Panel | Mode of inheritance | Details |
---|---|---|
3 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 Limb disordersComponent of the following Super Panels:
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738, radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758 |