Epileptic encephalopathy

Gene: MAGI2

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

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

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

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

Red List (low evidence)

Insufficient evidence for diagnostic use to date - only large deletions reported

Created: 4 Feb 2016, 10:49 p.m.

Publications

• 18565486

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.