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Intellectual disability syndromic and non-syndromic

Gene: DLG2

Amber List (moderate evidence)

DLG2 (discs large MAGUK scaffold protein 2)
EnsemblGeneIds (GRCh38): ENSG00000150672
EnsemblGeneIds (GRCh37): ENSG00000150672
OMIM: 603583, Gene2Phenotype
DLG2 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 37860969 - 13 patients from 10 families with neurodevelopmental disorders, dysmorphic features and intragenic deletions including both exonic (minimal affect all transcripts) and UTR regions.
Majority of variants were inherited, some de novo. But many NMD PTCs in gnomAD (some looking messy, in noncanonical transcript etc.)
Sources: Literature
Created: 2 Nov 2023, 1:31 a.m.

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

Phenotypes
Intellectual disability (MONDO#0001071), DLG2-related

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability (MONDO#0001071), DLG2-related
Tags
SV/CNV
OMIM
603583
Clinvar variants
Variants in DLG2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Nov 2023, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: DLG2.

2 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: dlg2 has been classified as Amber List (Moderate Evidence).

2 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: dlg2 has been classified as Red List (Low Evidence).

2 Nov 2023, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: DLG2 was added gene: DLG2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: DLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DLG2 were set to PMID: 37860969 Phenotypes for gene: DLG2 were set to Intellectual disability (MONDO#0001071), DLG2-related Review for gene: DLG2 was set to AMBER