Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Diamond-Blackfan anemia 4, 612527 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Diamond-Blackfan anemia 4 612527 |
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Class: BM failure syndrome (typ AR), Diamond Blackfan Anemia, MDS, AML, Osteosarcoma, soft tissue sarcomas |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Diamond-Blackfan anemia 4, 612527, Radial Ray abnormality |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Diamond-Blackfan anemia 4, 612527, 612527 Diamond-Blackfan anemia 4 |