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  3. DDX41
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Bone Marrow Failure

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

2 reviews

Santosh Varughese (University of Melbourne)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

Created: 22 May 2024, 8:31 a.m.
Last Modified: 22 May 2024, 8:31 a.m.
Panel version: 1.91

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Approximately half of individuals reported in this cohort experienced cytopaenia in the years preceding the diagnosis of a malignancy.
Created: 13 Sep 2020, 11:15 p.m. | Last Modified: 13 Sep 2020, 11:15 p.m.
Panel Version: 0.88
Adult-onset disorder, often initially presents with myelodysplasia +/- a range of haematological malignancies. Reduced penetrance.
Sources: Expert list
Created: 17 Feb 2020, 12:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
{Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871

Publications

Created: 17 Feb 2020, 12:33 a.m.

Panel version: 0.88

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871
OMIM
608170
Clinvar variants
Variants in DDX41
Penetrance
None
Panels with this gene

History Filter Activity

17 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddx41 has been classified as Green List (High Evidence).

17 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ddx41 has been classified as Green List (High Evidence).

17 Feb 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DDX41 was added gene: DDX41 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: DDX41 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871 Review for gene: DDX41 was set to GREEN