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  3. DLG3
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Fetal anomalies

Gene: DLG3

Red List (low evidence)
DLG3 (discs large MAGUK scaffold protein 3)
EnsemblGeneIds (GRCh38): ENSG00000082458
EnsemblGeneIds (GRCh37): ENSG00000082458
OMIM: 300189, Gene2Phenotype
DLG3 is in 6 panels

5 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

Red List (low evidence)

38249294 - 7 cases with epilepsy but no prenatal findings. 7 unrelated cases with epilepsy. No prenatal phenotype (PMID: 38249294). In two Finnish families (8 cases all male) two novel splice donor site mutations (c.357_+_1G_>_C and c.985_+_1G_>_C) were identified in the DLG3 gene. Affected males presented with mild to moderate ID, normal growth, narrow thorax, molar hypoplasia, short up-slanting palpbral fissures, a high vaulted palate, and hypotonia (PMID: 24721225).
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
intellectual disability, X-linked 90, MONDO:0010452; Intellectual developmental disorder, X-linked 90, OMIM:300850

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Natalie Canham (Liverpool Women's Hospital)

I don't know

Not able to retrieve pre-print article. For further review in next round.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked 90, OMIM:300850

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted DLG3 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED TYPE 90
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED TYPE 90
  • intellectual disability, X-linked 90, MONDO:0010452
  • Intellectual developmental disorder, X-linked 90, OMIM:300850
OMIM
300189
Clinvar variants
Variants in DLG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to DLG3. Source Expert Review Red was added to DLG3. Added phenotypes intellectual disability, X-linked 90, MONDO:0010452; Intellectual developmental disorder, X-linked 90, OMIM:300850 for gene: DLG3 Publications for gene: DLG3 were updated from to 38249294; 40983642 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Intellectual developmental disorder, X-linked 90, OMIM:300850 for gene: DLG3

9 Mar 2026, Gel status: 2

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Amber was added to DLG3. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to DLG3. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DLG3 was added gene: DLG3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90