PPP2R2B

protein phosphatase 2 regulatory subunit Bbeta
OMIM: 604325, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
No list PPP2R2B in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.35 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Literature Phenotypes Spinocerebellar ataxia 12 Parkinsonism OMIM 604326 Tags STR
Amber PPP2R2B in Mendeliome Version 1.2511	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related Tags STR
Amber PPP2R2B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.145 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related
Amber PPP2R2B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.117	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related
No list PPP2R2B in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.46 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags STR
Green PPP2R2B_SCA12_CAG STR in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.35 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 12 MIM#604326
Green PPP2R2B_SCA12_CAG STR in Mendeliome Version 1.2511	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326
Green PPP2R2B_SCA12_CAG STR in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.46 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326
Green PPP2R2B_SCA12_CAG STR in Repeat Disorders Version 0.256	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags adult-onset paediatric-onset