Genomics England
GMS Panels
Panels
Genes and Entities

ATXN7_CAG

ataxin 7
OMIM: 607640
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset hereditary spastic paraplegia
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.10
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500
Green
in Adult onset neurodegenerative disorder
Component of the following Super Panels:
  • - Adult-onset neurological disorders
R-numbers: R58
Signed-off version 9.0
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 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500
Green
in Hereditary ataxia with onset in adulthood
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 7, OMIM:164500, autosomal dominant cerebellar ataxia type II, MONDO:0016163