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Gene: DDX11

Green List (high evidence)

DDX11 (DEAD/H-box helicase 11)
EnsemblGeneIds (GRCh38): ENSG00000013573
EnsemblGeneIds (GRCh37): ENSG00000013573
OMIM: 601150, Gene2Phenotype
DDX11 is in 9 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Warsaw breakage syndrome (WBS) is a rare cohesinopathy, characterised by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies, and sensorineural hearing loss (PMID: 30216658).
Created: 8 Jan 2025, 5:06 a.m. | Last Modified: 8 Jan 2025, 5:06 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Warsaw breakage syndrome MIM#613398

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Warsaw breakage syndrome, MIM#613398
OMIM
601150
Clinvar variants
Variants in DDX11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddx11 has been classified as Green List (High Evidence).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, 613398 (3) to Warsaw breakage syndrome, MIM#613398

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DDX11 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Warsaw breakage syndrome, 613398 (3) for gene: DDX11

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDX11 was added gene: DDX11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)