PPP2R2B

protein phosphatase 2 regulatory subunit Bbeta
OMIM: 604325, Gene2Phenotype

20 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 20 panels
Red PPP2R2B 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	Other	Sources Expert Review Red Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red PPP2R2B in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.345	review	Other	Sources Expert Review Red Radboud University Medical Center, Nijmegen UKGTN Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red PPP2R2B 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	Other	Sources NHS GMS Yorkshire and North East GLH Expert Review Red Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red PPP2R2B in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Red Phenotypes PPP2R2B-related neurodevelopmental disorder
Green PPP2R2B in Early onset or syndromic epilepsy Level 2: Neurology Version 9.73 Latest signed off version: v9.56 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes neurodevelopmental syndrome
Green PPP2R2B in Intellectual disability Level 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS BRIDGE study SPEED NEURO Tier1 Gene Phenotypes neurodevelopmental syndrome
Red PPP2R2B in Hereditary ataxia, 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	Other	Sources Expert Review Red Hereditary ataxia v1.148 Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red PPP2R2B in Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.9 Latest signed off version: v6.7 (12 Aug 2026) Component of the following Super Panels: Adult-onset neurological disorders	review	Other	Sources NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red PPP2R2B in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Other	Sources Expert Review Red London North GLH Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Green PPP2R2B_CAG STR in Parkinson Disease and Complex Parkinsonism Level 3: Neurodegenerative disorders Level 2: Neurology and neurodevelopmental disorders Version 1.128	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 - 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 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 1.345	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 1.316	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 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 12, OMIM:604326 Tags STR
Green PPP2R2B_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 12, OMIM:604326 Tags STR
Amber PPP2R2B_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 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 1.513	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 2: Developmental disorders Version 11.26 Latest signed off version: v11.0 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset 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, 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 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 Dystonia, chorea or related movement disorder, adult onset Level 2: Neurology Version 6.9 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 12, OMIM:604326 Tags STR

PPP2R2B

20 panels

Red PPP2R2B in Ataxia and cerebellar anomalies - childhood onset

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Phenotypes

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Red PPP2R2B in Hereditary ataxia

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Red PPP2R2B in Neurodegenerative disorders, adult onset

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Red PPP2R2B in DDG2P

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Green PPP2R2B in Early onset or syndromic epilepsy

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Green PPP2R2B in Intellectual disability

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Phenotypes

Red PPP2R2B in Hereditary ataxia, adult onset

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Phenotypes

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Red PPP2R2B in Dystonia, chorea or related movement disorder, adult onset

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Red PPP2R2B in Dystonia, chorea or related movement disorder, childhood onset

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Green PPP2R2B_CAG STR in Parkinson Disease and Complex Parkinsonism

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Amber PPP2R2B_CAG STR in Ataxia and cerebellar anomalies - childhood onset

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Green PPP2R2B_CAG STR in Hereditary ataxia

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Green PPP2R2B_CAG STR in Hereditary spastic paraplegia

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Amber PPP2R2B_CAG STR in Hereditary spastic paraplegia, childhood onset

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Green PPP2R2B_CAG STR in Hereditary spastic paraplegia, adult onset

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Amber PPP2R2B_CAG STR in Neurodegenerative disorders, adult onset

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Amber PPP2R2B_CAG STR in Hereditary neuropathy

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No list PPP2R2B_CAG STR in Intellectual disability

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Green PPP2R2B_CAG STR in Hereditary ataxia, adult onset

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Green PPP2R2B_CAG STR in Dystonia, chorea or related movement disorder, adult onset

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Phenotypes

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