Genomics England

ATXN2_CAG

ataxin 2

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090, {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090, {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090, {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 6.6	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090, {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090, {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090, {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090