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  3. DLG5
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Fetal anomalies

Gene: DLG5

Green List (high evidence)
DLG5 (discs large MAGUK scaffold protein 5)
EnsemblGeneIds (GRCh38): ENSG00000151208
EnsemblGeneIds (GRCh37): ENSG00000151208
OMIM: 604090, Gene2Phenotype
DLG5 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.78

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

Green List (high evidence)

Monoallelic and biallelic variants reported in six cases from five unrelated families with variable ciliopathy phenotypes, supported with functional data demonstrating tissue specific ciliary defects. Homozygous null variants and dominant-negative heterozygous variants associated with severe multisystem fetal phenotypes (limb anomalies, cystic kidneys, CHD, craniofacial anomalies). Homozygous null variants reported in 2 fetuses with multiple congenital anomalies and asymptomatic heterozygous parents. 1 fetus with hydrocephalus, limb anomalies, craniofacial anomalies, supported with functional data (PMID: 32631816). 1 fetus with hydrocephalus, CHD, cleft lip and palate, cystic kidney disease and a sib fetus with cystic kidneys and ventriculomegaly (PMID: 30791088). Also 1 case with compound het missense variants and steroid resistant nephrotic syndrome, asymptomatic parents. Functional studies (frog model) predicted LOF effect (PMID: 32631816). Heterozygous dominant negative p.Arg249Trp missense variant in fetus with limb anomalies, severe cystic kidney and congenital heart disease, functional studies demonstrated DN mechanism (PMID 32631816). Heterozygous hypomorphic missense variant p.Gln1509Leu variant associated with a mild CAKUT phenotype (PMID 32631816). Sufficient evidence for biallelic MOI only.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Yuksel-Vogel-Bauser syndrome, MIM#620703

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Yuksel-Vogel-Bauser syndrome, OMIM:620703
OMIM
604090
Clinvar variants
Variants in DLG5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: DLG5. Tag Q1_25_ promote_green was removed from gene: DLG5.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to DLG5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: DLG5. Tag Q1_25_ promote_green tag was added to gene: DLG5.

20 Feb 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: DLG5 was added gene: DLG5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLG5 were set to 32631816; 30791088 Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauser syndrome, OMIM:620703