PPP2R2B

protein phosphatase 2 regulatory subunit Bbeta
OMIM: 604325, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
No list PPP2R2B in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	2 reviews	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 2.0	1 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 2.0	1 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 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Neurodevelopmental disorder MONDO:0700092, PPP2R2B-related
Green PPP2R2B_SCA12_CAG STR in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 3.0	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 2.0	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 Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326
Green PPP2R2B_SCA12_CAG STR in Repeat Disorders Version 1.0	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags adult-onset paediatric-onset