Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes GRID2-related cerebellar ataxia, biallelic, GRID2-related cerebellar ataxia, monoallelic |
R-numbers: R54 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 |