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Intellectual disability

Gene: DDX23

Amber List (moderate evidence)

DDX23 (DEAD-box helicase 23)
EnsemblGeneIds (GRCh38): ENSG00000174243
EnsemblGeneIds (GRCh37): ENSG00000174243
OMIM: 612172, Gene2Phenotype
DDX23 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Created: 4 Dec 2020, 2:08 p.m. | Last Modified: 4 Dec 2020, 2:08 p.m.
Panel Version: 3.578

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 34050707: 9 unrelated individuals (gathered through GeneMatcher) with de novo missense alterations in DDX23. Clinical features include: tone abnormalities, global developmental delay, facial dysmorphism, autism spectrum disorder, and seizures. Additionally, there were a variety of other findings in the skeletal, renal, ocular, and cardiac systems. The missense alterations all occurred within a highly conserved RecA-like domain of the protein, and are located within or proximal to the DEAD box sequence. The gene is ubiquitously expressed and functions in RNA splicing, maintenance of genome stability, and the sensing of double-stranded RNA.
Created: 9 Oct 2021, 8:01 a.m. | Last Modified: 9 Oct 2021, 8:01 a.m.
Panel Version: 3.1332
PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio developmental disorder study. 6 de novo missense identified in ~10,000 cases with developmental disorders (rated Amber as no other phenotype info provided).
Sources: Literature
Created: 3 Nov 2020, 10:53 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorder

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Developmental disorder
Tags
watchlist
OMIM
612172
Clinvar variants
Variants in DDX23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DDX23 were set to 33057194

4 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: ddx23 has been classified as Amber List (Moderate Evidence).

4 Dec 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: DDX23.

3 Nov 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: DDX23 was added gene: DDX23 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DDX23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX23 were set to 33057194 Phenotypes for gene: DDX23 were set to Developmental disorder Review for gene: DDX23 was set to AMBER