Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R58 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Spinocerebellarataxia19, OMIM:607346 |
Component of the following Super Panels:
Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Spinocerebellarataxia19,607346 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes KCND3-related developmental disorder (monoallelic) |
R-numbers: R54 Signed-off version 5.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Spinocerebellar ataxia 19, 607346, Spinocerebellarataxia19, 607346 |