Genomics England
GMS Panels
Panels
Genes and Entities

NOP56_GGCCTG

NOP56 ribonucleoprotein
OMIM: 614154
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36, OMIM:614153
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36, OMIM:614153
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36, OMIM:614153