Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R361 Signed-off version 2.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes |
Green in Hereditary ErythrocytosisR-numbers: R405 Signed-off version 2.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Erythrocytosis 6, OMIM:617980 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Delta-beta thalassemia, OMIM:141749, Heinz body anemia, OMIM:140700, Hereditary persistence of fetal hemoglobin, OMIM:141749, Methemoglobinemia, beta type, OMIM:617971, Thalassemia, beta, OMIM:613985, Thalassemia-beta, dominant inclusion-body, OMIM:603902, Sickle cell anemia, OMIM:603903 |
R-numbers: R93 Signed-off version 2.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes |