SCAR8
MCID: SPN207
MIFTS: 52

Spinocerebellar Ataxia, Autosomal Recessive 8 (SCAR8)

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, Autosomal Recessive 8

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 8:

Name: Spinocerebellar Ataxia, Autosomal Recessive 8 57 29 13 6 44 70
Arca1 57 12 20 43 58 72
Autosomal Recessive Cerebellar Ataxia Type 1 12 43 58 72 70
Scar8 57 12 20 58 72
Autosomal Recessive Spinocerebellar Ataxia 8 12 20 43 15
Recessive Ataxia of Beauce 12 20 43
Syne1-Related Autosomal Recessive Cerebellar Ataxia 12 20
Autosomal Recessive Ataxia, Beauce Type 12 58
Cerebellar Ataxia, Autosomal Recessive, Type 1; Arca1 57
Ataxia, Spinocerebellar, Autosomal Recessive, Type 8 39
Cerebellar Ataxia, Autosomal Recessive, Type 1 57
Spinocerebellar Ataxia, Autosomal Recessive, 8 72
Spinocerebellar Ataxia Autosomal Recessive 8 20
Autosomal Recessive Ataxia Beauce Type 20
Ataxia, Recessive, of Beauce 57
Ataxia Recessive of Beauce 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive ataxia, beauce type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

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

Miscellaneous:
highly variable phenotype
slowly progressive
variable age at onset, usually in second decade (range 6 to 40 years)
some patients have pure cerebellar ataxia
some patients have more a more complicated phenotype with spasticity, respiratory insufficiency, or cognitive impairment


HPO:

31
spinocerebellar ataxia, autosomal recessive 8:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 8

OMIM® : 57 Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a slowly progressive neurodegenerative disorder characterized by gait ataxia and other cerebellar signs, such as nystagmus and dysarthria. The age at onset is highly variable, and but most often is in the second or third decades. The disorder was initially identified in patients of French Canadian descent, most of whom have a relatively 'pure' form of the disorder. However, subsequent studies have shown that SCAR8 occurs worldwide and most commonly manifests with additional features, including spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies, consistent with a 'complicated' phenotype. Brain imaging typically shows cerebellar atrophy, sometimes with pontine involvement. Rare patients may have an early-onset multisystemic disorder with impaired intellectual development and respiratory dysfunction (summary by Synofzik et al., 2016). (610743) (Updated 05-Apr-2021)

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 8, also known as arca1, is related to spinocerebellar ataxia, autosomal recessive 14 and autosomal recessive cerebellar ataxia, and has symptoms including gait ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 8 is SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1), and among its related pathways/superpathways are Meiosis and Spinocerebellar ataxia. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are gait disturbance and cerebellar atrophy

Disease Ontology : 12 An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has material basis in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2.

MedlinePlus Genetics : 43 Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement due to a loss (atrophy) of nerve cells in the part of the brain that coordinates movement (the cerebellum). Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 88644 Definition A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several gene mutations.

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, 8: A form of spinocerebellar ataxia, 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. SCAR8 is an autosomal recessive form.

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 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, Autosomal Recessive 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia, autosomal recessive 14 31.5 SYNE1 SPTBN2 SACS COQ8A CACNA1A AFG3L2
2 autosomal recessive cerebellar ataxia 30.2 SYNE1 SPTBN2 SETX COQ8A CACNA1A ATXN7
3 muscular dystrophy 29.7 SYNE2 SYNE1 SUN2 SUN1 ESR1 EMD
4 autosomal dominant cerebellar ataxia 28.6 TGM6 SPTBN2 SLC1A6 SETX SACS CACNA1A
5 syne1 deficiency 10.3
6 arthrogryposis multiplex congenita 3, myogenic type 10.3 SYNE1-AS1 SYNE1 ESR1
7 cerebellar hypoplasia 10.3
8 cerebellar ataxia type 9 10.2 SPTBN2 ATXN7
9 spastic ataxia, charlevoix-saguenay type 10.2 SETX SACS
10 emerinopathy 10.2 SUN2 EMD
11 spinal muscular atrophy, distal, autosomal recessive, 4 10.2 SYNE1 SETX
12 x-linked emery-dreifuss muscular dystrophy 10.2 SYNE2 SYNE1 EMD
13 developmental and epileptic encephalopathy 5 10.2 SPTBN2 SLC1A6
14 buschke-ollendorff syndrome 10.2 SYNE2 SYNE1 EMD
15 multiple sclerosis 10.1
16 cerebellar degeneration 10.1
17 spinocerebellar ataxia 18 10.1 SPTBN2 AFG3L2
18 spinocerebellar ataxia 5 10.1 SPTBN2 SLC1A6
19 specific learning disability 10.1 SYNE2 CACNA1A
20 spastic ataxia 4 10.1 SACS AFG3L2
21 myopathy, x-linked, with postural muscle atrophy 10.1 SYNE2 SYNE1 SUN2 EMD
22 pelger-huet anomaly 10.0 SYNE2 SYNE1 SUN1 EMD
23 spastic paraplegia 7, autosomal recessive 10.0 SETX COQ8A AFG3L2
24 laminopathy 10.0 SYNE2 SUN2 SUN1 EMD
25 emery-dreifuss muscular dystrophy 4, autosomal dominant 10.0 SYNE2 SYNE1-AS1 SYNE1 ESR1 EMD
26 torticollis 10.0 TGM6 CACNA1A
27 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.0 COQ8A CACNA1A ATXN7
28 episodic ataxia, type 2 10.0 SPTBN2 CACNA1A ATXN7
29 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.0 SYNE2 EMD
30 spinocerebellar ataxia 2 10.0 SETX CACNA1A ATXN7
31 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0 SPTBN2 SETX COQ8A CACNA1A
32 emery-dreifuss muscular dystrophy 7, autosomal dominant 9.9 SYNE2 SYNE1 SUN2 SUN1 EMD
33 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.9 SYNE2 SYNE1 SUN2 SUN1 EMD
34 charcot-marie-tooth disease, axonal, type 2b1 9.9 SYNE2 SYNE1 SUN2 SUN1 EMD
35 emery-dreifuss muscular dystrophy 1, x-linked 9.9 SYNE2 SYNE1 SUN2 SUN1 EMD
36 greenberg dysplasia 9.9 SYNE2 SYNE1 SUN2 SUN1 EMD
37 cardiomyopathy, dilated, 1a 9.9 SYNE3 SYNE2 SYNE1 SUN1 EMD
38 machado-joseph disease 9.9 SPTBN2 CACNA1A ATXN7
39 ataxia and polyneuropathy, adult-onset 9.9
40 spinocerebellar ataxia 8 9.9
41 motor neuron disease 9.9
42 congenital amyoplasia 9.9
43 osteopoikilosis 9.9 SYNE2 EMD
44 episodic ataxia, type 6 9.9 SPTBN2 SLC1A6 CACNA1A ATXN7
45 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.8 TGM6 SETX SACS CACNA1A
46 hutchinson-gilford progeria syndrome 9.8 SYNE3 SYNE2 SYNE1 SUN2 SUN1 EMD
47 muscular dystrophy, congenital, lmna-related 9.8 SYNE4 SYNE2 SYNE1 SUN2 SUN1 EMD
48 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.7 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1
49 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1
50 choreatic disease 9.7 SETX CACNA1A ATXN7 AFG3L2

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



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 8

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 8

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 8:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001272
3 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
4 reduced tendon reflexes 58 31 frequent (33%) Frequent (79-30%) HP:0001315
5 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
6 fasciculations 58 31 frequent (33%) Frequent (79-30%) HP:0002380
7 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
8 lower limb spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002061
9 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
10 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
11 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
12 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
13 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
14 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
15 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
16 neonatal hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001319
17 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
18 dysmetria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001310
19 decreased fetal movement 58 31 occasional (7.5%) Occasional (29-5%) HP:0001558
20 pes cavus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001761
21 ophthalmoparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000597
22 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
23 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
24 urinary incontinence 58 31 occasional (7.5%) Occasional (29-5%) HP:0000020
25 ankle clonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0011448
26 emg: neuropathic changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0003445
27 impaired smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0007772
28 chronic axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007267
29 square-wave jerks 58 31 occasional (7.5%) Occasional (29-5%) HP:0025402
30 arm dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0031960
31 spasticity 58 31 very rare (1%) Frequent (79-30%) HP:0001257
32 abnormality of the respiratory system 58 31 very rare (1%) Very rare (<4-1%) HP:0002086
33 impaired vibratory sensation 58 31 very rare (1%) Very rare (<4-1%) HP:0002495
34 polyneuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001271
35 atrophy/degeneration affecting the brainstem 58 31 very rare (1%) Very rare (<4-1%) HP:0007366
36 motor polyneuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0007178
37 sensory axonal neuropathy 58 31 very rare (1%) Very rare (<4-1%) HP:0003390
38 peripheral axonal neuropathy 31 very rare (1%) HP:0003477
39 hyperreflexia 58 Frequent (79-30%)
40 nystagmus 31 HP:0000639
41 ataxia 58 Very frequent (99-80%)
42 gait ataxia 31 HP:0002066
43 upper motor neuron dysfunction 58 Very frequent (99-80%)
44 limb ataxia 31 HP:0002070
45 abnormal saccadic eye movements 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
dysarthria
dysmetria
gait ataxia
cerebellar atrophy
limb ataxia
more
Neurologic Peripheral Nervous System:
axonal peripheral neuropathy, mild (in some patients)
impaired vibration sense (in some patients)

Muscle Soft Tissue:
neurogenic changes seen on emg

Head And Neck Eyes:
ptosis
nystagmus
strabismus
abnormal saccades
abnormal smooth pursuit

Skeletal Feet:
pes cavus

Genitourinary Bladder:
urinary urgency (in some patients)

Respiratory:
restrictive respiratory insufficiency (in some patients)

Clinical features from OMIM®:

610743 (Updated 05-Apr-2021)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 8:


gait ataxia; cerebellar ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 8:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.65 AFG3L2 ATXN7 CACNA1A COQ8A EMD ESR1
2 nervous system MP:0003631 9.4 AFG3L2 ATXN7 CACNA1A COQ8A ESR1 SLC1A6

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 8

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 8

Cochrane evidence based reviews: spinocerebellar ataxia, autosomal recessive 8

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 8

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 8:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive 8 29 SYNE1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 8

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 8:

40
Eye, Cerebellum, Spinal Cord, Skeletal Muscle

Publications for Spinocerebellar Ataxia, Autosomal Recessive 8

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 8:

(show all 13)
# Title Authors PMID Year
1
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study. 57 6
27086870 2016
2
Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. 6 57
23325900 2013
3
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. 6 57
17503513 2007
4
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. 57 6
17159980 2007
5
SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. 6
28687974 2017
6
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
7
SYNE1 mutations in autosomal recessive cerebellar ataxia. 6
23959263 2013
8
Autosomal Recessive Cerebellar Ataxia 1: First Case Report Depicting a Variant in SYNE1 Gene in a Chilean Patient. 61
33651373 2021
9
Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. 61
32870032 2020
10
C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8. 61
31129264 2019
11
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain. 61
31103315 2019
12
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. 61
27782104 2017
13
A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8. 61
29081981 2017

Variations for Spinocerebellar Ataxia, Autosomal Recessive 8

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 8:

6 (show top 50) (show all 1787)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SYNE1 NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) SNV Pathogenic 995580 GRCh37: 6:152545688-152545688
GRCh38: 6:152224553-152224553
2 SYNE1 NM_182961.4(SYNE1):c.16390-2A>G SNV Pathogenic 667389 rs759460806 GRCh37: 6:152639400-152639400
GRCh38: 6:152318265-152318265
3 SYNE1 NM_182961.4(SYNE1):c.15918-12A>G SNV Pathogenic 2326 rs606231134 GRCh37: 6:152643033-152643033
GRCh38: 6:152321898-152321898
4 SYNE1-AS1 , SYNE1 NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) SNV Pathogenic 2327 rs119103243 GRCh37: 6:152702455-152702455
GRCh38: 6:152381320-152381320
5 SYNE1 NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) SNV Pathogenic 2329 rs119103244 GRCh37: 6:152522973-152522973
GRCh38: 6:152201838-152201838
6 SYNE1 NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) SNV Pathogenic 2330 rs119103245 GRCh37: 6:152534872-152534872
GRCh38: 6:152213737-152213737
7 SYNE1 NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs) Deletion Pathogenic 2331 rs606231135 GRCh37: 6:152668362-152668363
GRCh38: 6:152347227-152347228
8 SYNE1 NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter) SNV Pathogenic 157658 rs606231292 GRCh37: 6:152675952-152675952
GRCh38: 6:152354817-152354817
9 SYNE1 SYNE1, 5-BP DEL, NT334338 Deletion Pathogenic 2328 GRCh37:
GRCh38:
10 overlap with 9 genes NC_000006.12:g.(?_152122416)_(153426916_?)del Deletion Pathogenic 538429 GRCh37: 6:152443551-153748051
GRCh38: 6:152122416-153426916
11 SYNE1 NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter) SNV Pathogenic 212339 rs797046024 GRCh37: 6:152639367-152639367
GRCh38: 6:152318232-152318232
12 SYNE1 NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) SNV Pathogenic 212342 rs797046025 GRCh37: 6:152464868-152464868
GRCh38: 6:152143733-152143733
13 SYNE1 NM_182961.4(SYNE1):c.6877del (p.Glu2293fs) Deletion Pathogenic 212344 rs797046026 GRCh37: 6:152722425-152722425
GRCh38: 6:152401290-152401290
14 SYNE1 NM_182961.4(SYNE1):c.13299del (p.His4433fs) Deletion Pathogenic 204299 rs1563130387 GRCh37: 6:152652521-152652521
GRCh38: 6:152331386-152331386
15 SYNE1 NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter) SNV Pathogenic 436906 rs1554573328 GRCh37: 6:152534833-152534833
GRCh38: 6:152213698-152213698
16 SYNE1 NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter) SNV Pathogenic 436907 rs1554676394 GRCh37: 6:152746622-152746622
GRCh38: 6:152425487-152425487
17 SYNE1 NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter) SNV Pathogenic 436909 rs1203553546 GRCh37: 6:152809557-152809557
GRCh38: 6:152488422-152488422
18 SYNE1 NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs) Duplication Pathogenic 436905 rs1554553667 GRCh37: 6:152527320-152527321
GRCh38: 6:152206185-152206186
19 SYNE1 NM_182961.4(SYNE1):c.480_481CT[1] (p.Ser160_Ser161insTer) Microsatellite Pathogenic 436910 rs1554829141 GRCh37: 6:152831426-152831427
GRCh38: 6:152510291-152510292
20 SYNE1 NM_182961.4(SYNE1):c.16390-2A>C SNV Pathogenic 465779 rs759460806 GRCh37: 6:152639400-152639400
GRCh38: 6:152318265-152318265
21 SYNE1 NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) Deletion Pathogenic 465780 rs1554721227 GRCh37: 6:152770672-152770673
GRCh38: 6:152449537-152449538
22 SYNE1 NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter) SNV Pathogenic 520413 rs1554226673 GRCh37: 6:152542106-152542106
GRCh38: 6:152220971-152220971
23 SYNE1 NM_182961.4(SYNE1):c.1369del (p.Asp457fs) Deletion Pathogenic 522811 rs1554768245 GRCh37: 6:152793530-152793530
GRCh38: 6:152472395-152472395
24 SYNE1 NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) SNV Pathogenic 571581 rs746328978 GRCh37: 6:152629755-152629755
GRCh38: 6:152308620-152308620
25 SYNE1 NM_182961.4(SYNE1):c.20970del (p.Asp6991fs) Deletion Pathogenic 549688 rs1554247806 GRCh37: 6:152552595-152552595
GRCh38: 6:152231460-152231460
26 SYNE1 NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) Deletion Pathogenic 282324 rs886042380 GRCh37: 6:152655353-152655353
GRCh38: 6:152334218-152334218
27 SYNE1 NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) SNV Pathogenic 634538 rs1563941569 GRCh37: 6:152748830-152748830
GRCh38: 6:152427695-152427695
28 SYNE1 NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter) SNV Pathogenic 635784 rs1269308421 GRCh37: 6:152542097-152542097
GRCh38: 6:152220962-152220962
29 SYNE1 NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) SNV Pathogenic 449831 rs763325410 GRCh37: 6:152551729-152551729
GRCh38: 6:152230594-152230594
30 SYNE1 NM_182961.4(SYNE1):c.1217_1218CT[1] (p.Leu407fs) Microsatellite Pathogenic 568019 rs1564367104 GRCh37: 6:152804350-152804351
GRCh38: 6:152483215-152483216
31 SYNE1 NM_182961.4(SYNE1):c.15918-12A>G SNV Pathogenic 2326 rs606231134 GRCh37: 6:152643033-152643033
GRCh38: 6:152321898-152321898
32 SYNE1 NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) SNV Pathogenic 650439 rs1586296730 GRCh37: 6:152473185-152473185
GRCh38: 6:152152050-152152050
33 SYNE1 NM_182961.4(SYNE1):c.18012+1G>T SNV Pathogenic 634534 rs1562842409 GRCh37: 6:152614722-152614722
GRCh38: 6:152293587-152293587
34 SYNE1 NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) SNV Pathogenic 634536 rs1564136499 GRCh37: 6:152774725-152774725
GRCh38: 6:152453590-152453590
35 SYNE1 NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) SNV Pathogenic 379571 rs910956017 GRCh37: 6:152590313-152590313
GRCh38: 6:152269178-152269178
36 SYNE1 NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) SNV Pathogenic 662396 rs757744079 GRCh37: 6:152751793-152751793
GRCh38: 6:152430658-152430658
37 SYNE1 NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) SNV Pathogenic 650230 rs1466752822 GRCh37: 6:152831358-152831358
GRCh38: 6:152510223-152510223
38 SYNE1 NM_182961.4(SYNE1):c.4975_4976+8del Deletion Pathogenic 655334 rs1592490234 GRCh37: 6:152749332-152749341
GRCh38: 6:152428197-152428206
39 SYNE1 NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) SNV Pathogenic 691949 rs780451185 GRCh37: 6:152557375-152557375
GRCh38: 6:152236240-152236240
40 SYNE1 NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter) SNV Pathogenic 843446 GRCh37: 6:152621810-152621810
GRCh38: 6:152300675-152300675
41 SYNE1 NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter) SNV Pathogenic 863071 GRCh37: 6:152779924-152779924
GRCh38: 6:152458789-152458789
42 SYNE1 NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) SNV Pathogenic 242515 rs780451185 GRCh37: 6:152557375-152557375
GRCh38: 6:152236240-152236240
43 SYNE1 NM_182961.4(SYNE1):c.12247C>T (p.Gln4083Ter) SNV Pathogenic 807507 rs1590463470 GRCh37: 6:152660480-152660480
GRCh38: 6:152339345-152339345
44 SYNE1 NM_182961.4(SYNE1):c.4908C>A (p.Tyr1636Ter) SNV Pathogenic 807697 rs771955377 GRCh37: 6:152749408-152749408
GRCh38: 6:152428273-152428273
45 SYNE1 NM_182961.4(SYNE1):c.6226G>T (p.Glu2076Ter) SNV Pathogenic 917530 GRCh37: 6:152734491-152734491
GRCh38: 6:152413356-152413356
46 SYNE1 NM_182961.4(SYNE1):c.13948C>T (p.Arg4650Ter) SNV Pathogenic 930343 GRCh37: 6:152651872-152651872
GRCh38: 6:152330737-152330737
47 SYNE1 NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) SNV Pathogenic 377101 rs1057520134 GRCh37: 6:152560836-152560836
GRCh38: 6:152239701-152239701
48 SYNE1 NM_182961.4(SYNE1):c.8636del (p.Lys2879fs) Deletion Pathogenic 950432 GRCh37: 6:152706825-152706825
GRCh38: 6:152385690-152385690
49 SYNE1 NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) SNV Pathogenic 632480 rs766499430 GRCh37: 6:152558079-152558079
GRCh38: 6:152236944-152236944
50 SYNE1 NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) SNV Pathogenic 937252 GRCh37: 6:152708407-152708407
GRCh38: 6:152387272-152387272

Expression for Spinocerebellar Ataxia, Autosomal Recessive 8

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 8.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 8

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.72 SYNE2 SYNE1 SUN2 SUN1
2 11.08 SPTBN2 SLC1A6 CACNA1A AFG3L2

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 8

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

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.17 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1
2 nuclear membrane GO:0031965 9.73 SYNE3 SYNE2 SYNE1 SUN2 SUN1 EMD
3 nuclear envelope GO:0005635 9.7 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1
4 nuclear inner membrane GO:0005637 9.54 SUN2 SUN1 EMD
5 integral component of nuclear inner membrane GO:0005639 9.4 SUN2 SUN1
6 nuclear outer membrane GO:0005640 9.35 SYNE4 SYNE3 SYNE2 SYNE1 EMD
7 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.1 SYNE4 SYNE3 SYNE2 SYNE1 SUN2 SUN1

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

# Name GO ID Score Top Affiliating Genes
1 centrosome localization GO:0051642 9.43 SYNE2 SUN2 SUN1
2 nuclear envelope organization GO:0006998 9.37 SUN2 SUN1
3 nuclear migration GO:0007097 9.33 SYNE3 SYNE2 SUN2
4 nuclear migration along microfilament GO:0031022 9.32 SYNE2 SUN2
5 nuclear matrix anchoring at nuclear membrane GO:0090292 9.13 SYNE1 SUN2 SUN1
6 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 8.8 SYNE2 SUN2 SUN1

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.46 SYNE2 SYNE1 SPTBN2 EMD
2 protein membrane anchor GO:0043495 8.96 SUN2 SUN1
3 lamin binding GO:0005521 8.8 SYNE1 SUN2 SUN1

Sources for Spinocerebellar Ataxia, Autosomal Recessive 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
Content
Loading form....