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Ataxia - adult onset

STR: SCA12

Green List (high evidence)
Chromosome: 5
GRCh37 Position: 146258292-146258321
GRCh38 Position: 146878729-146878758
Repeated Sequence: CAG
Normal Number of Repeats: < 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 0 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

NM_181675.3:c.27CAG[X]
Uncertain if CAG repeat encodes polyglutamine or instead effects expression of specific splice variants of the encoded phosphatase
Normal: ≤32 repeats
Uncertain: ~40-50 repeats have been reported, 43 repeats is the lowest reported in an established affected individual in a family with SCA12
Established pathogenic (used as diagnostic cut-off): ≥51 repeats
Sources: Expert list
Created: 23 Aug 2021, 1:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 12 MIM#604326

Publications

Clinically Relevant

Interruptions in the repeated sequence are reported as part of standard diagnostic practise

Created: 23 Aug 2021, 1:17 a.m.

Panel version: 0.139

Details

Name
SCA12
Chromosome
5
GRCh37 Coordinates
146258292-146258321
GRCh38 Coordinates
146878729-146878758
Repeated Sequence
CAG
Normal Number of Repeats: <
32
Pathogenic Number of Repeats: = or >
51
Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 12 MIM#604326
OMIM
604325
Clinvar variants
Variants in PPP2R2B
Penetrance
None
Publications

History Filter Activity

23 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: sca12 has been classified as Green List (High Evidence).

23 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Str: sca12 has been classified as Green List (High Evidence).

23 Aug 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

STR: SCA12 was added STR: SCA12 was added to Ataxia - adult onset. Sources: Expert list Mode of inheritance for STR: SCA12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA12 were set to 27864267; 33811808 Phenotypes for STR: SCA12 were set to Spinocerebellar ataxia 12 MIM#604326 Review for STR: SCA12 was set to GREEN STR: SCA12 was marked as clinically relevant