Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
R-numbers: R58 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 21, OMIM:607454 |
Component of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 21, 607454 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes TMEM240-associated spinocerebellar ataxia and intellectual disability, OMIM:607454 |
R-numbers: R54 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 21, 607454 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 21, 607454 |