CACNA1A_CAG

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green CACNA1A_CAG STR in Brain channelopathy Level 3: Channelopathies 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 6, OMIM:183086 Tags STR
Amber CACNA1A_CAG STR in Ataxia and cerebellar anomalies - childhood onset Level 2: Neurology Version 9.32 Latest signed off version: v9.22 (12 Aug 2026) 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 6, OMIM:183086 spinocerebellar ataxia type 6, MONDO:0008457 Tags STR
Green CACNA1A_CAG STR in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Red CACNA1A_CAG STR in Paroxysmal central nervous system disorders Level 2: Neurology Version 4.7 Latest signed off version: v4.6 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Red Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green CACNA1A_CAG STR in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert Review Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Amber CACNA1A_CAG STR in Hereditary spastic paraplegia, childhood onset Level 2: Neurology Version 9.11 Latest signed off version: v9.7 (12 Aug 2026)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green CACNA1A_CAG STR in Hereditary spastic paraplegia, adult onset Level 2: Neurology Version 6.14 Latest signed off version: v6.13 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS South West GLH London North GLH Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR
Green CACNA1A_CAG STR in Neurodegenerative disorders, adult onset Level 2: Neurology Version 9.11 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 spinocerebellar ataxia type 6, MONDO:0008457 Tags STR
Green CACNA1A_CAG STR in Hereditary ataxia, adult onset Level 2: Neurology Version 9.10 Latest signed off version: v9.4 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	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 6, OMIM:183086 Tags STR
Green CACNA1A_CAG STR in Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.8 Latest signed off version: v6.7 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Expert list Phenotypes Spinocerebellar ataxia 6, OMIM:183086 Tags STR