SCAR14
MCID: SPN261
MIFTS: 44

Spinocerebellar Ataxia, Autosomal Recessive 14 (SCAR14)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive 14

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 14:

Name: Spinocerebellar Ataxia, Autosomal Recessive 14 57 71
Autosomal Recessive Spinocerebellar Ataxia 14 11 28 5 14
Sparca1 57 58 73
Scar14 57 58 73
Ataxie Spinocerebelleuse a Debut Infantile Avec Retard Psychomoteur 58
Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome 58
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 58
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1 57
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1 73
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 58
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14 38
Autosomal Recessive Spinocerebellar Ataxia Type 14 58
Spinocerebellar Ataxia, Autosomal Recessive, 14 73
Sparca 58

Characteristics:


Inheritance:

Spinocerebellar Ataxia, Autosomal Recessive 14: Autosomal recessive 57
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia: Autosomal recessive 58

Prevelance:

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia: <1/1000000 (Worldwide) 58

Age Of Onset:

Spectrin-Associated Autosomal Recessive Cerebellar Ataxia: Infancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
onset in infancy
slowly progressive
two unrelated families have been reported (last curated august 2013)


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive 14

UniProtKB/Swiss-Prot: 73 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. SCAR14 is characterized by delayed psychomotor development, severe early onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability.

MalaCards based summary: Spinocerebellar Ataxia, Autosomal Recessive 14, also known as autosomal recessive spinocerebellar ataxia 14, is related to aceruloplasminemia and spinocerebellar ataxia, autosomal recessive 8, and has symptoms including action tremor, dysdiadochokinesis and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 14 is SPTBN2 (Spectrin Beta, Non-Erythrocytic 2), and among its related pathways/superpathways is Mitochondrial calcium ion transport. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are progressive cerebellar ataxia and hyperreflexia

Orphanet: 58 Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

Disease Ontology: 11 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has material basis in homozygous mutation in the SPTBN2 gene on chromosome 11q13.

OMIM®: 57 Autosomal recessive spinocerebellar ataxia-14 (SCAR14) is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and impaired intellectual development (summary by Lise et al., 2012). (615386) (Updated 24-Oct-2022)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive 14

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 27 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 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, Autosomal Recessive 29
Spinocerebellar Ataxia, Autosomal Recessive 30 Spinocerebellar Ataxia, Autosomal Recessive 31
Spinocerebellar Ataxia 49 Spinocerebellar Ataxia, Autosomal Recessive 32
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia

Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 aceruloplasminemia 28.9 SYNE1 SPTBN2 COQ8A CACNA1A AFG3L2
2 spinocerebellar ataxia, autosomal recessive 8 28.6 SYNE1 SPTBN2 SPG7 SACS COQ8A CACNA1A
3 autosomal recessive cerebellar ataxia 28.6 SYNE1 SPTBN2 SPG7 SACS COQ8A CACNA1A
4 autosomal dominant cerebellar ataxia 28.3 SYNE1 SPTBN2 SPG7 SACS ELOVL4 CACNA1A
5 hereditary ataxia 27.8 SYNE1 SPTBN2 SPG7 SACS COQ8A CACNA1A
6 cerebellar ataxia type 43 10.2 SPTBN2 AFG3L2
7 spinocerebellar ataxia 5 10.2
8 coenzyme q10 deficiency disease 10.2 SACS COQ8A
9 spastic paraplegia 41, autosomal dominant 10.2 SPTBN2 ELOVL4
10 ataxia with vitamin e deficiency 10.1 SACS COQ8A
11 spinocerebellar ataxia, x-linked 1 10.1 SPTBN2 AFG3L2
12 episodic ataxia, type 6 10.1 SPTBN2 CACNA1A
13 spastic paraplegia 8, autosomal dominant 10.1 SPTBN2 SPG7
14 spinocerebellar ataxia 18 10.1 CACNA1A AFG3L2
15 spastic ataxia 5 10.1 SPG7 AFG3L2
16 intellectual developmental disorder, x-linked, syndromic, billuart type 10.1 COQ8A CACNA1A
17 marinesco-sjogren syndrome 10.1 SPTBN2 SACS COQ8A
18 mitochondrial complex iii deficiency, nuclear type 2 10.0 SPG7 SACS
19 olivopontocerebellar atrophy 10.0 SPTBN2 CACNA1A
20 spinocerebellar ataxia 15 10.0 SPTBN2 SACS AFG3L2
21 codas syndrome 10.0 SPG7 AFG3L2
22 behr syndrome 10.0 SPG7 AFG3L2
23 spinocerebellar ataxia 6 10.0 SPTBN2 CACNA1A
24 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.0 SACS CACNA1A
25 episodic ataxia, type 2 10.0 SPTBN2 CACNA1A
26 spinocerebellar ataxia 28 10.0 SPG7 AFG3L2
27 46,xy sex reversal 6 10.0 ELOVL4 ATP1A3
28 optic atrophy 9 10.0 SPTBN2 SPG7 AFG3L2
29 cerebellar ataxia type 48 9.9 SPTBN2 CACNA1A AFG3L2
30 spinocerebellar ataxia, autosomal recessive 17 9.9 SPTBN2 CACNA1A AFG3L2
31 optic atrophy 10 with or without ataxia, mental retardation, and seizures 9.9 SPTBN2 SPG7 AFG3L2
32 alacrima, achalasia, and mental retardation syndrome 9.9
33 hypotonia 9.9
34 tremor 9.9
35 dentatorubral-pallidoluysian atrophy 9.9 SPTBN2 CACNA1A AFG3L2
36 hemidystonia 9.9 CACNA1A ATP1A3
37 spastic paraplegia 7, autosomal recessive 9.9 SPG7 SACS AFG3L2
38 episodic ataxia, type 8 9.9 CACNA1A ATP1A3
39 spasticity 9.9 SPG7 SACS AFG3L2
40 perrault syndrome 9.9 SPG7 DARS2 AFG3L2
41 migraine, familial hemiplegic, 2 9.9 CACNA1A ATP1A3
42 spinocerebellar ataxia 38 9.9 SACS ELOVL4 CACNA1A
43 progressive myoclonus epilepsy 9.9 SACS CACNA1A AFG3L2
44 migraine, familial hemiplegic, 3 9.9 CACNA1A ATP1A3
45 leber hereditary optic neuropathy, modifier of 9.9 SPG7 DARS2 AFG3L2
46 quadriplegia 9.9 ELOVL4 ATP1A3
47 focal dystonia 9.8 CACNA1A ATP1A3
48 familial hemiplegic migraine 9.8 CACNA1A ATP1A3
49 spastic paraparesis 9.8 SPG7 CACNA1A AFG3L2
50 ocular motility disease 9.8 SPG7 CACNA1A AFG3L2

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive 14:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive 14

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive 14

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 14:

58 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive cerebellar ataxia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002073
2 hyperreflexia 58 30 Occasional (7.5%) Frequent (79-30%)
HP:0001347
3 dysarthria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001260
4 global developmental delay 58 30 Frequent (33%) Frequent (79-30%)
HP:0001263
5 delayed speech and language development 58 30 Frequent (33%) Frequent (79-30%)
HP:0000750
6 intellectual disability, mild 58 30 Frequent (33%) Frequent (79-30%)
HP:0001256
7 slurred speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0001350
8 dysmetria 58 30 Frequent (33%) Frequent (79-30%)
HP:0001310
9 dysdiadochokinesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002075
10 cerebellar atrophy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001272
11 progressive gait ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0007240
12 truncal ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002078
13 spasticity 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001257
14 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
15 diplopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000651
16 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
17 intention tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002080
18 horizontal nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000666
19 jerky ocular pursuit movements 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008003
20 dysmetric saccades 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000641
21 hypometric saccades 30 Occasional (7.5%) HP:0000571
22 cognitive impairment 30 HP:0100543
23 gait ataxia 30 HP:0002066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neurologic Central Nervous System:
dysmetria
dysdiadochokinesis
gait ataxia
cerebellar atrophy
intention tremor
more
Head And Neck Eyes:
nystagmus (in some patients)
hypometric saccades (in some patients)
abnormal eye movements (in some patients)
jerky smooth pursuit (in some patients)

Clinical features from OMIM®:

615386 (Updated 24-Oct-2022)

UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 14:


action tremor; dysdiadochokinesis; gait ataxia

MGI Mouse Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 14:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.85 AFG3L2 ARSA ATP1A3 CACNA1A COQ8A ELOVL4
2 muscle MP:0005369 9.43 AFG3L2 ATP1A3 CACNA1A COQ8A SACS SYNE1
3 behavior/neurological MP:0005386 9.32 AFG3L2 ARSA ATP1A3 CACNA1A COQ8A ELOVL4

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive 14

Search Clinical Trials, NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 14

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive 14

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive 14:

# Genetic test Affiliating Genes
1 Autosomal Recessive Spinocerebellar Ataxia 14 28 SPTBN2

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive 14

Organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 14:

MalaCards : Eye, Spinal Cord, Cerebellum, Brain

Publications for Spinocerebellar Ataxia, Autosomal Recessive 14

Articles related to Spinocerebellar Ataxia, Autosomal Recessive 14:

(show all 14)
# Title Authors PMID Year
1
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. 62 57 5
23236289 2012
2
A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature. 57 5
29196973 2018
3
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. 57 5
23838597 2014
4
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation. 57
22781464 2012
5
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. 62
33801522 2021
6
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia. 62
31617442 2020
7
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. 62
31066025 2019
8
Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al. 62
29795473 2018
9
Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype. 62
29795474 2018
10
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 62
28636205 2017
11
βIII Spectrin Is Necessary for Formation of the Constricted Neck of Dendritic Spines and Regulation of Synaptic Activity in Neurons. 62
28576936 2017
12
Posterior cerebellar Purkinje cells in an SCA5/SPARCA1 mouse model are especially vulnerable to the synergistic effect of loss of β-III spectrin and GLAST. 62
28173092 2016
13
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. 62
26821241 2016
14
β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations. 62
24603075 2014

Variations for Spinocerebellar Ataxia, Autosomal Recessive 14

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 14:

5 (show all 43)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPTBN2 NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys) SNV Pathogenic
1048078 rs1318256630 GRCh37: 11:66475722-66475722
GRCh38: 11:66708251-66708251
2 SPTBN2 NM_006946.4(SPTBN2):c.157+1G>A SNV Pathogenic
1027424 GRCh37: 11:66488554-66488554
GRCh38: 11:66721083-66721083
3 SPTBN2 NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter) SNV Pathogenic
64367 rs146859515 GRCh37: 11:66472866-66472866
GRCh38: 11:66705395-66705395
4 SPTBN2 NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs) DEL Pathogenic
64369 rs373728971 GRCh37: 11:66468702-66468706
GRCh38: 11:66701231-66701235
5 SPTBN2 NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) SNV Likely Pathogenic
619974 rs145522851 GRCh37: 11:66453406-66453406
GRCh38: 11:66685935-66685935
6 SPTBN2 NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) SNV Likely Pathogenic
1034341 rs1940755126 GRCh37: 11:66461617-66461617
GRCh38: 11:66694146-66694146
7 SPTBN2 NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp) SNV Likely Pathogenic
1027425 GRCh37: 11:66472904-66472904
GRCh38: 11:66705433-66705433
8 SPTBN2 NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr) SNV Uncertain Significance
1285500 GRCh37: 11:66457709-66457709
GRCh38: 11:66690238-66690238
9 SPTBN2 NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) SNV Uncertain Significance
1329497 GRCh37: 11:66472852-66472852
GRCh38: 11:66705381-66705381
10 SPTBN2 NM_006946.4(SPTBN2):c.6723-11G>A SNV Uncertain Significance
305530 rs758435668 GRCh37: 11:66454649-66454649
GRCh38: 11:66687178-66687178
11 SPTBN2 NM_006946.4(SPTBN2):c.6035-12C>T SNV Uncertain Significance
877425 rs2276137 GRCh37: 11:66456332-66456332
GRCh38: 11:66688861-66688861
12 SPTBN2 NM_006946.4(SPTBN2):c.6897-4A>G SNV Uncertain Significance
878939 rs1262014282 GRCh37: 11:66453915-66453915
GRCh38: 11:66686444-66686444
13 SPTBN2 NM_006946.4(SPTBN2):c.6502-9C>T SNV Uncertain Significance
878989 rs545190212 GRCh37: 11:66455127-66455127
GRCh38: 11:66687656-66687656
14 SPTBN2 NM_006946.4(SPTBN2):c.6374+15G>A SNV Uncertain Significance
305536 rs777633339 GRCh37: 11:66455625-66455625
GRCh38: 11:66688154-66688154
15 SPTBN2 NM_006946.4(SPTBN2):c.657-7C>G SNV Uncertain Significance
305596 rs758925003 GRCh37: 11:66481224-66481224
GRCh38: 11:66713753-66713753
16 SPTBN2 NM_006946.4(SPTBN2):c.-22-10C>A SNV Uncertain Significance
305605 rs200435327 GRCh37: 11:66488743-66488743
GRCh38: 11:66721272-66721272
17 SPTBN2 NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) SNV Uncertain Significance
1342596 GRCh37: 11:66460141-66460141
GRCh38: 11:66692670-66692670
18 SPTBN2 NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro) SNV Uncertain Significance
1687362 GRCh37: 11:66475270-66475270
GRCh38: 11:66707799-66707799
19 SPTBN2 NM_006946.4(SPTBN2):c.4985+12G>A SNV Uncertain Significance
305551 rs199692345 GRCh37: 11:66460429-66460429
GRCh38: 11:66692958-66692958
20 SPTBN2 NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) SNV Uncertain Significance
305538 rs764407421 GRCh37: 11:66455772-66455772
GRCh38: 11:66688301-66688301
21 SPTBN2 NM_006946.4(SPTBN2):c.157+5G>A SNV Uncertain Significance
195271 rs150159444 GRCh37: 11:66488550-66488550
GRCh38: 11:66721079-66721079
22 SPTBN2 NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) SNV Uncertain Significance
502387 rs148065361 GRCh37: 11:66466530-66466530
GRCh38: 11:66699059-66699059
23 SPTBN2 NM_006946.4(SPTBN2):c.5950-9C>T SNV Uncertain Significance
305541 rs554781314 GRCh37: 11:66456660-66456660
GRCh38: 11:66689189-66689189
24 SPTBN2 NM_006946.4(SPTBN2):c.1654-13G>A SNV Uncertain Significance
305584 rs200980512 GRCh37: 11:66473321-66473321
GRCh38: 11:66705850-66705850
25 SPTBN2 NM_006946.4(SPTBN2):c.1653+13C>T SNV Uncertain Significance
436855 rs376349935 GRCh37: 11:66474974-66474974
GRCh38: 11:66707503-66707503
26 SPTBN2 NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) SNV Uncertain Significance
1029116 rs750623875 GRCh37: 11:66454559-66454559
GRCh38: 11:66687088-66687088
27 SPTBN2 NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) SNV Uncertain Significance
448497 rs141683210 GRCh37: 11:66466931-66466931
GRCh38: 11:66699460-66699460
28 SPTBN2 NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) SNV Uncertain Significance
448526 rs147766428 GRCh37: 11:66488620-66488620
GRCh38: 11:66721149-66721149
29 SPTBN2 NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) SNV Uncertain Significance
305572 rs145702618 GRCh37: 11:66469188-66469188
GRCh38: 11:66701717-66701717
30 SPTBN2 NM_006946.4(SPTBN2):c.1351-7G>A SNV Likely Benign
Benign
305588 rs116078747 GRCh37: 11:66475296-66475296
GRCh38: 11:66707825-66707825
31 SPTBN2 NM_006946.4(SPTBN2):c.6896+11G>A SNV Likely Benign
305525 rs141969559 GRCh37: 11:66454454-66454454
GRCh38: 11:66686983-66686983
32 SPTBN2 NM_006946.4(SPTBN2):c.5950-8G>A SNV Likely Benign
305540 rs201759431 GRCh37: 11:66456659-66456659
GRCh38: 11:66689188-66689188
33 SPTBN2 NM_006946.4(SPTBN2):c.1807+13C>T SNV Likely Benign
305581 rs151122248 GRCh37: 11:66473142-66473142
GRCh38: 11:66705671-66705671
34 SPTBN2 NM_006946.4(SPTBN2):c.6723-14C>T SNV Benign
877376 rs186232313 GRCh37: 11:66454652-66454652
GRCh38: 11:66687181-66687181
35 SPTBN2 NM_006946.4(SPTBN2):c.4985+11C>T SNV Benign
305552 rs11227572 GRCh37: 11:66460430-66460430
GRCh38: 11:66692959-66692959
36 SPTBN2 NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly) SNV Benign
285565 rs4930388 GRCh37: 11:66472274-66472274
GRCh38: 11:66704803-66704803
37 SPTBN2 NM_006946.4(SPTBN2):c.885+5T>C SNV Benign
305595 rs114331192 GRCh37: 11:66478383-66478383
GRCh38: 11:66710912-66710912
38 SPTBN2 NM_006946.4(SPTBN2):c.4279-8G>A SNV Benign
305557 rs369614446 GRCh37: 11:66461842-66461842
GRCh38: 11:66694371-66694371
39 SPTBN2 NM_006946.4(SPTBN2):c.657-47G>A SNV Benign
1276711 GRCh37: 11:66481264-66481264
GRCh38: 11:66713793-66713793
40 SPTBN2 NM_006946.4(SPTBN2):c.309+36T>C SNV Benign
1278200 GRCh37: 11:66483265-66483265
GRCh38: 11:66715794-66715794
41 SPTBN2 NM_006946.4(SPTBN2):c.2816+23A>G SNV Benign
1281930 GRCh37: 11:66469032-66469032
GRCh38: 11:66701561-66701561
42 SPTBN2 NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) SNV Not Provided
585098 rs201852582 GRCh37: 11:66466195-66466195
GRCh38: 11:66698724-66698724
43 SPTBN2 NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys) SNV Not Provided
585097 rs200529832 GRCh37: 11:66456246-66456246
GRCh38: 11:66688775-66688775

Expression for Spinocerebellar Ataxia, Autosomal Recessive 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 14.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive 14

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.21 SPG7 AFG3L2

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive 14

Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.91 SYNE1 SPG7 ELOVL4 COQ8A CACNA1A ATP1A3
2 membrane GO:0016021 9.91 SYNE1 SPG7 ELOVL4 COQ8A CACNA1A ATP1A3
3 m-AAA complex GO:0005745 8.92 SPG7 AFG3L2

Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial protein processing GO:0034982 8.92 SPG7 AFG3L2

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent peptidase activity GO:0004176 8.92 SPG7 AFG3L2

Sources for Spinocerebellar Ataxia, Autosomal Recessive 14

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....