrome, type 15' (MIM:617609). Gene2Phenotype lists 'monoallelic' inheritance for EARLY ONSET EPILEPTIC ENCEPHALOPATHY based on PMID:18565486 which examines deletions spanning MAGI2.
Created: 13 Aug 2019, 1:04 p.m. | Last Modified: 7 Sep 2019, 11:35 a.m.
Panel Version: 1.280
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Seizures can be part of a larger 7q11.23-q21.11 deletion and may be part of Nephrotic syndrome. AR nephrotic syndrome type 15 (NPHS15) - on pubmed. In OMIM Marshall et al 2008 - infantile spasms (IS) most severe and common form of epilepsy in early life - found 7q11.23-q21.1 interstital deletions locus for IS. The breakpoints delineate a 500kb interval within the MAG12 gene (1.4Mb in size) that is hemizygously disrupted in 15/16 participants with IS or childhood epilepsy but remains intact in 11 of 12 patients with no seizure history.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 15, 617609

Publications

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance:
OMIM reports homozygous and compound heterozygous variants in Nephrotic syndrome, type 15 617609 (PMID 27932480), whereas Gen2Phen reports hemizygous microdeletions of a 1.5 Mb region of chromosome 7q11.23 encompassing the MAGI2 gene (PMID 18565486).

Created: 7 Nov 2018, 3:29 p.m.
Comment on phenotypes: Biallelic frame shifting truncating variants associated with Nephrotic syndrome, type 15 617609
Created: 26 Sep 2018, 3:42 p.m.

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
Created: 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.
Created: 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.
Created: 23 Nov 2015, 5:40 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • UKGTN
Phenotypes
  • Nephrotic syndrome, type 15 617609
  • Infantile Spasms
Tags
cnv
OMIM
606382
Clinvar variants
Variants in MAGI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Sep 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MAGI2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

13 Aug 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MAGI2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MAGI2.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MAGI2.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: The 4 reviewers decided that t

7 Nov 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MAGI2 were set to 18565486

7 Nov 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: MAGI2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Nov 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Nephrotic syndrome, type 15 617609; Infantile Spasms

7 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: magi2 has been classified as Green List (High Evidence).

7 Nov 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: MAGI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: magi2 has been classified as Red List (Low Evidence).

26 Sep 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MAGI2 were changed from Infantile Spasms to Infantile Spasms

26 Sep 2018, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag cnv tag was added to gene: MAGI2.

31 Jul 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MAGI2 were set to 18565486

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MAGI2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,UKGTN

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MAGI2 was created by Sarah Leigh