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Fetal anomalies

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 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on phenotypes: The 'INTELLECTUAL DIABILITY phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' and the OMIM phenotype so the correct spelling is present for search purposes.
Created: 30 Apr 2019, 1:01 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although clefting is not a consistent feature (DDX3X is Amber on the V1.34 Clefting panel in PanelApp), there are enough other phenotypes to warrant inclusion: PMID:26235985 plus PMID:25533962 (DDD study) showing short stature and reduced head size (but no mention of age of onset).
Created: 29 Apr 2019, 2:52 p.m.
Additional evidence from PMID:30266093: XL, de novo het variant identified in DDX3X from fetal exome sequencing in Normand et al., 2018 (PMID:30266093).
Created: 18 Apr 2019, 3:22 p.m.
DDG2P rating in original PAGE list: Confirmed for INTELLECTUAL DIABILITY
Created: 11 Dec 2018, 9:04 a.m.
In the original PAGE file, MOI listed as both Hemizgyous and X-linked dominant for INTELLECTUAL DIABILITY (note typos in disorder name). In the original PAGE file, MOP listed as LOF for XLD ID, and listed as All missense/in frame for Hemizygous ID.
Created: 8 Nov 2018, 4:45 p.m.

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
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DIABILITY
  • Intellectual disability
  • Mental retardation, X-linked 102, 300958
OMIM
300160
Clinvar variants
Variants in DDX3X
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DDX3X were set to 30266093

30 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958

30 Apr 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY

18 Apr 2019, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DDX3X were set to

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes INTELLECTUAL DIABILITY for gene: DDX3X

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DDX3X was added gene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DDX3X were set to INTELLECTUAL DIABILITY