Hereditary neuropathy
STR: PPP2R2B_CAG

Chromosome: 5
GRCh37 Position: 146258292-146258321
GRCh38 Position: 146878729-146878758
Repeated Sequence: CAG
Normal Number of Repeats: < 33
Pathogenic Number of Repeats: = or > 43

PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta)
EnsemblGeneIds (GRCh38): ENSG00000156475
EnsemblGeneIds (GRCh37): ENSG00000156475
OMIM: 604325, Gene2Phenotype
PPP2R2B is in 0 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 3:42 p.m. | Last Modified: 15 Mar 2022, 3:42 p.m.

Panel Version: 1.441

Created: 15 Mar 2022, 3:42 p.m.
Last Modified: 15 Mar 2022, 3:42 p.m.
Panel version: 1.441

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New Green STR submitted by Alex Rossor (UCL Institute of Neurology) on behalf of London North GLH for GMS Neurology specialist test group. This STR has been rated Amber until further discussion with the Neurology Test Group on 21st June 2019- although appropriate to have on this panel, they can be more late-onset, this panel is used for children so needs further discussion with the GLHs and Genomics England Clinical team before upgrading to Green
Created: 11 Jun 2019, 5:13 p.m.

Sources: Expert list
Created: 11 Jun 2019, 5:11 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 12 604326; Adult onset cerebellar ataxia, tremor of head and arms, subclinical sensory-motor axonal neuropathy; neuropathy minor feature

Publications

16138911

Created: 11 Jun 2019, 5:11 p.m.

Panel version: 1.305

Details

Name

PPP2R2B_CAG

Chromosome

GRCh37 Coordinates

146258292-146258321

GRCh38 Coordinates

146878729-146878758

Repeated Sequence

CAG

Normal Number of Repeats: <

Pathogenic Number of Repeats: = or >

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review
Expert Review Amber

Phenotypes

Spinocerebellar ataxia 12, OMIM:604326

Tags

STR

OMIM

604325

Clinvar variants

Variants in PPP2R2B

Penetrance

None

Publications

16138911

History Filter Activity

10 Mar 2022, Gel status: 2

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats, Added New Source

Arina Puzriakova (Genomics England Curator)

Normal Number of Repeats for PPP2R2B_CAG was changed from 32 to 33. Pathogenic Number of Repeats for PPP2R2B_CAG was changed from 51 to 43. Source NHS GMS was added to STR: PPP2R2B_CAG.

10 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326; Adult onset cerebellar ataxia, tremor of head and arms, subclinical sensory-motor axonal neuropathy; neuropathy minor feature to Spinocerebellar ataxia 12, OMIM:604326

12 Jun 2019, Gel status: 2