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  3. DLG4
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Cerebral Palsy

Gene: DLG4

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

1 review

Clare van Eyk (University of Adelaide)

I don't know

1 individual reported with mono-allelic stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.
Sources: Literature
Created: 27 May 2024, 5:15 a.m. | Last Modified: 27 May 2024, 5:16 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual developmental disorder, autosomal dominant 62, MIM#618793

Publications

Created: 27 May 2024, 5:15 a.m.
Last Modified: 27 May 2024, 5:16 a.m.
Panel version: 1.193

Details

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

History Filter Activity

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Red List (Low Evidence).

30 May 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dlg4 has been classified as Red List (Low Evidence).

27 May 2024, Gel status: 0

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

Clare van Eyk (University of Adelaide)

gene: DLG4 was added gene: DLG4 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DLG4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DLG4 were set to PMID: 38693247 Phenotypes for gene: DLG4 were set to Intellectual developmental disorder, autosomal dominant 62, MIM#618793 Review for gene: DLG4 was set to AMBER