Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Green in Cytopenia - NOT Fanconi anaemiaR-numbers: R91 Signed-off version 3.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Dyserythropoietic anemia, congenital, type IV, OMIM:613673 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV 613673 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Dyserythropoietic anemia, congenital, type IV, OMIM:613673, Hydrops Fetalis |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Dyserythropoietic anemia, congenital, type IV, OMIM:613673 |