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  3. DDX17
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Intellectual disability

Gene: DDX17

Green List (high evidence)
DDX17 (DEAD-box helicase 17)
EnsemblGeneIds (GRCh38): ENSG00000100201
EnsemblGeneIds (GRCh37): ENSG00000100201
OMIM: 608469, Gene2Phenotype
DDX17 is in 3 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 24 Feb 2025, 6:15 p.m. | Last Modified: 24 Feb 2025, 6:15 p.m.
Panel Version: 8.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 24 Feb 2025, 6:15 p.m.
Last Modified: 24 Feb 2025, 6:15 p.m.
Panel version: 8.97

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Created: 23 Oct 2024, 1 p.m. | Last Modified: 23 Oct 2024, 1 p.m.
Panel Version: 7.63
As reviewed by Hannah Knight, PMID:39405200 reported the identification of 11 unrelated individuals with heterozygous de novo variants in DDX17 gene. The clinical presentations included mild-moderate intellectual disability (ID), delayed speech and language development, global developmental delay and dysmorphic facial features. Some patients also have gross and fine motor delay, generalized hypotonia, stereotypy, and evidence of autism spectrum disorder. ID was present in eight of 11 individuals, of which it was mild in three, mild-moderate in two, moderate in two and not defined in one.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Created: 23 Oct 2024, 12:58 p.m. | Last Modified: 23 Oct 2024, 12:58 p.m.
Panel Version: 7.61

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

Created: 23 Oct 2024, 12:58 p.m.
Last Modified: 23 Oct 2024, 12:58 p.m.
Panel version: 7.61

Hannah Knight (NIHR BioResource - University of Cambridge)

Green List (high evidence)

PMID: 39405200 (2024) - new paper identified 11 patients with de novo, monoallelic variants in DDX17 and neurodevelopmental phenotypes + experimental evidence
Sources: Literature
Created: 17 Oct 2024, 3:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; delayed speech and language; motor delay

Publications

Created: 17 Oct 2024, 3:11 p.m.

Panel version: 7.61

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
gene-checked
OMIM
608469
Clinvar variants
Variants in DDX17
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: DDX17.

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: DDX17. Tag Q3_24_NHS_review was removed from gene: DDX17.

24 Feb 2025, Gel status: 3

Added New Source, Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source NHS GMS was added to DDX17. Source Expert Review Green was added to DDX17. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

23 Oct 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: ddx17 has been classified as Amber List (Moderate Evidence).

23 Oct 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DDX17 were changed from Intellectual disability; delayed speech and language; motor delay to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

23 Oct 2024, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: DDX17 were set to PMID: 39405200

23 Oct 2024, Gel status: 0

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: DDX17. Tag Q3_24_NHS_review tag was added to gene: DDX17.

17 Oct 2024, Gel status: 0

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

Hannah Knight (NIHR BioResource - University of Cambridge)

gene: DDX17 was added gene: DDX17 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX17 were set to PMID: 39405200 Phenotypes for gene: DDX17 were set to Intellectual disability; delayed speech and language; motor delay Review for gene: DDX17 was set to GREEN