ETV6

PanelMode of inheritanceDetails
4 panels
R-numbers: R90
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
616216 Thrombocytopenia 5
R-numbers: R91
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
616216 Thrombocytopenia 5
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: familial predisp to leukaemia (typ AD), Thrombocytopenia 5, Quantitative and qualitative platelet disorders with propensity to myeloid malignancy, ALL, MDS, AML, CMML, Thrombocytopenia, No other known cancer risks
R-numbers: R347
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukemia, acute myeloid, somatic, OMIM:601626, Thrombocytopenia 5, OMIM:616216, Acute myeloid leukemia, MONDO:0018874