Ataxia and cerebellar anomalies - narrow panel
Gene: DLG4
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
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
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
Tag Q4_23_promote_green was removed from gene: DLG4.
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)
Gene: dlg4 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DLG4 were changed from Intellectual developmental disorder, autosomal dominant 62 to Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
Publications for gene: DLG4 were set to PMID: 33597769
Tag Q4_23_promote_green tag was added to gene: DLG4.
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