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Adult onset neurodegenerative disorder

STR: PPP2R2B_CAG

Amber List (moderate evidence)
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: 2.267
Comment on list classification: Downgraded from Green to Amber as this STR was not listed on the recent GMS STRs document supplied by Jane Deller (NHS England) on behalf of GLHs for the GMS Neurology Test Group
Created: 8 Oct 2020, 9:29 a.m. | Last Modified: 8 Oct 2020, 9:29 a.m.
Panel Version: 2.30
Created: 8 Oct 2020, 9:29 a.m.
Last Modified: 8 Oct 2020, 9:29 a.m.
Panel version: 2.267

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age at onset 8 to 55 years (mean 40 years)
Created: 23 Jul 2019, 5:03 p.m. | Last Modified: 23 Jul 2019, 5:03 p.m.
Panel Version: 1.75
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 24 Apr 2019, 2:37 p.m.
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148
Sources: Expert list
Created: 20 Dec 2018, 2:22 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

Created: 20 Dec 2018, 2:22 p.m.

Panel version: 1.75

Details

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

History Filter Activity

13 Jul 2023, Gel status: 2

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green was removed from STR: PPP2R2B_CAG.

29 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to STR: PPP2R2B_CAG.

8 Jun 2022, Gel status: 2

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag for-review was removed from STR: PPP2R2B_CAG.

10 Mar 2022, Gel status: 2

Changed Normal Number of Repeats, Changed Pathogenic Number of Repeats

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.

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 to Spinocerebellar ataxia 12, OMIM:604326

10 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag watchlist tag was added to STR: PPP2R2B_CAG.

8 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Str: ppp2r2b_cag has been classified as Amber List (Moderate Evidence).

8 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to STR: PPP2R2B_CAG.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to STR: PPP2R2B_CAG.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: PPP2R2B_CAG.

9 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: PPP2R2B_CAG.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Parki

20 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

20 Dec 2018, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list STR tags were added to STR: PPP2R2B_CAG. Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: PPP2R2B_CAG were set to 20301381 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN