Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
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 N/A ? Diamond-Blackfan Anaemia |