Genomics England

SETX

senataxin

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Albinism or congenital nystagmus R-numbers: R39 Signed-off version 4.12	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002, Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Green in Neurodegenerative disorders, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433