Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in Bleeding and platelet disordersR-numbers: R90 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738, 616738 Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 |
R-numbers: R15 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738, Hypocellular bone marrow, congenital thrombocytopenia, B-cell lymphopenia, hypogammaglobulinemia, radioulnar synostosis, digit abnormalities, clubfoot, cardiac defects, facial dysmorphism |