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Intellectual disability

Gene: DLG2

Amber List (moderate evidence)

DLG2 (discs large MAGUK scaffold protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150672
EnsemblGeneIds (GRCh37): ENSG00000150672
OMIM: 603583, Gene2Phenotype
DLG2 is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

I don't know

Not in OMIM or Gene2Phenotype related to a disease. PMID: 28724449 - identified two new promoters for the human DLG2 gene, and report deletions in two patients combined with data from DECIPHER and other databases. In both cases and several database cases, the mother of the proband also carried the deletion but were unaffected.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
Tags
epigenetics
OMIM
603583
Clinvar variants
Variants in DLG2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to DLG2. Panel: Intellectual disability Publications for gene DLG2 was set to ['28724449']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DLG2 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DLG2 was created by ellenmcdonagh