Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
[Paper-level Aggregated] PMCID: PMC4845427
Evidence Type(s): Predisposing
Summary: Mutation: A to I | Summary: The RUNX1 alterations are germline, suggesting they confer inherited risk for disease in the identified pedigrees.
Gene→Variant (gene-first): RUNX1(861):A to I
Genes: RUNX1(861)
Variants: A to I
Platelet functional studies were carried out for 20 patients from eight unrelated pedigrees (A to I except B) and for patient J (Table 1). No such studies were performed for subjects belonging to pedigree B and for patie
[Paragraph-level] PMCID: PMC4845427 Section: RESULTS PassageIndex: 29
Evidence Type(s): None
Summary: Not enough information in this passage.
Gene→Variant (gene-first): 861:A to I
Genes: 861
Variants: A to I
The French FPD/AML cohort consists of nine pedigrees (A to I) and two syndromic patients (J and K) with germline RUNX1 alterations identified in eight hospitals (La Timone and Paoli-Calmettes in Marseille; Nancy; La Piti
[Paragraph-level] PMCID: PMC4845427 Section: RESULTS PassageIndex: 3
Evidence Type(s): Predisposing
Summary: Evidence Type: Predisposing | Mutation: A to I | Summary: The passage indicates that the RUNX1 alterations are germline, suggesting they confer inherited risk for disease in the identified pedigrees.
Gene→Variant (gene-first): 861:A to I
Genes: 861
Variants: A to I
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
[Paper-level Aggregated] PMCID: PMC4845427
Evidence Type(s): Predisposing, Oncogenic
Justification: Predisposing: The text mentions germline RUNX1 alterations in a cohort, indicating that these variants are associated with an increased risk of developing conditions such as familial platelet disorder and acute myeloid leukemia. Oncogenic: The presence of RUNX1 alterations in patients with acute myeloid leukemia suggests that these variants may contribute to the development of cancer.
Gene→Variant (gene-first): RUNX1(861):A to I
Genes: RUNX1(861)
Variants: A to I
Platelet functional studies were carried out for 20 patients from eight unrelated pedigrees (A to I except B) and for patient J (Table 1). No such studies were performed for subjects belonging to pedigree B and for patie
[Paragraph-level] PMCID: PMC4845427 Section: RESULTS PassageIndex: 29
Evidence Type(s): None
Justification: Not enough information in this passage.
Gene→Variant (gene-first): 861:A to I
Genes: 861
Variants: A to I
The French FPD/AML cohort consists of nine pedigrees (A to I) and two syndromic patients (J and K) with germline RUNX1 alterations identified in eight hospitals (La Timone and Paoli-Calmettes in Marseille; Nancy; La Piti
[Paragraph-level] PMCID: PMC4845427 Section: RESULTS PassageIndex: 3
Evidence Type(s): Predisposing
Justification: Predisposing: The passage discusses germline RUNX1 alterations identified in pedigrees, indicating inherited risk for developing disease.
Gene→Variant (gene-first): 861:A to I
Genes: 861
Variants: A to I