Fetal anomalies
Gene: DDX3X

DDX3X (DEAD-box helicase 3, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000215301
EnsemblGeneIds (GRCh37): ENSG00000215301
OMIM: 300160, Gene2Phenotype
DDX3X is in 9 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.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.225

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 developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958

OMIM

300160

Clinvar variants

Variants in DDX3X

Penetrance

None

Publications

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 INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958

30 Apr 2019, Gel status: 4