| Panel | Mode of inheritance | Details |
|---|---|---|
3 panels | ||
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Pancytopaenia, Bone Marrow Failure, 617052 Bone marrow failure syndrome 3, Bone marrow failure syndrome 3, 617052 |
Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bone marrow failure syndrome 3, OMIM:617052, Bone marrow failure syndrome 3, MONDO:0014887 |
R-numbers: R15 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Bone marrow failure syndrome 3, 617052, Shwachman-Diamond syndrome-like, Metaphyseal changes, short stature, developmental delay, pancreatic dysfunction, bone marrow failure, Congenital defects of phagocyte number or function |