PPP2R2B_CAG

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green PPP2R2B_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 12, OMIM:604326 Tags STR
Amber PPP2R2B_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 Amber Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR watchlist
Green PPP2R2B_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 12, OMIM:604326 Tags STR
Green PPP2R2B_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 12, OMIM:604326 Tags STR
Amber PPP2R2B_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 12, OMIM:604326 Tags STR
Green PPP2R2B_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 12, OMIM:604326 Tags STR
Amber PPP2R2B_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 London North GLH Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR watchlist
Amber PPP2R2B_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 12, OMIM:604326 Tags STR
No list PPP2R2B_CAG STR in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.9 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 12, OMIM:604326 Tags STR curated_removed
Green PPP2R2B_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 Wessex and West Midlands GLH NHS GMS Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags STR
Green PPP2R2B_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 12, OMIM:604326 Tags STR