Ataxia and cerebellar anomalies - narrow panel
Gene: DLG4EnsemblGeneIds (GRCh38): ENSG00000132535
EnsemblGeneIds (GRCh37): ENSG00000132535
OMIM: 602887, Gene2Phenotype
DLG4 is in 4 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 2 May 2024, 11:50 a.m. | Last Modified: 2 May 2024, 11:50 a.m.
Panel Version: 5.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Dmitrijs Rots, there are nine unrelated cases reported with monoallelic DLG4 variants and ataxia. Hence, this gene can be promoted to green rating in the next GMS review.Created: 5 Jan 2024, 6:58 p.m. | Last Modified: 5 Jan 2024, 6:58 p.m.
Panel Version: 4.49
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
Dmitrijs Rots (Children's Clinical University Hospital)
PMID: 33597769 described a large cohort with DLG4-synaptopathy, where at least 19 individuals are with movement disorders, and 9 are with ataxia.
Sources: LiteratureCreated: 20 Nov 2023, 5:23 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder, autosomal dominant 62
Publications
- PMID: 33597769
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
- OMIM
- 602887
- Clinvar variants
- Variants in DLG4
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: DLG4.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to DLG4. Source NHS GMS was added to DLG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: dlg4 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder, autosomal dominant 62 to Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: DLG4 were set to PMID: 33597769
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: DLG4.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Dmitrijs Rots (Children's Clinical University Hospital)gene: DLG4 was added gene: DLG4 was added to Ataxia and cerebellar anomalies - narrow panel. 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: 33597769 Phenotypes for gene: DLG4 were set to Intellectual developmental disorder, autosomal dominant 62 Penetrance for gene: DLG4 were set to Complete Review for gene: DLG4 was set to GREEN