Hereditary ataxia

STR: PPP2R2B_CAG

Green List (high evidence)

Chromosome: 5
GRCh37 Position: 146258292-146258321
GRCh38 Position: 146878729-146878758
Repeated Sequence: CAG
Normal Number of Repeats: < or = 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 13 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

STR repeat lengths have been reviewed and confirmed by the NHS Genomic Medicine Service.
Created: 15 Mar 2022, 3:39 p.m. | Last Modified: 15 Mar 2022, 3:39 p.m.
Panel Version: 1.298

Arianna Tucci (Genomics England Curator)

Comment on list classification: changed to green as diagnostic for ataxia
Created: 5 Jun 2018, 11 a.m.

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Genomic coordinates have been changed to that for the STR in the reference genome.
Created: 6 Jun 2018, 11:57 a.m.
Please note: The current genomic coordinates provided are for the X gene and not for the STR region. These will be replaced once the location is confimed.
Created: 31 May 2018, 2:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 12 604326

Publications

Variants in this STR are reported as part of current diagnostic practice

Details

Name
PPP2R2B_CAG
Chromosome
5
GRCh37 Coordinates
146258292-146258321
GRCh38 Coordinates
146878729-146878758
Repeated Sequence
CAG
Normal Number of Repeats: < or =
33
Pathogenic Number of Repeats: = or >
43
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12, OMIM:604326
Tags
STR
OMIM
604325
Clinvar variants
Variants in PPP2R2B
Penetrance
None
Publications

History Filter Activity

10 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: ppp2r2b_cag has been classified as Green List (High Evidence).

10 Mar 2022, Gel status: 1

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

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. Rating Changed from Green List (high evidence) to Red List (low evidence)

10 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for STR: PPP2R2B_CAG were changed from Spinocerebellar ataxia 12 604326 to Spinocerebellar ataxia 12, OMIM:604326

6 Jun 2018, Gel status: 4

Changed GRCh37, Changed GRCh38

Ellen McDonagh (Genomics England Curator)

GRCh37 position for PPP2R2B_CAG was changed from 145960709-146464347 to 146258292-146258321. Panel: Hereditary ataxia GRCh38 position for PPP2R2B_CAG was changed from 146581146-147084784 to 146878729-146878758. Panel: Hereditary ataxia

5 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

Str: ppp2r2b_cag has been classified as Green List (High Evidence).

31 May 2018, Gel status: 1

Added Tag

Ellen McDonagh (Genomics England Curator)

STR was added to STR: PPP2R2B_CAG. Panel: Hereditary ataxia

31 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STR: PPP2R2B_CAG was added to Hereditary ataxia panel. Sources: Expert list

31 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

STR: PPP2R2B_CAG was created by Ellen McDonagh