Haematological malignancies for rare disease

Gene: DDX41

Green List (high evidence)

DDX41 (DEAD-box helicase 41)
EnsemblGeneIds (GRCh38): ENSG00000183258
EnsemblGeneIds (GRCh37): ENSG00000183258
OMIM: 608170, Gene2Phenotype
DDX41 is in 4 panels

1 review

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • DDX41-related AML
  • SCN3
  • AML, MDS (late onset), possibly others
  • CML
  • No other known cancer risks
OMIM
608170
Clinvar variants
Variants in DDX41
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DDX41 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green

10 Apr 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

DDX41 was created by Ellen McDonagh