Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neutropenia, severe congenital 1, autosomal dominant, 202700, Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant 202700, 202700 Neutropenia, severe congenital 1, 202700 Neutropenia, severe congenital 1, autosomal dominant, Neutropenia, cyclic 162800, 162800 Cyclic neutropenia, 162800 Neutropenia, cyclic |
Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Class: miscellaneous, Severe congenital neutropenia, MDS, AML |
R-numbers: R313 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes |
R-numbers: R15 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Neutropenia, cyclic, 162800, Neutropenia, severe congenital 1, autosomal dominant, 202700, Neutropenia, severe congenital 1, Congenital neutropenia, Cyclic neutropenia, Susceptibility to MDS/leukemia, Severe congenital neutropenia or cyclic neutropenia, Congenital defects of phagocyte number or function |