Fetal anomalies
Gene: DDX11

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

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 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: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital heart defects reported.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for WARSAW BREAKAGE SYNDROME
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PAGE DD-Gene2Phenotype
Expert Review Green

Phenotypes

WARSAW BREAKAGE SYNDROME

OMIM

601150

Clinvar variants

Variants in DDX11

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DDX11 was added gene: DDX11 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX11 were set to WARSAW BREAKAGE SYNDROME

Fetal anomalies Gene: DDX11