SCA8
MCID: SPN304
MIFTS: 47

Spinocerebellar Ataxia 8 (SCA8)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 8

MalaCards integrated aliases for Spinocerebellar Ataxia 8:

Name: Spinocerebellar Ataxia 8 57 20 72 13 6 70
Spinocerebellar Ataxia Type 8 12 25 20 58 29 6 15
Sca8 57 25 20 58 72
Ataxia, Spinocerebellar, Type 8 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 8
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset between 18 and 65 years
sca8 is caused by bidirectional transcription on chromosome 13q21 involving complementary repeat expansion in atxn8 and atxn8-opposite strand
normal alleles contain 15 to 50 repeats
pathogenic alleles contain 71 to 1,300 repeats


HPO:

31
spinocerebellar ataxia 8:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance In the large family (mn-a) originally reported to have sca8 (lod 6.8 at θ:0.00), affected individuals have longer ctg·cag repeat tracts (mean: 117) than the 21 asymptomatic individuals with a ctg·cag repeat expansion (mean: 92; p<10-6). these results indicate that repeat length plays a role in disease penetrance [koob et al 1999, day et al 2000]. further analysis of other families showed that the pathogenic range can vary among families and that a positive test for an atxn8os/atxn8 expansion, regardless of the repeat size, cannot be used to predict whether an asymptomatic individual will develop ataxia [ranum et al 1999, moseley et al 2000c, worth et al 2000, ikeda et al 2004]....

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050959
OMIM® 57 608768
OMIM Phenotypic Series 57 PS164400
MeSH 44 D020754
MESH via Orphanet 45 C537307
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 71 C1837454
Orphanet 58 ORPHA98760
MedGen 41 C1837454
UMLS 70 C1837454

Summaries for Spinocerebellar Ataxia 8

GARD : 20 Spinocerebellar ataxia type 8 (SCA8) is an inherited neurodegenerative condition characterized by slowly progressive ataxia (problems with movement, balance, and coordination). This condition typically occurs in adulthood and usually progresses over decades. Common initial symptoms include dysarthria, slow speech, and trouble walking. Some affected individuals experience nystagmus and other abnormal eye movements. Life span is typically not shortened. This condition is inherited in an autosomal dominant manner, although not all individuals with abnormalities in the disease-causing gene will develop the disease (called reduced penetrance ).

MalaCards based summary : Spinocerebellar Ataxia 8, also known as spinocerebellar ataxia type 8, is related to spinocerebellar ataxia, autosomal recessive 8 and spinocerebellar ataxia 12, and has symptoms including tremor, muscle spasticity and abnormal pyramidal signs. An important gene associated with Spinocerebellar Ataxia 8 is ATXN8OS (ATXN8 Opposite Strand LncRNA), and among its related pathways/superpathways is Spinocerebellar ataxia. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are hyperreflexia and nystagmus

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has material basis in mutation in the ATXN80S gene.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia 8: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA8 is an autosomal dominant cerebellar ataxia (ADCA). It is caused by expansion of a CAG repeat in ATXN8, which is translated into a nearly pure polyglutamine protein which forms 1C2-positive inclusions in Purkinje cells and other neurons.

More information from OMIM: 608768 PS164400
GeneReviews: NBK1268

Related Diseases for Spinocerebellar Ataxia 8

Diseases in the Spinocerebellar Ataxia 2 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 6
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia, Autosomal Recessive 28 Spinocerebellar Ataxia Type 19/22
Grid2-Related Spinocerebellar Ataxia Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 8 32.5 SYNE1 ATXN7
2 spinocerebellar ataxia 12 31.9 PPP2R2B ATXN8OS ATXN7
3 machado-joseph disease 30.6 PPP2R2B ATXN8OS ATXN7 ATXN10
4 hereditary ataxia 30.4 TWNK PPP2R2B NOP56 ATXN8OS ATXN7 ATXN10
5 friedreich ataxia 30.3 PPP2R2B ATXN8OS ATXN10
6 choreatic disease 30.2 JPH3 C9orf72 ATXN7
7 myotonic dystrophy 30.1 MBNL2 MBNL1 DMPK CNBP CELF1
8 neuromuscular disease 30.1 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
9 spinocerebellar ataxia 36 30.1 NOP56 C9orf72 ATXN8OS ATXN10
10 spinocerebellar ataxia 17 30.0 PPP2R2B JPH3 ATXN8OS ATXN7
11 dentatorubral-pallidoluysian atrophy 29.9 TWNK PPP2R2B NOP56 MBNL1 JPH3 CNBP
12 autosomal dominant cerebellar ataxia 29.6 TWNK SCAANT1 PPP2R2B NOP56 MBNL1 KLHL1
13 myotonic dystrophy 2 29.6 PPP2R2B NOP56 MBNL2 MBNL1 DMPK CNBP
14 myotonic dystrophy 1 29.4 PPP2R2B MBNL2 MBNL1 JPH3 DMPK CNBP
15 huntington disease-like 2 28.8 TWNK PPP2R2B NOP56 MBNL2 MBNL1 JPH3
16 fragile x-associated tremor/ataxia syndrome 28.8 PPP2R2B NOP56 MBNL2 MBNL1 JPH3 FMR1-AS1
17 mitochondrial dna depletion syndrome 7 11.5
18 ataxia and polyneuropathy, adult-onset 10.4
19 myotonic cataract 10.3 TWNK DMPK
20 parkinsonism 10.3
21 tactile agnosia 10.3 PPP2R2B ATXN7
22 cerebellar ataxia type 9 10.3 PPP2R2B ATXN7 ATXN10
23 spinocerebellar ataxia 37 10.3 NOP56 ATXN8OS ATXN10
24 muscular disease 10.3 MBNL1 DMPK CNBP
25 spinocerebellar ataxia 1 10.3 PPP2R2B ATXN8OS ATXN7 ATXN10
26 familial adult myoclonic epilepsy 10.3 C9orf72 ATXN8OS ATXN10
27 immature cataract 10.3 DMPK CNBP
28 spinocerebellar ataxia 31 10.3 NOP56 C9orf72 ATXN10
29 myotonia 10.2 MBNL1 DMPK CNBP
30 spinocerebellar ataxia 6 10.2 PPP2R2B ATXN8OS ATXN7 ATXN10
31 holoprosencephaly 5 10.2 JPH3 ATXN8OS
32 spinal muscular atrophy, distal, autosomal recessive, 4 10.2 SYNE1 C9orf72
33 autosomal recessive cerebellar ataxia 10.2 TWNK SYNE1 ATXN7
34 huntington disease 10.2
35 epilepsy 10.2
36 spinocerebellar ataxia 2 10.2 JPH3 C9orf72 ATXN8OS ATXN7
37 spinocerebellar ataxia 30 10.2 PPP2R2B NOP56 ATXN7 ATXN10
38 oculopharyngeal muscular dystrophy 10.2 MBNL1 DMPK CNBP CELF1
39 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.2 NOP56 MBNL1 C9orf72 ATXN10
40 lens disease 10.2 MBNL1 DMPK CNBP CELF1
41 parkinson disease, late-onset 10.2
42 spinocerebellar ataxia 7 10.2 SCAANT1 FMR1-AS1 BACE1-AS ATXN8OS ATXN7
43 muscle tissue disease 10.1 MBNL1 DMPK CNBP
44 episodic kinesigenic dyskinesia 1 10.1
45 ataxia with vitamin 3 deficiency 10.1
46 kearns-sayre syndrome 10.1
47 langerhans cell histiocytosis 10.1
48 status epilepticus 10.1
49 histiocytosis 10.1
50 progressive myoclonus epilepsy 10.1

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 8:



Diseases related to Spinocerebellar Ataxia 8

Symptoms & Phenotypes for Spinocerebellar Ataxia 8

Human phenotypes related to Spinocerebellar Ataxia 8:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
2 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
3 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
4 gait ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002066
5 cerebellar atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0001272
6 rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0002063
7 impotence 58 31 frequent (33%) Frequent (79-30%) HP:0000802
8 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
9 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
10 postural instability 58 31 frequent (33%) Frequent (79-30%) HP:0002172
11 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
12 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
13 spastic dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0002464
14 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
15 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
16 impaired vibratory sensation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002495
17 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
18 hypoplasia of the pons 58 31 occasional (7.5%) Occasional (29-5%) HP:0012110
19 aspiration 58 31 occasional (7.5%) Occasional (29-5%) HP:0002835
20 facial grimacing 58 31 occasional (7.5%) Occasional (29-5%) HP:0000273
21 impaired smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0007772
22 sensory neuropathy 31 occasional (7.5%) HP:0000763
23 spasticity 58 31 Frequent (79-30%) HP:0001257
24 abnormal pyramidal sign 31 HP:0007256
25 ataxia 58 Frequent (79-30%)
26 dysarthria 31 HP:0001260
27 tremor 31 HP:0001337
28 peripheral neuropathy 31 HP:0009830
29 progressive cerebellar ataxia 31 HP:0002073
30 incoordination 31 HP:0002311
31 slow saccadic eye movements 31 HP:0000514
32 dysmetric saccades 31 HP:0000641
33 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
dysarthria
tremor
dysphagia
cerebellar atrophy
more
Neurologic Peripheral Nervous System:
sensory neuropathy has been reported

Head And Neck Eyes:
nystagmus
impaired smooth pursuit
dysmetric saccades
slow saccades

Clinical features from OMIM®:

608768 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia 8:


tremor; muscle spasticity; abnormal pyramidal signs

Drugs & Therapeutics for Spinocerebellar Ataxia 8

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 8

Genetic Tests for Spinocerebellar Ataxia 8

Genetic tests related to Spinocerebellar Ataxia 8:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia Type 8 29 ATXN8 ATXN8OS

Anatomical Context for Spinocerebellar Ataxia 8

MalaCards organs/tissues related to Spinocerebellar Ataxia 8:

40
Eye, Cerebellum, Spinal Cord, Pons, Brain

Publications for Spinocerebellar Ataxia 8

Articles related to Spinocerebellar Ataxia 8:

(show top 50) (show all 113)
# Title Authors PMID Year
1
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. 25 57 6 61
16804541 2006
2
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) 57 25 6
10192387 1999
3
RNA gain-of-function in spinocerebellar ataxia type 8. 25 57 61
19680539 2009
4
Molecular and clinical analyses of spinocerebellar ataxia type 8 in Japan. 61 25 57
10690991 2000
5
False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy. 57 25
15732096 2005
6
Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes. 61 57
18418692 2008
7
Infantile onset spinocerebellar ataxia caused by compound heterozygosity for Twinkle mutations and modeling of Twinkle mutations causing recessive disease. 6
27551684 2016
8
Oromandibular and lingual dystonia associated with spinocerebellar ataxia type 8. 25 61
23283653 2012
9
Non-ATG-initiated translation directed by microsatellite expansions. 61 25
21173221 2011
10
RNA-mediated neurodegeneration in repeat expansion disorders. 57
20373340 2010
11
Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. 61 25
19559641 2009
12
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 6
17722119 2007
13
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 6
17921179 2007
14
Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. 57
17060579 2006
15
Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits. 61 25
17005861 2006
16
RNA-mediated neuromuscular disorders. 61 25
16776586 2006
17
Cognitive impairment in spinocerebellar ataxia type 8. 25 61
15958266 2005
18
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. 6
16135556 2005
19
Early onset of ataxia in a child with a pathogenic SCA8 allele. 61 25
16087061 2005
20
Sporadic SCA8 mutation resembling corticobasal degeneration. 61 25
15823478 2005
21
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. 25 61
15152344 2004
22
Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. 61 25
14966165 2004
23
Molecular genetics of spinocerebellar ataxia type 8 (SCA8). 61 25
14526178 2003
24
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia. 61 25
12372061 2002
25
The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved. 61 25
11919683 2002
26
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. 61 25
11708995 2001
27
Incoordinated thought and emotion in spinocerebellar ataxia type 8. 25 61
11355159 2001
28
Long repeat tracts at SCA8 in major psychosis. 25 61
11121201 2000
29
Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI. 25 61
11102643 2000
30
Spinocerebellar ataxia type 8: clinical features in a large family. 25 61
10980728 2000
31
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. 25 61
10976642 2000
32
The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). 61 25
10888605 2000
33
An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. 25 61
10712198 2000
34
Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease. 25
24285970 2013
35
Atypical parkinsonism and SCA8. 25
16368257 2006
36
Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. 25
16037936 2005
37
Giant SCA8 alleles in nine children whose mother has two moderately large ones. 25
15786481 2005
38
The occurrence of dominant spinocerebellar ataxias among 251 Finnish ataxia patients and the role of predisposing large normal alleles in a genetically isolated population. 25
15691283 2005
39
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. 25
15148151 2004
40
Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. 25
14960773 2004
41
Do CTG expansions at the SCA8 locus cause ataxia? 25
12838526 2003
42
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. 25
12545428 2003
43
SCA8 in the Spanish population including one homozygous patient. 25
12431257 2002
44
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 25
12140678 2002
45
SCA8 repeat expansions in ataxia: a controversial association. 25
11591855 2001
46
Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. 25
11506407 2001
47
Detection of expansion regions in Portuguese bipolar families. 25
11121196 2000
48
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. 25
11017075 2000
49
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. 25
10958651 2000
50
Reply- 25
10700169 2000

Variations for Spinocerebellar Ataxia 8

ClinVar genetic disease variations for Spinocerebellar Ataxia 8:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATXN8OS , ATXN8 NR_002717.2(ATXN8OS):n.1103CTG[(107_127)] Microsatellite Pathogenic 562101 GRCh37:
GRCh38:
2 TWNK NM_021830.5(TWNK):c.1287C>T (p.Ala429=) SNV Pathogenic 21673 rs80356541 GRCh37: 10:102749444-102749444
GRCh38: 10:100989687-100989687
3 TWNK NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) SNV Pathogenic 4630 rs80356542 GRCh37: 10:102748919-102748919
GRCh38: 10:100989162-100989162
4 TWNK NM_021830.5(TWNK):c.49del (p.Leu17fs) Deletion Pathogenic 694436 rs779142717 GRCh37: 10:102748013-102748013
GRCh38: 10:100988256-100988256
5 TWNK NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) SNV Pathogenic 4626 rs80356544 GRCh37: 10:102749527-102749527
GRCh38: 10:100989770-100989770
6 TWNK NM_021830.5(TWNK):c.333del (p.Leu112fs) Deletion Pathogenic 225837 rs886037832 GRCh37: 10:102748298-102748298
GRCh38: 10:100988541-100988541
7 TWNK NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) SNV Pathogenic 4627 rs80356540 GRCh37: 10:102750231-102750231
GRCh38: 10:100990474-100990474
8 TWNK NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) SNV Likely pathogenic 56728 rs386834147 GRCh37: 10:102748214-102748214
GRCh38: 10:100988457-100988457
9 TWNK NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) SNV Likely pathogenic 225838 rs374997012 GRCh37: 10:102748871-102748871
GRCh38: 10:100989114-100989114
10 TWNK NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) SNV Likely pathogenic 694431 rs781016340 GRCh37: 10:102749166-102749166
GRCh38: 10:100989409-100989409
11 TWNK NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) SNV Likely pathogenic 694432 rs753386843 GRCh37: 10:102750661-102750661
GRCh38: 10:100990904-100990904
12 TWNK NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) SNV Likely pathogenic 694434 rs1366090807 GRCh37: 10:102749471-102749471
GRCh38: 10:100989714-100989714
13 TWNK NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) SNV Likely pathogenic 56727 rs386834146 GRCh37: 10:102749544-102749544
GRCh38: 10:100989787-100989787
14 TWNK NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) SNV Likely pathogenic 638300 rs1590020571 GRCh37: 10:102749598-102749598
GRCh38: 10:100989841-100989841
15 TWNK NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) SNV Likely pathogenic 56726 rs386834145 GRCh37: 10:102749523-102749523
GRCh38: 10:100989766-100989766
16 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV Conflicting interpretations of pathogenicity 214185 rs863223921 GRCh37: 10:102749163-102749163
GRCh38: 10:100989406-100989406
17 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His) SNV Uncertain significance 214180 rs182559752 GRCh37: 10:102753257-102753257
GRCh38: 10:100993500-100993500
18 TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) SNV Uncertain significance 298500 rs62626271 GRCh37: 10:102749009-102749009
GRCh38: 10:100989252-100989252
19 TWNK NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) SNV Uncertain significance 1030770 GRCh37: 10:102753217-102753217
GRCh38: 10:100993460-100993460
20 TWNK NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) SNV Uncertain significance 1033571 GRCh37: 10:102749453-102749453
GRCh38: 10:100989696-100989696
21 TWNK NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) SNV Uncertain significance 279716 rs369223258 GRCh37: 10:102753262-102753262
GRCh38: 10:100993505-100993505
22 TWNK NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) SNV Uncertain significance 694394 rs764669712 GRCh37: 10:102748760-102748760
GRCh38: 10:100989003-100989003
23 TWNK NM_021830.5(TWNK):c.-290G>C SNV Uncertain significance 298491 rs62626270 GRCh37: 10:102747678-102747678
GRCh38: 10:100987921-100987921
24 TWNK NM_021830.5(TWNK):c.*747C>G SNV Uncertain significance 298518 rs886046638 GRCh37: 10:102754014-102754014
GRCh38: 10:100994257-100994257
25 TWNK NM_021830.5(TWNK):c.*234T>G SNV Uncertain significance 298506 rs886046633 GRCh37: 10:102753501-102753501
GRCh38: 10:100993744-100993744
26 TWNK NM_021830.5(TWNK):c.*619G>A SNV Uncertain significance 298516 rs886046637 GRCh37: 10:102753886-102753886
GRCh38: 10:100994129-100994129
27 TWNK NM_021830.5(TWNK):c.-650A>G SNV Uncertain significance 298484 rs187213541 GRCh37: 10:102747318-102747318
GRCh38: 10:100987561-100987561
28 TWNK NM_021830.5(TWNK):c.*555G>A SNV Uncertain significance 298514 rs886046635 GRCh37: 10:102753822-102753822
GRCh38: 10:100994065-100994065
29 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=) SNV Uncertain significance 298497 rs886046631 GRCh37: 10:102748243-102748243
GRCh38: 10:100988486-100988486
30 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=) SNV Uncertain significance 281415 rs148234280 GRCh37: 10:102748351-102748351
GRCh38: 10:100988594-100988594
31 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val) SNV Uncertain significance 298495 rs772221026 GRCh37: 10:102748044-102748044
GRCh38: 10:100988287-100988287
32 TWNK NM_021830.5(TWNK):c.-644A>T SNV Uncertain significance 298485 rs886046623 GRCh37: 10:102747324-102747324
GRCh38: 10:100987567-100987567
33 TWNK NM_021830.5(TWNK):c.*709C>G SNV Uncertain significance 298517 rs41291470 GRCh37: 10:102753976-102753976
GRCh38: 10:100994219-100994219
34 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV Uncertain significance 214178 rs370814108 GRCh37: 10:102753187-102753187
GRCh38: 10:100993430-100993430
35 TWNK NM_021830.5(TWNK):c.492C>T (p.Leu164=) SNV Uncertain significance 298498 rs775463083 GRCh37: 10:102748459-102748459
GRCh38: 10:100988702-100988702
36 TWNK NM_021830.5(TWNK):c.*763T>C SNV Uncertain significance 298519 rs886046639 GRCh37: 10:102754030-102754030
GRCh38: 10:100994273-100994273
37 TWNK NM_021830.5(TWNK):c.*438G>C SNV Uncertain significance 298510 rs886046634 GRCh37: 10:102753705-102753705
GRCh38: 10:100993948-100993948
38 TWNK NM_021830.5(TWNK):c.*301C>T SNV Uncertain significance 298507 rs41291468 GRCh37: 10:102753568-102753568
GRCh38: 10:100993811-100993811
39 TWNK NM_021830.5(TWNK):c.1488T>C (p.Thr496=) SNV Uncertain significance 298502 rs549767223 GRCh37: 10:102750196-102750196
GRCh38: 10:100990439-100990439
40 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV Uncertain significance 298499 rs754389465 GRCh37: 10:102748889-102748889
GRCh38: 10:100989132-100989132
41 TWNK NM_021830.5(TWNK):c.-549G>A SNV Uncertain significance 298487 rs886046625 GRCh37: 10:102747419-102747419
GRCh38: 10:100987662-100987662
42 TWNK NM_021830.5(TWNK):c.-585T>G SNV Uncertain significance 298486 rs886046624 GRCh37: 10:102747383-102747383
GRCh38: 10:100987626-100987626
43 TWNK NM_021830.5(TWNK):c.*367A>G SNV Uncertain significance 298508 rs62626296 GRCh37: 10:102753634-102753634
GRCh38: 10:100993877-100993877
44 TWNK NM_021830.5(TWNK):c.-423C>T SNV Uncertain significance 298489 rs886046627 GRCh37: 10:102747545-102747545
GRCh38: 10:100987788-100987788
45 TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV Uncertain significance 298501 rs200798080 GRCh37: 10:102749068-102749068
GRCh38: 10:100989311-100989311
46 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) SNV Uncertain significance 298504 rs886046632 GRCh37: 10:102753065-102753065
GRCh38: 10:100993308-100993308
47 TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV Uncertain significance 136587 rs11542130 GRCh37: 10:102748606-102748606
GRCh38: 10:100988849-100988849
48 TWNK NM_021830.5(TWNK):c.1735-14C>A SNV Uncertain significance 136594 rs201795189 GRCh37: 10:102752933-102752933
GRCh38: 10:100993176-100993176
49 TWNK NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) SNV Uncertain significance 383137 rs144001072 GRCh37: 10:102750642-102750642
GRCh38: 10:100990885-100990885
50 TWNK NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) SNV Uncertain significance 426493 rs767175342 GRCh37: 10:102748023-102748023
GRCh38: 10:100988266-100988266

Expression for Spinocerebellar Ataxia 8

Search GEO for disease gene expression data for Spinocerebellar Ataxia 8.

Pathways for Spinocerebellar Ataxia 8

Pathways related to Spinocerebellar Ataxia 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.08 TWNK NOP56 ATXN8OS ATXN10

GO Terms for Spinocerebellar Ataxia 8

Cellular components related to Spinocerebellar Ataxia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear outer membrane GO:0005640 8.96 SYNE1 DMPK
2 cytoplasmic stress granule GO:0010494 8.8 MBNL1 CELF1 C9orf72

Biological processes related to Spinocerebellar Ataxia 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.16 SYNE1 ATXN7
2 regulation of alternative mRNA splicing, via spliceosome GO:0000381 9.13 MBNL2 MBNL1 CELF1
3 regulation of RNA splicing GO:0043484 8.8 MBNL2 MBNL1 CELF1

Sources for Spinocerebellar Ataxia 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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