Epileptic encephalopathy
Gene: MAGI2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Infantile Spasms
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Infantile Spasms
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Infantile Spasms
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Infantile Spasms
Publications
Variants in this GENE are reported as part of current diagnostic practice
Insufficient evidence for diagnostic use to date - only large deletions reportedCreated: 4 Feb 2016, 10:49 p.m.
Publications
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.
This gene has been classified as Red List (Low Evidence).
Publications for MAGI2 were set to Marshall et al (2008) Am J Hum Genet 83: 106_111
Phenotypes for MAGI2 were set to Infantile Spasms
This gene has been classified as Red List (Low Evidence).
MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Red,UKGTN
MAGI2All sources for gene: MAGI2were removed
MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Red,UKGTN
MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
MAGI2 was added to Epileptic encephalopathypanel. Sources: UKGTN,Expert Review Green
MAGI2All sources for gene: MAGI2were removed
The Gel status was updated for this whole panel
MAGI2 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
MAGI2 was added to Epileptic encephalopathypanel. Source: Expert Review Red
The Gel status was updated for this whole panel
MAGI2 was added to Epileptic encephalopathypanel. Sources: UKGTN