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Hereditary ataxia - adult onset

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

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: 2.147

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Created: 5 Aug 2019, 3:13 p.m. | Last Modified: 5 Aug 2019, 3:13 p.m.
Panel Version: 1.194
Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group. Comment : SCA 12 expansion
Created: 27 Apr 2019, 9:35 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of GMS Neurology specialist test group. Comment: Associated with CAG expanions, no evidence for SNVs - requires STR calling. Do you report variants in this gene as part of your current diagnostic practice? No
Created: 14 Apr 2019, 4:12 p.m.
Source PanelApp panels : Hereditary ataxia 1.148
Sources: Expert list
Created: 21 Dec 2018, 1:21 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 12 604326

Publications

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
  • London North GLH
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • 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

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: 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

7 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to STR: PPP2R2B_CAG.

14 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to STR: PPP2R2B_CAG.

14 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: PPP2R2B_CAG. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Source PanelApp panels : Hered

21 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).

21 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 Hereditary ataxia - 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