Genomics England
GMS Panels
Panels
Genes and Entities
NOP56_GGCCTG
NOP56 ribonucleoprotein
OMIM:
614154
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Panel
Mode of inheritance
Details
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Hereditary ataxia with onset in adulthood
R-numbers:
R54
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 36, OMIM:614153