Severe microcephaly

Gene: DDX11

Green List (high evidence)

DDX11 (DEAD/H-box helicase 11)
EnsemblGeneIds (GRCh38): ENSG00000013573
EnsemblGeneIds (GRCh37): ENSG00000013573
OMIM: 601150, Gene2Phenotype
DDX11 is in 4 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: 1 Amber rating, 3 unrelated cases (2010, 2013, 2015) in different populations plus functional studies plus confirmed DD-G2P gene for MIM:613398.
Created: 27 Feb 2017, 2:16 p.m.
PMID:25701697 (Bailet et al., 2015) report a 3rd case (British child) with Warsaw Breakage syndrome (WABS) with 2 confirmed mutations (c.638+1G>A and c.1888delC) in DDX11. The patient had (amongst other symptoms) pre- and postnatal growth retardation, severe microcephaly, intellectual disability and facial dysmorphism.
Created: 27 Feb 2017, 2:13 p.m.

Alice Gardham (Genomics England)

I don't know

Mutations only identified in two families. Recognised on G2P and offered on Bristol chromosome breakage panel
Created: 12 Jan 2017, 12:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warsaw breakage syndrome 613398

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Warsaw breakage syndrome 613398
OMIM
601150
Clinvar variants
Variants in DDX11
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

27 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

27 Feb 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DDX11 were set to 23033317; 20137776; 25701697

12 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

DDX11 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen,Literature

12 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

DDX11 was created by agardham