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Early-onset Parkinson disease

Gene: PPP2R2B

No list
PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta)
EnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

This is an STR disorder.
Created: 19 Jul 2022, 8:50 a.m. | Last Modified: 19 Jul 2022, 8:50 a.m.
Panel Version: 0.174
Created: 19 Jul 2022, 8:50 a.m.
Last Modified: 19 Jul 2022, 8:50 a.m.
Panel version: 0.174

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 2:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spinocerebellar ataxia 12; Parkinsonism; OMIM 604326

Publications

Created: 17 Jul 2022, 2:39 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • Spinocerebellar ataxia 12
  • Parkinsonism
  • OMIM 604326
Tags
STR
OMIM
604325
Clinvar variants
Variants in PPP2R2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ppp2r2b has been removed from the panel.

19 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag STR tag was added to gene: PPP2R2B.

17 Jul 2022, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: PPP2R2B was added gene: PPP2R2B was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: PPP2R2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP2R2B were set to PMID: 31286011 Phenotypes for gene: PPP2R2B were set to Spinocerebellar ataxia 12; Parkinsonism; OMIM 604326 Review for gene: PPP2R2B was set to GREEN