Genomics England
GMS Panels
Panels
Genes and Entities

STUB1

STIP1 homology and U-box containing protein 1
OMIM: 607207
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768, autosomal recessive spinocerebellar ataxia 16, MONDO:0014339, Spinocerebellar ataxia 48, OMIM:618093, spinocerebellar ataxia 48, MONDO:0032526
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768, autosomal recessive spinocerebellar ataxia 16, MONDO:0014339, Spinocerebellar ataxia 48, OMIM:618093, spinocerebellar ataxia 48, MONDO:0032526
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768, autosomal recessive spinocerebellar ataxia 16, MONDO:0014339, Spinocerebellar ataxia 48, OMIM:618093, spinocerebellar ataxia 48, MONDO:0032526