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Intellectual disability

Gene: DLG1

Amber List (moderate evidence)

DLG1 (discs large MAGUK scaffold protein 1)
EnsemblGeneIds (GRCh38): ENSG00000075711
EnsemblGeneIds (GRCh37): ENSG00000075711
OMIM: 601014, Gene2Phenotype
DLG1 is in 5 panels

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

I don't know

This is a homolog of the ID gene DLG3 and is within the 3q29 microdeletion, microduplication region reported in more than 6 patients, which may be why it is a candidate gene in PMID 26350204 and PMID 24896178. One of 22 genes included in 3q29 microduplication reported in PMID 24838842, and one of 20 genes involved a microdeletion in this region encompassing 20 genes in PMID 20830797, both of which have several genes implicated in neuronal development and synaptic function. 6 cases reported in 15918153 with a 3q29 microdeletion. Gene not present in Gene2Phenotype, and not related to a disease in OMIM. Rare variants may increase susceptibility PMID:27271353.
Created: 27 Oct 2017, 2:46 p.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Amber
  • Expert Review Red
Tags
watchlist microdeletion microduplication
OMIM
601014
Clinvar variants
Variants in DLG1
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 DLG1. Panel: Intellectual disability Publications for gene DLG1 was set to ['26350204', '24896178', ' 24838842', '20830797', '15918153']

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)

DLG1 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DLG1 was created by ellenmcdonagh