Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ATG7-related intellectual disability and ataxia, OMIM:619422, developmental delay, ataxia |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 |
Green in Optic neuropathyR-numbers: R41 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422 |