Genomics England
GMS Panels
Panels
Genes and Entities

ATXN2_CAG

ataxin 2
OMIM: 601517
PanelMode of inheritanceDetails
4 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 2, OMIM:183090
Green
in Childhood onset dystonia or chorea or related movement disorder
R-numbers: R57
Signed-off version 2.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 2, OMIM:183090, {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 2, OMIM:183090
Green
in Hereditary spastic paraplegia - adult onset
R-numbers: R60
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinocerebellar ataxia 2, OMIM:183090, {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090