1. Panels
  2. Fetal anomalies
  3. DLG4
Genes in panel
Prev Next

Fetal anomalies

Gene: DLG4

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76
Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.76

Elizabeth Wall (Birmingham Women's and Children's Hospital)

I don't know

DLG4 linked with AD neurodevelopmental disorder (>100 cases, multiple families, concordant mouse KO model data). PMID: 33597769: (n=53) Postnatal phenotype of developmental delay, intellectual disability (most commonly in the mild-to-moderate range), autism spectrum disorder, +- epilepsy. Neuro regression in ~40%. Majority de novo protein truncating variants, 6 missense variants in protein binding domains (predicted damaging with protein modelling). No functional data. Postnatal MRI findings: Brain or cerebellar atrophy (8/52), Abnormalities of the corpus callosum (4/52), Abnormalities of the hippocampus, including a dysmorphic appearance (3/52). No prenatal presentation documented, most documented cases preset in early childhood. Not clear if corpus callosum abnormalities in this disorder could present prenatally.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 62, MIM#618793

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for DLG4 related intellectual disability
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
OMIM
602887
Clinvar variants
Variants in DLG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DLG4 were changed from DLG4 related intellectual disability; Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 to Intellectual developmental disorder, autosomal dominant 62, OMIM:618793

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to DLG4. Mode of inheritance for gene DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 for gene: DLG4 Publications for gene: DLG4 were updated from to 37347881

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: DLG4 was added gene: DLG4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber 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