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  3. DDX23
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Intellectual disability

Gene: DDX23

Green List (high evidence)
DDX23 (DEAD-box helicase 23)
EnsemblGeneIds (GRCh38): ENSG00000174243
EnsemblGeneIds (GRCh37): ENSG00000174243
OMIM: 612172, Gene2Phenotype
DDX23 is in 2 panels

5 reviews

Eleanor Williams (Genomics England Curator)

This gene currently has no phenotype listed in OMIM so checked PMID:34050707 to make sure it is the same gene name listed. It is, so added the gene-checked tag.
Created: 16 Oct 2023, 5:01 p.m. | Last Modified: 16 Oct 2023, 5:01 p.m.
Panel Version: 5.312
Created: 16 Oct 2023, 5:01 p.m.
Last Modified: 16 Oct 2023, 5:01 p.m.
Panel version: 5.312

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence for this gene to be promoted to GREEN at the next GMS review.
Created: 1 May 2023, 1:18 p.m. | Last Modified: 1 May 2023, 1:18 p.m.
Panel Version: 5.71
As reviewed by Zornitza Stark (Australian Genomics), there are nine patients reported with global developmental delay in PMID:34050707, out of which five also had autism or autistic-like features.

This gene has not yet been reported in OMIM, but has been reported in DD panel of Gene2Phenotype database (with a 'moderate' rating).
Created: 1 May 2023, 1:16 p.m. | Last Modified: 1 May 2023, 1:16 p.m.
Panel Version: 5.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
global developmental delay with speech and behavioral abnormalities, MONDO:0030995

Publications

Created: 1 May 2023, 1:16 p.m.
Last Modified: 1 May 2023, 1:16 p.m.
Panel version: 5.70

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
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

Created: 3 Nov 2020, 10:53 p.m.

Panel version: 3.1332

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Global developmental delay with speech and behavioral abnormalities, MONDO:0030995
Tags
gene-checked
OMIM
612172
Clinvar variants
Variants in DDX23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: DDX23.

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DDX23 were changed from Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DDX23 were changed from Global developmental delay with speech and behavioral abnormalities, MONDO:0030995 to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DDX23 were changed from Developmental disorder to Global developmental delay with speech and behavioral abnormalities, MONDO:0030995

11 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist was removed from gene: DDX23. Tag Q2_23_promote_green was removed from gene: DDX23.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to DDX23. Source Expert Review Green was added to DDX23. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

1 May 2023, Gel status: 2

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: DDX23.

1 May 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

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