ATXN7_CAG

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ATXN7_CAG STR in Ataxia and cerebellar anomalies - narrow panel Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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 Green Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
Green ATXN7_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 7, OMIM:164500 Tags STR
Green ATXN7_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 7, OMIM:164500 Tags STR
Amber ATXN7_CAG STR in Childhood onset hereditary spastic paraplegia Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
Green ATXN7_CAG STR in Adult onset hereditary spastic paraplegia Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
Amber ATXN7_CAG STR in Adult onset neurodegenerative disorder Version 5.1 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Yorkshire and North East GLH NHS GMS South West GLH London North GLH Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR watchlist
No list ATXN7_CAG STR in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR curated_removed
Amber ATXN7_CAG STR in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Expert Review Amber Phenotypes Spinocerebellar ataxia 7, OMIM:164500 Tags STR
No list ATXN7_CAG STR in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) 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 7, OMIM:164500 Tags STR curated_removed
Green ATXN7_CAG STR in Hereditary ataxia with onset in adulthood Version 5.3 Latest signed off version: v5.0 (1 May 2024)	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 7, OMIM:164500 Tags STR
No list ATXN7_CAG STR in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 5.4 Latest signed off version: v5.0 (1 May 2024)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Maculopaty Cone-Rod Dystrophy