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Intellectual disability update Jan 2018

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

1 review

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.
Created: 5 Mar 2018, 12:06 p.m.

Panel version: 0.313

Details

Sources
  • Expert Review Red
Phenotypes
  • Epileptic encephalopathy
  • Infantile spasms
OMIM
606382
Clinvar variants
Variants in MAGI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MAGI2 were set to 18565486; 27932480

5 Mar 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MAGI2 were set to Epileptic encephalopathy; Infantile spasms

5 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MAGI2 were set to 18565486

5 Mar 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MAGI2 were set to Epileptic encephalopathy, Infantile spasms

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAGI2 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MAGI2 was created by Ellen McDonagh