Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 188000 Thrombocytopenia 2 |
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Thrombocytopenia 2, 188000 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes THROMBOCYTOPENIA 2 188000 |
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Class: familial predisp to leukaemia (typ AD), Thrombocytopenia 2, Quantitative and qualitative platelet disorders with propensity to myeloid malignancy, MDS, AML, CMML |
R-numbers: R347 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Thrombocytopenia 2, OMIM:188000, Acute myeloid leukemia, MONDO:0018874 |