Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Haematological malignancies cancer susceptibility v4.12 DHX34 Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: DHX34.
Haematological malignancies cancer susceptibility v4.12 DHX34 Sarah Leigh reviewed gene: DHX34: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Haematological malignancies cancer susceptibility v4.12 DHX34 Sarah Leigh Classified gene: DHX34 as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v4.12 DHX34 Sarah Leigh Gene: dhx34 has been classified as Amber List (Moderate Evidence).
Haematological malignancies cancer susceptibility v4.11 DHX34 Sarah Leigh Phenotypes for gene: DHX34 were changed from Thrombocytopenia; Neutropenia; Pancytopenia; AML to myelodysplastic syndrome; acute myeloid leukemia
Haematological malignancies cancer susceptibility v4.2 DHX34 Lauma Freimane 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
Added comment: 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