Spinocerebellar Ataxia 12; Sca12

Clinical Features

Top most frequent phenotypes and symptoms related to Spinocerebellar Ataxia 12; Sca12

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Cerebellar atrophy
  • Dystonia
  • Depressivity
  • Dementia
  • Cerebral cortical atrophy

And another 17 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Spinocerebellar Ataxia 12; Sca12 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCA12 (PPP2R2B) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

PPP2R2B
Specificity
100 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Spinocerebellar ataxia 12.

By Center for Human Genetics, Inc (United States).

PPP2R2B
Specificity
100 %
Genes
100 %
Ataxia Repeat Expansion Panel.

By Genetic Services Laboratory University of Chicago (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATN1, FXN, ATXN3, PPP2R2B
Specificity
10 %
Genes
100 %
Spinocerebellar Ataxia Type 12.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

PPP2R2B
Specificity
100 %
Genes
100 %
Protein phosphatase 2, regulatory subunit B (PPP2R2B) gene CAG triplet repeat test.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics (Cyprus).

PPP2R2B
Specificity
100 %
Genes
100 %
Spinocerebellar Ataxia 12.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR (Italy).

PPP2R2B
Specificity
100 %
Genes
100 %

We have 21 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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