ATXN1

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Red ATXN1 in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	Other	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red ATXN1 in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	Other	Sources Expert Review Red Eligibility statement prior genetic testing Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red ATXN1 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	Other	Sources Yorkshire and North East GLH NHS GMS South West GLH Expert Review Red Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red ATXN1 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Other	Sources Expert Review Red Literature Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red ATXN1 in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	Other	Sources NHS GMS Wessex and West Midlands GLH Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red ATXN1 in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	Other	Sources NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red ATXN1 in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Green ATXN1 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400
Green ATXN1_CAG STR in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.121	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green ATXN1_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease) Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Amber ATXN1_CAG STR in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR watchlist
Green ATXN1_CAG STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green ATXN1_CAG STR in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Amber ATXN1_CAG STR in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green ATXN1_CAG STR in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Amber ATXN1_CAG STR in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS South West GLH London North GLH Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR watchlist
Green ATXN1_CAG STR in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
No list ATXN1_CAG STR in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR curated_removed
Green ATXN1_CAG STR in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Wessex and West Midlands GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR
Green ATXN1_CAG STR in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 1, OMIM:164400 Tags STR

ATXN1

20 panels

Red ATXN1 in Ataxia and cerebellar anomalies - narrow panel

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Phenotypes

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Red ATXN1 in Hereditary ataxia

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Phenotypes

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Red ATXN1 in Adult onset neurodegenerative disorder

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Phenotypes

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Red ATXN1 in Intellectual disability - microarray and sequencing

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Phenotypes

Tags

Red ATXN1 in Hereditary ataxia with onset in adulthood

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Phenotypes

Tags

Red ATXN1 in Adult onset dystonia, chorea or related movement disorder

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Phenotypes

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Red ATXN1 in Childhood onset dystonia, chorea or related movement disorder

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Phenotypes

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Green ATXN1 in Severe Paediatric Disorders

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Phenotypes

Green ATXN1_CAG STR in Parkinson Disease and Complex Parkinsonism

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Phenotypes

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Green ATXN1_CAG STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

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Phenotypes

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Amber ATXN1_CAG STR in Ataxia and cerebellar anomalies - narrow panel

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Phenotypes

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Green ATXN1_CAG STR in Hereditary ataxia

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Phenotypes

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Green ATXN1_CAG STR in Hereditary spastic paraplegia

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Phenotypes

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Amber ATXN1_CAG STR in Childhood onset hereditary spastic paraplegia

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Phenotypes

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Green ATXN1_CAG STR in Adult onset hereditary spastic paraplegia

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Phenotypes

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Amber ATXN1_CAG STR in Adult onset neurodegenerative disorder

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Phenotypes

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Green ATXN1_CAG STR in Hereditary neuropathy

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No list ATXN1_CAG STR in Intellectual disability - microarray and sequencing

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Phenotypes

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Green ATXN1_CAG STR in Hereditary ataxia with onset in adulthood

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Phenotypes

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Green ATXN1_CAG STR in Adult onset dystonia, chorea or related movement disorder

Sources

Phenotypes