Genomics England

ATXN2_CAG

ataxin 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 4.5	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 5.5	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 7.10	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 7.19	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 6.5	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 7.11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinocerebellar ataxia 2, OMIM:183090