Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 4.0 | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | Phenotypes Spinocerebellar ataxia 29, Gillespie syndrome 206700, Spinocerebellar ataxia 15, Spinocerebellar ataxia 29, congenital nonprogressive |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes SPINOCEREBELLAR ATAXIA TYPE15 606658, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE 117360, Gillespie Syndrome 206700 |
R-numbers: R54 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Spinocerebellar ataxia 15, 606658, Gillespie syndrome, 206700, Spinocerebellar ataxia 15, Spinocerebellar ataxia 29, Spinocerebellar ataxia 29, 117360 |
Component of the following Super Panels:
R-numbers: R29 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Gillespie syndrome 206700 |
Green in Sporadic aniridiaR-numbers: R38 Signed-off version 3.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Gillespie syndrome, OMIM:206700 |