DDX41

DEAD-box helicase 41
OMIM: 608170, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green DDX41 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.17

review 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
Green DDX41 in Inherited predisposition to acute myeloid leukaemia (AML)


Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to}, OMIM:616871
  • DDX41-related hematologic malignancy predisposition syndrome, MONDO:0014809
Green DDX41 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review 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
Green DDX41 in Cytopenia - NOT Fanconi anaemia


Version 3.33
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to, 616871