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Intellectual disability syndromic and non-syndromic
Gene: DLG4

DLG4 (discs large MAGUK scaffold protein 4)
EnsemblGeneIds (GRCh38): ENSG00000132535
EnsemblGeneIds (GRCh37): ENSG00000132535
OMIM: 602887, Gene2Phenotype
DLG4 is in 6 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

53 patients (42 previously unpublished) with DLG4 variants. The clinical picture predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit–hyperactivity disorder.
Created: 15 Jun 2021, 3:32 a.m. | Last Modified: 15 Jun 2021, 3:32 a.m.

Panel Version: 0.3863

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder 62

Publications

PMID: 33597769

Created: 15 Jun 2021, 3:32 a.m.
Last Modified: 15 Jun 2021, 3:32 a.m.
Panel version: 0.3863

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated individuals reported.
Created: 1 Feb 2020, 9:37 a.m. | Last Modified: 1 Feb 2020, 9:37 a.m.

Panel Version: 0.1896

In vitro and animal model evidence only.
Created: 30 Nov 2019, 11:48 p.m. | Last Modified: 30 Nov 2019, 11:48 p.m.

Panel Version: 0.96

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; Marfanoid habitus

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Nov 2019, 11:48 p.m.
Last Modified: 30 Nov 2019, 11:48 p.m.
Panel version: 0.1896

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Intellectual developmental disorder 62, MIM# 618793

OMIM

Clinvar variants

Variants in DLG4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

15 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder 62 618793 to Intellectual developmental disorder 62, MIM# 618793

15 Jun 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG4 were changed from Intellectual disability; Marfanoid habitus to Intellectual developmental disorder 62 618793

15 Jun 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Green List (High Evidence).

1 Feb 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus

1 Feb 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLG4 were set to

1 Feb 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DLG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Green List (High Evidence).

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Red List (Low Evidence).

30 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLG4 was added gene: DLG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLG4 was set to Unknown