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Haematological malignancies cancer susceptibility

Gene: DHX34

Amber List (moderate evidence)
DHX34 (DExH-box helicase 34)
EnsemblGeneIds (GRCh38): ENSG00000134815
EnsemblGeneIds (GRCh37): ENSG00000134815
OMIM: 615475, Gene2Phenotype
DHX34 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

In a study of myelodysplastic syndrome (MDS) acute myeloid leukemia (AML) patients, Rio-Machin et al (PMID: 32098966) reported the association between helicase DHX34 variants and MDS and AML. The authors report four different DHX34 variants in four unrelated families. Functional studies of the four DHX34 variants revealed they compromised nonsense-mediated RNA decay activity, demonstrated by the failure to promote phosphorylation of UPF1 (PMID: 320989660).
Created: 7 May 2025, 3:38 p.m. | Last Modified: 7 May 2025, 3:38 p.m.
Panel Version: 4.12
Created: 7 May 2025, 3:38 p.m.
Last Modified: 7 May 2025, 3:38 p.m.
Panel version: 4.12

Lauma Freimane (Children's Clinical University Hospital)

Green List (high evidence)

PMID: 32098966 - "[..] functionally validated heterozygous variants in the RNA helicase DHX34, detected in four families, all of which impacted activity of the NMD (nonsense-mediated mRNA decay) pathway. [..]"
Sources: Literature
Created: 15 Jun 2023, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Thrombocytopenia; Neutropenia; Pancytopenia; AML

Publications

Created: 15 Jun 2023, 11:52 a.m.

Panel version: 4.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • myelodysplastic syndrome
  • acute myeloid leukemia
Tags
Q2_25_ promote_green
OMIM
615475
Clinvar variants
Variants in DHX34
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

7 May 2025, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: DHX34.

7 May 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dhx34 has been classified as Amber List (Moderate Evidence).

7 May 2025, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DHX34 were changed from Thrombocytopenia; Neutropenia; Pancytopenia; AML to myelodysplastic syndrome; acute myeloid leukemia

15 Jun 2023, Gel status: 0

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

Lauma Freimane (Children's Clinical University Hospital)

gene: DHX34 was added gene: DHX34 was added to Haematological malignancies cancer susceptibility. Sources: Literature Mode of inheritance for gene: DHX34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX34 were set to 32098966 Phenotypes for gene: DHX34 were set to Thrombocytopenia; Neutropenia; Pancytopenia; AML Penetrance for gene: DHX34 were set to Complete Review for gene: DHX34 was set to GREEN