1. Panels
  2. BRIDGE_SPEED_NEURO_20170705
  3. DDX3X
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BRIDGE_SPEED_NEURO_20170705

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

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: correction of MOI
Created: 25 Sep 2017, 9:49 a.m.
Created: 25 Sep 2017, 9:49 a.m.

Panel version: 0.192

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Created: 2 Aug 2017, 2:29 p.m.

Panel version: 0.191

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
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Intellectual diability
OMIM
300160
Clinvar variants
Variants in DDX3X
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Sep 2017, Gel status: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

DDX3X was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

DDX3X was created by LouiseD