Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 2.23 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia 5 (AD), Spinocerebellar ataxia, autosomal recessive 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, Spinocerebellar Ataxia, Dominant, Spinocerebellar ataxia, autosomal recessive 14 (AR), Spinocerebellar ataxia 5, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant) |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 2.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SCA14, Infantile ataxia with oculomotor and pyramidal signs |
Green in Hereditary ataxia - adult onsetR-numbers: R54 Signed-off version 2.13 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Spinocerebellar Ataxia, Dominant, Autosomal recessive spinocerebellar ataxia 14, 615386, Spinocerebellar ataxia, autosomal recessive 14, Spinocerebellar ataxia 5, Spinocerebellar ataxia 5, 600224, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 3.2 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM:615386, Developmental delay |