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.
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
SOURCES: ORPHANET
SPINOCEREBELLAR ATAXIA 12; SCA12
Most common symptoms of SPINOCEREBELLAR ATAXIA 12; SCA12
- Ataxia
- Peripheral neuropathy
- Hyperreflexia
- Dysarthria
- Tremor
SOURCES: OMIM
Search interest in PPP2R2B
Potential gene panels for PPP2R2B gene
SCA12 (PPP2R2B) Repeat Expansion Test Panel
By Athena Diagnostics Inc
This panel specifically test the PPP2R2B gene.
More info about this panelAtaxia, Comprehensive Evaluation Panel
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 panelAtaxia, Complete Dominant Evaluation Panel
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 panelSpinocerebellar ataxia 12 Panel
By Center for Human Genetics, Inc
This panel specifically test the PPP2R2B gene.
More info about this panelAtaxia Repeat Expansion Panel Panel
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 panelSpinocerebellar Ataxia Type 12 Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the PPP2R2B gene.
More info about this panelProtein phosphatase 2, regulatory subunit B (PPP2R2B) gene CAG triplet repeat test Panel
By Neurogenetics Department Cyprus Institute of Neurology and Genetics
This panel specifically test the PPP2R2B gene.
More info about this panelSpinocerebellar Ataxia 12 Panel
By Laboratorio di Neurogenetica Istituto di Farmacologia Traslazionale - CNR
This panel specifically test the PPP2R2B gene.
More info about this panelPPP2R2B. CAG expansion detection by PCR Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PPP2R2B gene.
More info about this panelSpinocerebellar ataxia 12 (SCA12, detection of CAG expansion on PPP2R2B gene) Panel
By CGC Genetics
This panel specifically test the PPP2R2B gene.
More info about this panelSpinocerebellar ataxias SCA8, SCA10, SCA12 and SCA17 (expansion on genes ATXN8OS/ATXN8, ATXN10,PPP2R2B and TBP) Panel
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 panelSpinocerebellar Ataxia Type12 Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the PPP2R2B gene.
More info about this panelNeurogenetic Disorders - panels Panel
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 panelComprehensive Spinocerebellar Ataxia Repeat Expansion Panel (SCA 1, 2, 3, 6, 7, 8, 10, 12, 17, 36 & DRPLA) Panel
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 panelAtaxia and differential diagnoses Panel Panel
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 panelAtaxia, autosomal dominant and X-linked Panel Panel
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 panelSpinocerebellar ataxia 12 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the PPP2R2B gene.
More info about this panelSpinocerebellar Ataxia 12 Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the PPP2R2B gene.
More info about this panelSpinocerebellar ataxia type 12 (SCA12): PPP2R2B gene, CAG expansion analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the PPP2R2B gene.
More info about this panelSpinocerebellar ataxia Panel
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 panelPPP2R2B Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PPP2R2B gene.
More info about this panelAtaxia Panel Panel
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 panelSpinocerebellar ataxia type 12 Panel
By Bioarray
This panel specifically test the PPP2R2B gene.
More info about this panelSPINOCEREBELLAR ATAXIA (AUTOSOMAL DOMINANT) (SCAs) Panel
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 panelSpinocerebellar ataxia panel Panel
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 panelAtaxia Related Disorders , Panel Massive Sequencing (NGS) 35 Genes Panel
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 panelTempus xO assay Panel
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 panelSpinocerebellar ataxia type 12 Panel
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the PPP2R2B gene.
More info about this panelSpinocerebellar ataxia type 12 presymptomatic testing Panel
By Genetic Services Unit National Institute of Biomedical Genomics
This panel specifically test the PPP2R2B gene.
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