Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Anemia, sideroblastic, 4, OMIM:182170, Even-plus syndrome, OMIM:616854 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Even-plus syndrome, OMIM:616854 |
Green in Rare anaemiaR-numbers: R92 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes sideroblastic anaemia, 182170 Sideroblastic anaemia 4, 182170 sideroblastic anaemia type 4, Sideroblastic anaemia type 4, 182170 |