|
Spinocerebellar Ataxia 12
|
0.700 |
Biomarker
|
disease |
BEFREE |
Spinocerebellar ataxia type-12 (SCA12) is a neurological disorder caused due to triplet (CAG) repeat expansion in 5' UTR of PPP2R2B.
|
30130680 |
2018 |
|
Spinocerebellar Ataxia 12
|
0.700 |
Biomarker
|
disease |
BEFREE |
Clinical behaviour of spinocerebellar ataxia type 12 and intermediate length abnormal CAG repeats in PPP2R2B.
|
27864267 |
2017 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of 46 CAG repeats within PPP2R2B as probably the shortest pathogenic allele for SCA12.
|
25634432 |
2015 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit B, beta isoform (PPP2R2B) gene.
|
25586539 |
2015 |
|
Spinocerebellar Ataxia 12
|
0.700 |
Biomarker
|
disease |
BEFREE |
These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) (ATN1).
|
26077168 |
2015 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The expansion of DNA triplet (CAG) repeats in 5'UTR of PPP2R2B gene appears to be the cause for the pathogenesis of the neurodegenerative disorder, SCA12.
|
22426495 |
2012 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This locus was flanked by markers rs681591 and rs32582 and includes PPP2R2B (protein phosphatase 2, regulatory subunit B, beta isoform), the causative gene of autosomal dominant spinocerebellar ataxia 12 (SCA12).
|
20937954 |
2010 |
|
Spinocerebellar Ataxia 12
|
0.700 |
Biomarker
|
disease |
BEFREE |
The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: SCA-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin.
|
17961920 |
2007 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia type 12 (SCA12) is an autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' region of the PPP2R2B gene on chromosome 5q31-5q32.
|
16138911 |
2005 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SCA12 is associated with an expansion of a CAG repeat in the 5' region of the gene PPP2R2B which encodes a brain-specific regulatory subunit of the protein phosphatase PP2A.
|
11719278 |
2002 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 12 (SCA12) is an autosomal dominant cerebellar ataxia (ADCA) described in a single family with a CAG repeat expansion in the PPP2R2B gene.
|
11198281 |
2001 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The expansion of a CAG repeat upstream of the PP2APR55beta gene has been recently reported as a novel cause of a dominantly inherited ataxia (SCA12) in a kindred with limb tremor as an early feature.
|
11708992 |
2001 |
|
Spinocerebellar Ataxia 12
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Spinocerebellar ataxia 12 (SCA12) is a recently identified form of autosomal dominant cerebellar ataxia associated with the expansion of an unstable CAG repeat in the 5' untranslated region of the gene PPP2R2B.
|
11761478 |
2001 |
|
Spinocerebellar Ataxia 12
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Spinocerebellar Ataxia 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Spinocerebellar Ataxia 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Spinocerebellar Ataxia 12
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|