Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R56 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 |
R-numbers: R57 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280 |
Green in Hereditary ErythrocytosisR-numbers: R405 Signed-off version 2.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypermanganesemia with dystonia 1, OMIM:613280, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease |
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 Hypermanganesemia with dystonia 1, OMIM:613280 |