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Gene: DLG3

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

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

At least 6 unrelated families reported. Affected males presented with cognitive impairment, ranging from mild to severe, and some showed additional clinical features such as seizures, abnormal behavior, and facial dysmorphisms. Heterozygous females have been reported to have variable symptoms due to skewed X-inactivation mainly asymptomatic or mildly affected and rarely severely affected.
Created: 12 Dec 2024, 2:37 a.m. | Last Modified: 12 Dec 2024, 2:37 a.m.
Panel Version: 1.714

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

Phenotypes
Intellectual developmental disorder, X-linked 90 MIM#300850

Publications

Created: 12 Dec 2024, 2:37 a.m.
Last Modified: 12 Dec 2024, 2:37 a.m.
Panel version: 1.714

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, X-linked 90 MIM#300850
OMIM
300189
Clinvar variants
Variants in DLG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg3 has been classified as Green List (High Evidence).

13 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG3 were changed from Mental retardation, X-linked 90, 300850 (3) to Intellectual developmental disorder, X-linked 90 MIM#300850

13 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLG3 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Mental retardation, X-linked 90, 300850 (3) for gene: DLG3

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DLG3 was added gene: DLG3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 90, 300850 (3)