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 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 3.79 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 3.122 | 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 4.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 |