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Adult onset movement 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: < or = 32
Pathogenic Number of Repeats: = or > 51

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)

Comment on list classification: This STR has been temporarily downgraded from Green to Amber, and will be repromoted when this clinical indication moves to WGS.
Created: 6 Oct 2020, 10:31 a.m. | Last Modified: 6 Oct 2020, 10:31 a.m.
Panel Version: 1.11

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. 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, 3:28 p.m. | Last Modified: 5 Aug 2019, 3:28 p.m.
Panel Version: 0.95
Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64
Sources: Expert list
Created: 11 Jan 2019, 4:15 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 12 604326

Details

Name
PPP2R2B_CAG
Chromosome
5
GRCh37 Coordinates
146258292-146258321
GRCh38 Coordinates
146878729-146878758
Repeated Sequence
CAG
Normal Number of Repeats: < or =
32
Pathogenic Number of Repeats: = or >
51
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
STR for-review
OMIM
604325
Clinvar variants
Variants in PPP2R2B
Penetrance
None

History Filter Activity

8 Oct 2020, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

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

6 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).

5 Aug 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STR: PPP2R2B_CAG.

11 Jan 2019, 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).

11 Jan 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

STR: PPP2R2B_CAG was added STR: PPP2R2B_CAG was added to Adult onset movement disorder. 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 Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326 Review for STR: PPP2R2B_CAG was set to GREEN