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  3. DLG4
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Aortopathy_Connective Tissue Disorders

Gene: DLG4

Green List (high evidence)
DLG4 (discs large MAGUK scaffold protein 4)
EnsemblGeneIds (GRCh38): ENSG00000132535
EnsemblGeneIds (GRCh37): ENSG00000132535
OMIM: 602887, Gene2Phenotype
DLG4 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Marfanoid habitus described in multiple affected individuals.
Created: 6 Oct 2021, 2:14 a.m. | Last Modified: 6 Oct 2021, 2:14 a.m.
Panel Version: 1.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder 62, MIM#618793; Marfanoid features

Publications

Created: 6 Oct 2021, 2:14 a.m.
Last Modified: 6 Oct 2021, 2:14 a.m.
Panel version: 1.58

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 33597769 - joint laxity reported in 13/38 patients, most patient variants were de novo PTCs
Sources: Literature
Created: 6 Oct 2021, 1:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Intellectual developmental disorder 62, MIM#618793

Publications

Created: 6 Oct 2021, 1:42 a.m.

Panel version: 1.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder 62, MIM#618793
  • Marfanoid features
OMIM
602887
Clinvar variants
Variants in DLG4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder 62, MIM#618793 to Intellectual developmental disorder 62, MIM#618793; Marfanoid features

6 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Green List (High Evidence).

6 Oct 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DLG4 were set to PMID: 33597769

6 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Green List (High Evidence).

6 Oct 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: DLG4 was added gene: DLG4 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLG4 were set to PMID: 33597769 Phenotypes for gene: DLG4 were set to Intellectual developmental disorder 62, MIM#618793 Review for gene: DLG4 was set to GREEN