PPP2R2B gene related symptoms and diseases

All the information presented here about the PPP2R2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PPP2R2B gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Dementia Very Common - Between 80% and 100% cases
Action tremor Very Common - Between 80% and 100% cases
Sensorimotor neuropathy Very Common - Between 80% and 100% cases
Parkinsonism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with PPP2R2B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Cerebellar atrophy
  • Hyperreflexia
  • Not very common - Between 30% and 50% cases

  • Axial dystonia
  • Dysmetria
  • Cerebral cortical atrophy
  • Gait ataxia
  • Anxiety
  • Abnormality of the eye

And 28 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PPP2R2B gene

Here you will find a list of rare diseases related to the PPP2R2B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPINOCEREBELLAR ATAXIA TYPE 12


Alternate names

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Description

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

Most common symptoms of SPINOCEREBELLAR ATAXIA TYPE 12

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


More info about SPINOCEREBELLAR ATAXIA TYPE 12

SOURCES: ORPHANET

SPINOCEREBELLAR ATAXIA 12; SCA12


Most common symptoms of SPINOCEREBELLAR ATAXIA 12; SCA12

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


More info about SPINOCEREBELLAR ATAXIA 12; SCA12

SOURCES: OMIM


Potential gene panels for PPP2R2B gene

SCA12 (PPP2R2B) Repeat Expansion Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the PPP2R2B gene.

More info about this panel

Ataxia, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Comprehensive Evaluation that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP TTPA

More info about this panel

Ataxia, Complete Dominant Evaluation Panel

United States.

By Athena Diagnostics Inc Ataxia, Complete Dominant Evaluation that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SLC1A3 SPTBN2 TBP VAMP1 CACNA1A

More info about this panel

Spinocerebellar ataxia 12 Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the PPP2R2B gene.

More info about this panel

Ataxia Repeat Expansion Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Repeat Expansion Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS TBP CACNA1A ATN1 FXN ATXN3

More info about this panel

Spinocerebellar Ataxia Type 12 Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the PPP2R2B gene.

More info about this panel

Protein phosphatase 2, regulatory subunit B (PPP2R2B) gene CAG triplet repeat test Panel

Cyprus.

By Neurogenetics Department Cyprus Institute of Neurology and Genetics

This panel specifically test the PPP2R2B gene.

More info about this panel

Spinocerebellar Ataxia 12 Panel

Italy.

By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR

This panel specifically test the PPP2R2B gene.

More info about this panel

PPP2R2B. CAG expansion detection by PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PPP2R2B gene.

More info about this panel

Spinocerebellar ataxia 12 (SCA12, detection of CAG expansion on PPP2R2B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PPP2R2B gene.

More info about this panel

Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP) Panel

Portugal.

By CGC Genetics Spinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP) that also includes the following genes: ATXN10 ATXN8OS TBP ATXN8 PPP2R2B

More info about this panel

Spinocerebellar Ataxia Type12 Panel

India.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital

This panel specifically test the PPP2R2B gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Comprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 TBP CACNA1A NOP56 ATN1 ATXN8 ATXN3

More info about this panel

Ataxia and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Ataxia and differential diagnoses Panel that also includes the following genes: RPIA SACS ATXN1 ATXN10 ATXN2 ATXN7 SCN2A SLC17A5 SLC1A3 SLC6A1

More info about this panel

Ataxia, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Ataxia, autosomal dominant and X-linked Panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPG7 SPTBN2 TBP VAMP1 VLDLR

More info about this panel

Spinocerebellar ataxia 12 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the PPP2R2B gene.

More info about this panel

Spinocerebellar Ataxia 12 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PPP2R2B gene.

More info about this panel

Spinocerebellar ataxia type 12 (SCA12): PPP2R2B gene, CAG expansion analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the PPP2R2B gene.

More info about this panel

Spinocerebellar ataxia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Spinocerebellar ataxia that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SLC1A3 SPTBN2 TBP TTPA VLDLR

More info about this panel

PPP2R2B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PPP2R2B gene.

More info about this panel

Ataxia Panel Panel

Finland.

By Blueprint Genetics Ataxia Panel that also includes the following genes: SACS SLC1A3 SLC20A2 SLC2A1 SLC9A6 SPG7 SPTBN2 STUB1 TWNK ACO2

More info about this panel

Spinocerebellar ataxia type 12 Panel

Spain.

By Bioarray

This panel specifically test the PPP2R2B gene.

More info about this panel

SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel

Spain.

By Laboratorio de Genetica Clinica SL SPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP CACNA1A NOP56 TGM6

More info about this panel

Spinocerebellar ataxia panel Panel

Canada.

By LifeLabs Genetics Spinocerebellar ataxia panel that also includes the following genes: ATXN1 ATXN10 ATXN2 ATXN7 ATXN8OS SPTBN2 TBP VAMP1 CACNA1A NOP56

More info about this panel

Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel

Spain.

By Reference Laboratory Genetics Ataxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes that also includes the following genes: SACS ATXN1 ATXN10 ATXN2 ATXN7 SPTBN2 TBP TTPA VLDLR CACNA1A

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel

Spinocerebellar ataxia type 12 Panel

India.

By Genetic Services Unit National Institute of Biomedical Genomics

This panel specifically test the PPP2R2B gene.

More info about this panel

Spinocerebellar ataxia type 12 presymptomatic testing Panel

India.

By Genetic Services Unit National Institute of Biomedical Genomics

This panel specifically test the PPP2R2B gene.

More info about this panel


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