ETV6, ETS variant transcription factor 6, 2120

N. diseases: 241; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype BEFREE Regardless of age of presentation and severity of symptoms related to thrombocytopenia and/or platelet dysfunction, a subset of patients with IT are at increased risk of developing myeloid neoplasms during their life time, particularly those with germline autosomal dominant mutations in RUNX1, ANKRD26, and ETV6. 31069978 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype BEFREE Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy. 31248877 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 Biomarker phenotype BEFREE The occurrence of grade 3-4 anemia and thrombocytopenia is higher in the TEL group (52.5% vs. 10.0% and 34.4% vs. 1.7% respectively). 29483583 2018
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype BEFREE Recently, autosomal dominant germline ETV6 mutations were discovered in families with inherited thrombocytopenia and a propensity to develop hematological malignancy, unequivocally demonstrating a role for ETV6 in leukemogenesis. 28637624 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype BEFREE We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in ETV6, of which five are novel. 27663637 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 Biomarker phenotype GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 Biomarker phenotype BEFREE The degree of thrombocytopenia and bleeding tendency of the patients with ETV6-related thrombocytopenia were mild, but four subjects developed B-cell acute lymphoblastic leukemia during childhood, resulting in a significantly higher incidence of this condition compared to that in the general population. 27365488 2016
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype BEFREE Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 Biomarker phenotype CTD_human Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype BEFREE A second ETV6 p. N385fs mutation was identified in an unrelated kindred characterized by thrombocytopenia, ALL and secondary myelodysplasia/acute myeloid leukemia. 26102509 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 GeneticVariation phenotype BEFREE Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. 25807284 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 Biomarker phenotype CTD_human Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. 25807284 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 CausalMutation phenotype CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.690 Biomarker phenotype HPO