Hereditary ataxia with onset in adulthood
Gene: PPP2R2BEnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 14 panels
2 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: 2.123
Louise Daugherty (Genomics England Curator)
There are no SNVs for this gene being associated to the disorder, this gene is rated RED. However, there is a pertinent STR PPP2R2B_CAG, which is GREEN on this panelCreated: 19 Jun 2019, 12:42 p.m.
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Hereditary ataxia v1.148
- Phenotypes
-
- Spinocerebellar ataxia 12, OMIM:604326
- Tags
- OMIM
- 604325
- Clinvar variants
- Variants in PPP2R2B
- Penetrance
- None
- 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 Unknown 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.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Louise Daugherty: Comment on phenotypes: Implica
Added Tag, Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag watchlist tag was added to gene: PPP2R2B. Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B. Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Eleanor Williams (Genomics England Curator)gene: PPP2R2B was added gene: PPP2R2B was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: PPP2R2B was set to Unknown Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326 Mode of pathogenicity for gene: PPP2R2B was set to Other - please provide details in the comments