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  3. DLG4
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Fetal anomalies

Gene: DLG4

Red List (low evidence)
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53 patients (42 previously unpublished) with DLG4 variants.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

Created: 15 Jun 2021, 3:32 a.m.
Last Modified: 15 Jun 2021, 3:32 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3863

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Comment when marking as ready: Clinical presentation is post-natal.
Created: 15 Jan 2022, 8:30 a.m. | Last Modified: 15 Jan 2022, 8:30 a.m.
Panel Version: 0.2286
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: 0.2282

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder 62, MIM# 618793
OMIM
602887
Clinvar variants
Variants in DLG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jan 2022, 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).

15 Jan 2022, 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).

15 Jan 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Jan 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLG4 were set to

15 Jan 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLG4 was added gene: DLG4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DLG4 were set to DLG4 related intellectual disability