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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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

At least 6 unrelated families reported. Clinical presentation is typically post-natal.
Created: 31 Mar 2020, 3:57 a.m. | Last Modified: 17 Feb 2022, 7:02 a.m.
Panel Version: 0.3619

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

Phenotypes
Mental retardation, X-linked 90, MIM#300850

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, X-linked 90, MIM#300850
OMIM
300189
Clinvar variants
Variants in DLG3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg3 has been classified as Red List (Low Evidence).

17 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG3 were changed from MENTAL RETARDATION X-LINKED TYPE 90 to Mental retardation, X-linked 90, MIM#300850

17 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLG3 were set to

24 Oct 2021, Gel status: 1

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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp 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