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 - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) 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 1.344	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 Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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
Amber PPP2R2B in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) 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 Amber Literature Phenotypes neurodevelopmental syndrome Tags Q1_25_ promote_green
Amber PPP2R2B in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	Other	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes neurodevelopmental syndrome Tags Q1_25_ promote_green
Red PPP2R2B in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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 Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	Other	Sources NHS GMS London North GLH Phenotypes Spinocerebellar ataxia 12, OMIM:604326 Tags nucleotide-repeat-expansion currently-ngs-unreportable
Red PPP2R2B in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	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 - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) 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 1.344	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 Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	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 Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	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 1.506	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 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	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 - narrow panel

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Phenotypes

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Red PPP2R2B in Hereditary ataxia

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Red PPP2R2B in Adult onset neurodegenerative disorder

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Red PPP2R2B in DDG2P

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Amber PPP2R2B in Early onset or syndromic epilepsy

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Amber PPP2R2B in Intellectual disability

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Red PPP2R2B in Hereditary ataxia with onset in adulthood

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Phenotypes

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Red PPP2R2B in Adult onset dystonia, chorea or related movement disorder

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Phenotypes

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Red PPP2R2B in Childhood onset dystonia, chorea or related movement disorder

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Phenotypes

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Green PPP2R2B_CAG STR in Parkinson Disease and Complex Parkinsonism

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Phenotypes

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Amber PPP2R2B_CAG STR in Ataxia and cerebellar anomalies - narrow panel

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Phenotypes

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Green PPP2R2B_CAG STR in Hereditary ataxia

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Phenotypes

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Green PPP2R2B_CAG STR in Hereditary spastic paraplegia

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Phenotypes

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Amber PPP2R2B_CAG STR in Childhood onset hereditary spastic paraplegia

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Green PPP2R2B_CAG STR in Adult onset hereditary spastic paraplegia

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Phenotypes

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Amber PPP2R2B_CAG STR in Adult onset neurodegenerative disorder

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Phenotypes

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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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Phenotypes

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Green PPP2R2B_CAG STR in Hereditary ataxia with onset in adulthood

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Phenotypes

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Green PPP2R2B_CAG STR in Adult onset dystonia, chorea or related movement disorder

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Phenotypes