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Intellectual disability syndromic and non-syndromic

Gene: DDX17

Green List (high evidence)

DDX17 (DEAD-box helicase 17)
EnsemblGeneIds (GRCh38): ENSG00000100201
EnsemblGeneIds (GRCh37): ENSG00000100201
OMIM: 608469, Gene2Phenotype
DDX17 is in 2 panels

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

https://www.medrxiv.org/search/DDX17 (pre-print)
11 patients with het de novo variants in DDX17 (5 NMD, 6 missense). Patient's phenotype included mild-moderate intellectual disability, delayed speech and language development and global developmental delay. 64% had dysmorphic facial features. Some patients also have gross and fine motor delay, generalized hypotonia, stereotypy, and evidence of autism spectrum disorder.

Knockdown of Ddx17 in newborn mice showed impaired axon outgrowth and reduced axon outgrowth and branching was observed in primary cortical neurons in vitro. This result was replicated in Crispant Xenopus tadpoles, which had clear functional neural defects and showed an impaired neurobehavioral phenotype.
Sources: Literature
Created: 7 Dec 2023, 1:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder (MONDO#0700092), DDX17-related

Publications

  • https://www.medrxiv.org/search/DDX17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neurodevelopmental disorder (MONDO#0700092), DDX17-related
OMIM
608469
Clinvar variants
Variants in DDX17
Penetrance
None
Publications
  • https://www.medrxiv.org/search/DDX17
Panels with this gene

History Filter Activity

7 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ddx17 has been classified as Green List (High Evidence).

7 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ddx17 has been classified as Green List (High Evidence).

7 Dec 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: ddx17 has been removed from the panel.

7 Dec 2023, Gel status: 0

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

Melanie Marty (Victorian Clinical Genetics Services)

gene: DDX17 was added gene: DDX17 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DDX17 were set to https://www.medrxiv.org/search/DDX17 Phenotypes for gene: DDX17 were set to Neurodevelopmental disorder (MONDO#0700092), DDX17-related Review for gene: DDX17 was set to GREEN