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Early onset or syndromic epilepsy

Gene: DDX3X

Green List (high evidence)
DDX3X (DEAD-box helicase 3, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000215301
EnsemblGeneIds (GRCh37): ENSG00000215301
OMIM: 300160, Gene2Phenotype
DDX3X is in 9 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

XLD/XLR MR 102. Snidjers Blok et al, 2015 - 38 families with mild to severe ID and neurological features where epilepsy was seen in 6/38 femles (16%). Testing in 3 males - vriants detected - non reported to have seizures. Wang et al, 2018 - 44 females, 3 males - variants detected - no mention in pper of epilepsy/seizure phenotype. In the supplementary info 1/12 patients in whom they had detailed clinical info had generalised tonic seizures ad another one had an EEG shownig diffuse slowing.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mental retardation, 300958

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on mode of inheritance: OMIM and Gene2Phenotype list MOI as both XLR and XLD.
Created: 22 Nov 2018, 2:42 p.m.
Comment on list classification: Updated rating from Amber to Green: Confirmed DD-G2P for X-linked intellectual disability. MIM:300958 disease includes seizures in some patients. 6 females in PMID:26235985 with 6 different DDX3X variants showed seizures (16%). Therefore sufficient cases for diagnostic rating.
Created: 22 Nov 2018, 2:41 p.m.
Snijders Blok et al. 2015 (PMID:26235985) present 35 unique deleterious de novo variants in DDX3X identified by WES in 38 females with ID and various other features. 6/38 indidivudals (16%) showed epilepsy (supplementary material: Individuals 7, 15,16,21,32,37 all of which had different DDX3X variants).
Created: 22 Nov 2018, 2:38 p.m.
Created: 22 Nov 2018, 2:38 p.m.

Panel version: 1.189

Zornitza Stark (Australian Genomics)

Green List (high evidence)

XL dominant. Seizures present in 16% in one case series.
Created: 12 Aug 2018, 6:12 a.m.

Mode of inheritance
Other

Phenotypes
Mental retardation, X-linked, MIM#300958

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 12 Aug 2018, 6:12 a.m.

Panel version: 0.315

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
OMIM
300160
Clinvar variants
Variants in DDX3X
Penetrance
None
Panels with this gene

History Filter Activity

21 Dec 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DDX3X were changed from Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DDX3X.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DDX3X.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: XL dominant. Seizures present

22 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ddx3x has been classified as Green List (High Evidence).

22 Nov 2018, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: DDX3X was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: ddx3x has been classified as Green List (High Evidence).

22 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: DDX3X was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DDX3X were changed from to Mental retardation, X-linked 102, 300958

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to DDX3X. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DDX3X was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DDX3X was created by Sarah Leigh