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germline p/lp variants in the ddx41 gene  (CytoMol Inc)

 
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    CytoMol Inc germline p/lp variants in the ddx41 gene
    Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in <t>DDX41</t> genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.
    Germline P/Lp Variants In The Ddx41 Gene, supplied by CytoMol Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/ddx41+gene/germline+p+lp+variants+in+the+ddx41+gene/pmc12260513-151-6-17
    Average 90 stars, based on 1 article reviews
    germline p/lp variants in the ddx41 gene - by Bioz Stars, 2026-09
    90/100 stars

    Images

    1) Product Images from "Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study"

    Article Title: Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

    Journal: Clinical Cancer Research

    doi: 10.1158/1078-0432.CCR-24-4251

    Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in DDX41 genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.
    Figure Legend Snippet: Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in DDX41 genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.

    Techniques Used: Diagnostic Assay, Comparison

    Related Articles

    Diagnostic Assay:

    Article Title: Validation of guidelines for genetic investigation of myeloid neoplasms with germline predisposition: results from a prospective cohort study
    Article Snippet: The most frequently mutated gene was DDX41, which accounted for 43% (13/30) of P/LP findings across all criteria and for 70% (12/17) of findings in the CytoMol group (Figure 3D).

    Article Title: Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
    Article Snippet: The most frequently mutated gene was DDX41 , which accounted for 43% (13/30) of P/LP findings across all criteria and for 70% (12/17) of findings in the CytoMol group ( ).

    Comparison:

    Article Title: Validation of guidelines for genetic investigation of myeloid neoplasms with germline predisposition: results from a prospective cohort study
    Article Snippet: The most frequently mutated gene was DDX41, which accounted for 43% (13/30) of P/LP findings across all criteria and for 70% (12/17) of findings in the CytoMol group (Figure 3D).

    Article Title: Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
    Article Snippet: The most frequently mutated gene was DDX41 , which accounted for 43% (13/30) of P/LP findings across all criteria and for 70% (12/17) of findings in the CytoMol group ( ).

    Variant Assay:

    Article Title: Validation of guidelines for genetic investigation of myeloid neoplasms with germline predisposition: results from a prospective cohort study
    Article Snippet: The most frequently mutated gene was DDX41, which accounted for 43% (13/30) of P/LP findings across all criteria and for 70% (12/17) of findings in the CytoMol group (Figure 3D).

    Article Title: Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study
    Article Snippet: The most frequently mutated gene was DDX41 , which accounted for 43% (13/30) of P/LP findings across all criteria and for 70% (12/17) of findings in the CytoMol group ( ).



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    germline p/lp variants in the ddx41 gene  (CytoMol Inc)
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    CytoMol Inc germline p/lp variants in the ddx41 gene
    Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in <t>DDX41</t> genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.
    Germline P/Lp Variants In The Ddx41 Gene, supplied by CytoMol Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
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    Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in <t>DDX41</t> genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.
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    open reading frame of the ddx41 gene  (Thermo Fisher)
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    Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in <t>DDX41</t> genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.
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    Image Search Results


    Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in DDX41 genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.

    Journal: Clinical Cancer Research

    Article Title: Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

    doi: 10.1158/1078-0432.CCR-24-4251

    Figure Lengend Snippet: Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in DDX41 genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.

    Article Snippet: Overall, germline P/LP variants in the DDX41 gene were the most common finding, although predominantly in the CytoMol group, in line with previous studies ( , ).

    Techniques: Diagnostic Assay, Comparison

    Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in DDX41 genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.

    Journal: Clinical Cancer Research

    Article Title: Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study

    doi: 10.1158/1078-0432.CCR-24-4251

    Figure Lengend Snippet: Clinical characteristics and selected pedigrees. A, Boxplot of age at inclusion for the three diagnostic outcomes with regard to findings in established genes for hereditary blood disorders. “None” refers to patients without any findings. Actual data points are overlaid, their shape illustrating the hematologic phenotype at inclusion. Patients with germline findings in DDX41 genes are presented in red. A Wilcoxon rank-sum test was performed for pairwise comparison of age at inclusion. Adjusted P values are indicated above the boxplot. Ns, not significant. B, Pedigree of three patients belonging to families with inherited thrombocytopenia without hematologic malignancies harboring germline pathogenic variants in ANKRD26 ( NM_014915.2 ). Affected individuals are represented by filled squares (males) and circles (females). The index case is denoted by an arrow. Number or “n” within the symbols represents the known or unknown number of relatives, respectively. P, Pathogenic; TP, thrombocytopenia.

    Article Snippet: The most frequently mutated gene was DDX41 , which accounted for 43% (13/30) of P/LP findings across all criteria and for 70% (12/17) of findings in the CytoMol group ( ).

    Techniques: Diagnostic Assay, Comparison