Genomics England
GMS Panels
Panels
Genes and Entities

ATXN7_CAG

ataxin 7
OMIM: 607640
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500, autosomal dominant cerebellar ataxia type II, MONDO:0016163
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500, autosomal dominant cerebellar ataxia type II, MONDO:0016163