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 73 13 6 71
Spinocerebellar Ataxia Type 8 12 25 20 58 29 6 15
Sca8 57 25 20 58 73
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-Mar-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 72 C1837454
Orphanet 58 ORPHA98760
MedGen 41 C1837454
UMLS 71 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 12 and machado-joseph disease, 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 : 73 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 12 31.9 PPP2R2B ATXN8OS ATXN7
2 machado-joseph disease 30.6 PPP2R2B ATXN8OS ATXN7 ATXN10
3 hereditary ataxia 30.4 TWNK PPP2R2B NOP56 ATXN8OS ATXN7 ATXN10
4 choreatic disease 30.2 JPH3 C9orf72 ATXN7
5 neuromuscular disease 30.2 MBNL1 DMPK CNBP CELF1 C9orf72
6 myotonic dystrophy 30.1 MBNL2 MBNL1 DMPK CNBP CELF1
7 friedreich ataxia 30.1 PPP2R2B ATXN8OS ATXN10
8 spinocerebellar ataxia 36 30.1 NOP56 C9orf72 ATXN8OS ATXN10
9 spinocerebellar ataxia 17 30.0 PPP2R2B JPH3 ATXN8OS ATXN7
10 dentatorubral-pallidoluysian atrophy 29.9 TWNK PPP2R2B NOP56 MBNL1 JPH3 CNBP
11 myotonic dystrophy 2 29.7 NOP56 MBNL2 MBNL1 DMPK CNBP CELF1
12 autosomal dominant cerebellar ataxia 29.6 TWNK SCAANT1 PPP2R2B NOP56 MBNL1 KLHL1
13 fragile x-associated tremor/ataxia syndrome 29.5 PPP2R2B NOP56 MBNL1 FMR1-AS1 DMPK CELF1
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 spinocerebellar ataxia, autosomal recessive 8 11.7
17 mitochondrial dna depletion syndrome 7 11.5
18 ataxia and polyneuropathy, adult-onset 10.4
19 myotonic cataract 10.3 TWNK DMPK
20 tactile agnosia 10.3 PPP2R2B ATXN7
21 parkinsonism 10.3
22 cerebellar ataxia type 9 10.3 PPP2R2B ATXN7 ATXN10
23 familial adult myoclonic epilepsy 10.3 C9orf72 ATXN8OS ATXN10
24 spinocerebellar ataxia 37 10.3 NOP56 ATXN8OS ATXN10
25 immature cataract 10.3 DMPK CNBP
26 spinocerebellar ataxia 1 10.3 PPP2R2B ATXN8OS ATXN7 ATXN10
27 spinocerebellar ataxia 31 10.3 NOP56 C9orf72 ATXN10
28 muscular disease 10.3 MBNL1 DMPK CNBP
29 spinocerebellar ataxia 6 10.2 PPP2R2B ATXN8OS ATXN7 ATXN10
30 autosomal recessive cerebellar ataxia 10.2 TWNK SYNE1 ATXN7
31 spinal muscular atrophy, distal, autosomal recessive, 4 10.2 SYNE1 C9orf72
32 huntington disease 10.2
33 epilepsy 10.2
34 spinocerebellar ataxia 2 10.2 JPH3 C9orf72 ATXN8OS ATXN7
35 spinocerebellar ataxia 30 10.2 PPP2R2B NOP56 ATXN7 ATXN10
36 myotonia 10.2 DMPK CNBP
37 oculopharyngeal muscular dystrophy 10.2 MBNL1 DMPK CNBP CELF1
38 lens disease 10.2 MBNL1 DMPK CNBP CELF1
39 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 10.2 NOP56 C9orf72 ATXN10
40 fragile x syndrome 10.2 MBNL1 FMR1-AS1 C9orf72 ATXN10
41 parkinson disease, late-onset 10.2
42 spinocerebellar ataxia 7 10.1 SCAANT1 FMR1-AS1 BACE1-AS ATXN8OS ATXN7
43 muscle tissue disease 10.1 MBNL1 DMPK CNBP
44 holoprosencephaly 5 10.1 JPH3 ATXN8OS
45 episodic kinesigenic dyskinesia 1 10.1
46 vitamin e, familial isolated deficiency of 10.1
47 kearns-sayre syndrome 10.1
48 langerhans cell histiocytosis 10.1
49 status epilepticus 10.1
50 histiocytosis 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-Mar-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-Mar-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 111)
# Title Authors PMID Year
1
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. 57 6 25 61
16804541 2006
2
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) 25 6 57
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 57 25
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
Oromandibular and lingual dystonia associated with spinocerebellar ataxia type 8. 61 25
23283653 2012
8
Non-ATG-initiated translation directed by microsatellite expansions. 25 61
21173221 2011
9
RNA-mediated neurodegeneration in repeat expansion disorders. 57
20373340 2010
10
Spinocerebellar ataxia 8: variable phenotype and unique pathogenesis. 61 25
19559641 2009
11
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 6
17722119 2007
12
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 6
17921179 2007
13
Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats. 57
17060579 2006
14
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
15
RNA-mediated neuromuscular disorders. 25 61
16776586 2006
16
Cognitive impairment in spinocerebellar ataxia type 8. 61 25
15958266 2005
17
Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. 6
16135556 2005
18
Early onset of ataxia in a child with a pathogenic SCA8 allele. 61 25
16087061 2005
19
Sporadic SCA8 mutation resembling corticobasal degeneration. 61 25
15823478 2005
20
Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia. 61 25
15152344 2004
21
Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports. 61 25
14966165 2004
22
Molecular genetics of spinocerebellar ataxia type 8 (SCA8). 25 61
14526178 2003
23
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Yugoslavia. 61 25
12372061 2002
24
The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved. 25 61
11919683 2002
25
Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. 25 61
11708995 2001
26
Incoordinated thought and emotion in spinocerebellar ataxia type 8. 61 25
11355159 2001
27
Asymptomatic CTG expansion at the SCA8 locus is associated with cerebellar atrophy on MRI. 61 25
11102643 2000
28
Long repeat tracts at SCA8 in major psychosis. 61 25
11121201 2000
29
Clinical and genetic findings in Finnish ataxia patients with the spinocerebellar ataxia 8 repeat expansion. 25 61
10976642 2000
30
Spinocerebellar ataxia type 8: clinical features in a large family. 61 25
10980728 2000
31
The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1). 25 61
10888605 2000
32
An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus. 25 61
10712198 2000
33
Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease. 25
24285970 2013
34
Atypical parkinsonism and SCA8. 25
16368257 2006
35
Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. 25
16037936 2005
36
Giant SCA8 alleles in nine children whose mother has two moderately large ones. 25
15786481 2005
37
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
38
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
39
Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group. 25
14960773 2004
40
Do CTG expansions at the SCA8 locus cause ataxia? 25
12838526 2003
41
SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6. 25
12545428 2003
42
SCA8 in the Spanish population including one homozygous patient. 25
12431257 2002
43
Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions. 25
12140678 2002
44
SCA8 repeat expansions in ataxia: a controversial association. 25
11591855 2001
45
Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. 25
11506407 2001
46
Detection of expansion regions in Portuguese bipolar families. 25
11121196 2000
47
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. 25
11017075 2000
48
SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. 25
10958651 2000
49
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles. 25
10712199 2000
50
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia. 25
10700168 2000

Variations for Spinocerebellar Ataxia 8

ClinVar genetic disease variations for Spinocerebellar Ataxia 8:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATXN8OS NR_002717.2(ATXN8OS):n.1103CTG[(107_127)] Microsatellite Pathogenic 562101
2 TWNK NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) SNV Pathogenic 4626 rs80356544 10:102749527-102749527 10:100989770-100989770
3 TWNK NM_021830.5(TWNK):c.1287C>T (p.Ala429=) SNV Pathogenic 21673 rs80356541 10:102749444-102749444 10:100989687-100989687
4 TWNK NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) SNV Pathogenic 4627 rs80356540 10:102750231-102750231 10:100990474-100990474
5 TWNK NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) SNV Pathogenic 4630 rs80356542 10:102748919-102748919 10:100989162-100989162
6 TWNK NM_021830.5(TWNK):c.333del (p.Leu112fs) Deletion Pathogenic 225837 rs886037832 10:102748298-102748298 10:100988541-100988541
7 TWNK NM_021830.5(TWNK):c.49del (p.Leu17fs) Deletion Pathogenic 694436 rs779142717 10:102748013-102748013 10:100988256-100988256
8 TWNK NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) SNV Likely pathogenic 56726 rs386834145 10:102749523-102749523 10:100989766-100989766
9 TWNK NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) SNV Likely pathogenic 56727 rs386834146 10:102749544-102749544 10:100989787-100989787
10 TWNK NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) SNV Likely pathogenic 56728 rs386834147 10:102748214-102748214 10:100988457-100988457
11 TWNK NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) SNV Likely pathogenic 638300 rs1590020571 10:102749598-102749598 10:100989841-100989841
12 TWNK NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) SNV Likely pathogenic 694431 rs781016340 10:102749166-102749166 10:100989409-100989409
13 TWNK NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) SNV Likely pathogenic 694432 rs753386843 10:102750661-102750661 10:100990904-100990904
14 TWNK NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) SNV Likely pathogenic 694434 rs1366090807 10:102749471-102749471 10:100989714-100989714
15 TWNK NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) SNV Likely pathogenic 225838 rs374997012 10:102748871-102748871 10:100989114-100989114
16 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV Conflicting interpretations of pathogenicity 214185 rs863223921 10:102749163-102749163 10:100989406-100989406
17 TWNK NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) SNV Uncertain significance 694394 rs764669712 10:102748760-102748760 10:100989003-100989003
18 TWNK NM_021830.5(TWNK):c.-470G>A SNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741
19 TWNK NM_021830.5(TWNK):c.*574C>T SNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084
20 TWNK NM_021830.5(TWNK):c.-290G>C SNV Uncertain significance 298491 rs62626270 10:102747678-102747678 10:100987921-100987921
21 TWNK NM_021830.5(TWNK):c.*747C>G SNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257
22 TWNK NM_021830.5(TWNK):c.*234T>G SNV Uncertain significance 298506 rs886046633 10:102753501-102753501 10:100993744-100993744
23 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308
24 TWNK NM_021830.5(TWNK):c.*619G>A SNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129
25 TWNK NM_021830.5(TWNK):c.-650A>G SNV Uncertain significance 298484 rs187213541 10:102747318-102747318 10:100987561-100987561
26 TWNK NM_021830.5(TWNK):c.*555G>A SNV Uncertain significance 298514 rs886046635 10:102753822-102753822 10:100994065-100994065
27 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val) SNV Uncertain significance 298495 rs772221026 10:102748044-102748044 10:100988287-100988287
28 TWNK NM_021830.5(TWNK):c.-644A>T SNV Uncertain significance 298485 rs886046623 10:102747324-102747324 10:100987567-100987567
29 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=) SNV Uncertain significance 298497 rs886046631 10:102748243-102748243 10:100988486-100988486
30 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=) SNV Uncertain significance 281415 rs148234280 10:102748351-102748351 10:100988594-100988594
31 TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV Uncertain significance 136587 rs11542130 10:102748606-102748606 10:100988849-100988849
32 TWNK NM_021830.5(TWNK):c.1735-14C>A SNV Uncertain significance 136594 rs201795189 10:102752933-102752933 10:100993176-100993176
33 TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV Uncertain significance 298501 rs200798080 10:102749068-102749068 10:100989311-100989311
34 TWNK NM_021830.5(TWNK):c.*709C>G SNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219
35 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV Uncertain significance 214178 rs370814108 10:102753187-102753187 10:100993430-100993430
36 TWNK NM_021830.5(TWNK):c.492C>T (p.Leu164=) SNV Uncertain significance 298498 rs775463083 10:102748459-102748459 10:100988702-100988702
37 TWNK NM_021830.5(TWNK):c.*763T>C SNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273
38 TWNK NM_021830.5(TWNK):c.*438G>C SNV Uncertain significance 298510 rs886046634 10:102753705-102753705 10:100993948-100993948
39 TWNK NM_021830.5(TWNK):c.-622C>T SNV Uncertain significance 877083 10:102747346-102747346 10:100987589-100987589
40 TWNK NM_021830.5(TWNK):c.-418C>T SNV Uncertain significance 877145 10:102747550-102747550 10:100987793-100987793
41 TWNK NM_021830.5(TWNK):c.-304G>A SNV Uncertain significance 877146 10:102747664-102747664 10:100987907-100987907
42 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV Uncertain significance 632124 rs758026634 10:102749037-102749037 10:100989280-100989280
43 TWNK NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV Uncertain significance 877318 10:102750280-102750280 10:100990523-100990523
44 TWNK NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) SNV Uncertain significance 877377 10:102753038-102753038 10:100993281-100993281
45 TWNK NM_021830.5(TWNK):c.*248G>A SNV Uncertain significance 877431 10:102753515-102753515 10:100993758-100993758
46 TWNK NM_021830.5(TWNK):c.-592C>T SNV Uncertain significance 878124 10:102747376-102747376 10:100987619-100987619
47 TWNK NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) SNV Uncertain significance 878242 10:102748563-102748563 10:100988806-100988806
48 TWNK NM_021830.5(TWNK):c.*301C>T SNV Uncertain significance 298507 rs41291468 10:102753568-102753568 10:100993811-100993811
49 TWNK NM_021830.5(TWNK):c.1488T>C (p.Thr496=) SNV Uncertain significance 298502 rs549767223 10:102750196-102750196 10:100990439-100990439
50 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV Uncertain significance 298499 rs754389465 10:102748889-102748889 10:100989132-100989132

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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