Hereditary ataxia
Gene: PPP2R2BEnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 14 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 10 Nov 2021, 5:51 p.m. | Last Modified: 10 Nov 2021, 5:51 p.m.
Panel Version: 1.277
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: Repeat expansionCreated: 21 Jul 2016, 7:46 a.m.
emma baple (Genomics England Curator)
Comment when marking as ready: Repeat expansion so excludedCreated: 3 Jun 2016, 12:05 p.m.
Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)
Repeat expansion. NOT APPROPRIATECreated: 24 Nov 2015, 4:57 p.m.
Phenotypes
Spinocerebellarataxia12,604326
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Spinocerebellar ataxia 12, OMIM:604326
- Tags
- OMIM
- 604325
- Clinvar variants
- Variants in PPP2R2B
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- DDG2P
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Early onset or syndromic epilepsy
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: PPP2R2B was changed from to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PPP2R2B were changed from Spinocerebellarataxia12,604326 to Spinocerebellar ataxia 12, OMIM:604326
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist was removed from gene: PPP2R2B.
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for PPP2R2B was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
emma baple (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PPP2R2B was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PPP2R2B was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen