Panel | Mode of inheritance | Details |
---|---|---|
3 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 12, 615550 |
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 Rare anaemiaR-numbers: R92 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ?Diamond-Blackfan anemia 12, 615550, 615550 ?Diamond-Blackfan anemia 1, 615550 ?Diamond-Blackfan anaemia 12 |