Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
R-numbers: R60 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 |
Green in Albinism or congenital nystagmusR-numbers: R39 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia, Charlevoix-Saguenay type 270550 AR |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia, Charlevoix-Saguenay type |
R-numbers: R61 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 270550 |
R-numbers: R54 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Charlevoix-Saguenay spastic ataxia, 270550, Spastic ataxia, Charlevoix-Saguenay type |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia, Charlevoix-Saguenay type, Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 7.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), Spastic ataxia, Charlevoix-Saguenay type |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 |