Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R57 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Dyskinesia, familial, with facial myokymia, 606703, dystonia, Familial dyskinesia, 606703 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes ADCY5-related developmental disorder (monoallelic) |
R-numbers: R54 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Familial dyskinesia 606703, Dyskinesia with facial myokymia |
R-numbers: R66 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703 |