Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia 5, OMIM:600224, Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes SCA14, Infantile ataxia with oculomotor and pyramidal signs |
R-numbers: R54 Signed-off version 7.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia 5, OMIM:600224, Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 8.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 |