SPG8
MCID: SPS013
MIFTS: 30

Spastic Paraplegia 8 (SPG8)

Categories: Bone diseases, Ear diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Spastic Paraplegia 8

MalaCards integrated aliases for Spastic Paraplegia 8:

Name: Spastic Paraplegia 8 25 20 43 6
Spg8 25 20
Spastic Paraplegia 8, Autosomal Dominant 70
Autosomal Dominant Spastic Paraplegia 8 43
Hereditary Spastic Paraplegia 8 43
Spastic Paraplegia Type 8 43
Spg 8 43

Characteristics:

GeneReviews:

25
Penetrance The penetrance for spg8 is estimated between 90% and 100% [valdmanis et al 2007].

Classifications:



External Ids:

UMLS 70 C1863704

Summaries for Spastic Paraplegia 8

MedlinePlus Genetics : 43 Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the nerves and muscles controlling the lower limbs and bladder, whereas the complex types also have significant involvement of the nervous system in other parts of the body. Spastic paraplegia type 8 is a pure hereditary spastic paraplegia.Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The signs and symptoms of spastic paraplegia type 8 usually appear in early to mid-adulthood. As the muscle weakness and spasticity get worse, some people may need the aid of a cane, walker, or wheelchair.

MalaCards based summary : Spastic Paraplegia 8, also known as spg8, is related to ritscher-schinzel syndrome 1 and ritscher-schinzel syndrome, and has symptoms including urgency of micturition An important gene associated with Spastic Paraplegia 8 is WASHC5 (WASH Complex Subunit 5), and among its related pathways/superpathways are NOD-like receptor signaling pathway and PKMTs methylate histone lysines. Affiliated tissues include eye and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100989 Definition A pure or complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity resulting in gait disturbances, hyperreflexia and extensor plantar responses, that may be associated with complicating signs, such as upper limb involvement, sensory neuropathy, ataxia (i.e. mild dysmetria, uncoordinated eye movement) and mild dysphagia. Additional symptoms, including urinary urgency and/or incontinence, muscle weakness, decreased vibration sense and mild muscular atrophy in lower extremities, may also be associated.

GeneReviews: NBK1827

Related Diseases for Spastic Paraplegia 8

Diseases in the Spastic Paraplegia 3a family:

Spastic Paraplegia 3, Autosomal Dominant Spastic Paraplegia 4, Autosomal Dominant
Spastic Paraplegia 17, Autosomal Dominant Spastic Paraplegia 15, Autosomal Recessive
Spastic Paraplegia 23, Autosomal Recessive Spastic Paraplegia 5a, Autosomal Recessive
Spastic Paraplegia 20, Autosomal Recessive Spastic Paraplegia 6, Autosomal Dominant
Spastic Paraplegia 9a, Autosomal Dominant Spastic Paraplegia 8, Autosomal Dominant
Spastic Paraplegia 10, Autosomal Dominant Spastic Paraplegia 11, Autosomal Recessive
Spastic Paraplegia 12, Autosomal Dominant Spastic Paraplegia 14, Autosomal Recessive
Spastic Paraplegia 13, Autosomal Dominant Spastic Paraplegia 19, Autosomal Dominant
Spastic Paraplegia 7, Autosomal Recessive Spastic Paraplegia 24, Autosomal Recessive
Spastic Paraplegia 25, Autosomal Recessive Spastic Paraplegia 27, Autosomal Recessive
Spastic Paraplegia 26, Autosomal Recessive Spastic Paraplegia 28, Autosomal Recessive
Spastic Paraplegia 29, Autosomal Dominant Spastic Paraplegia 33, Autosomal Dominant
Spastic Paraplegia 31, Autosomal Dominant Spastic Paraplegia 30, Autosomal Dominant
Spastic Paraplegia 18, Autosomal Recessive Spastic Paraplegia 32, Autosomal Recessive
Spastic Paraplegia 37, Autosomal Dominant Spastic Paraplegia 39, Autosomal Recessive
Spastic Paraplegia 35, Autosomal Recessive Spastic Paraplegia 38, Autosomal Dominant
Spastic Paraplegia 42, Autosomal Dominant Spastic Paraplegia 50, Autosomal Recessive
Spastic Paraplegia 36, Autosomal Dominant Spastic Paraplegia 45, Autosomal Recessive
Spastic Paraplegia 44, Autosomal Recessive Spastic Paraplegia 41, Autosomal Dominant
Spastic Paraplegia 48, Autosomal Recessive Spastic Paraplegia 51, Autosomal Recessive
Spastic Paraplegia 47, Autosomal Recessive Spastic Paraplegia 52, Autosomal Recessive
Spastic Paraplegia 46, Autosomal Recessive Spastic Paraplegia 53, Autosomal Recessive
Spastic Paraplegia 56, Autosomal Recessive Spastic Paraplegia 49, Autosomal Recessive
Spastic Paraplegia 54, Autosomal Recessive Spastic Paraplegia 55, Autosomal Recessive
Spastic Paraplegia 43, Autosomal Recessive Spastic Paraplegia 79, Autosomal Recessive
Spastic Paraplegia 72, Autosomal Recessive Spastic Paraplegia 57, Autosomal Recessive
Spastic Paraplegia 62, Autosomal Recessive Spastic Paraplegia 64, Autosomal Recessive
Spastic Paraplegia 61, Autosomal Recessive Spastic Paraplegia 63, Autosomal Recessive
Spastic Paraplegia 73, Autosomal Dominant Spastic Paraplegia 74, Autosomal Recessive
Spastic Paraplegia 9b, Autosomal Recessive Spastic Paraplegia 75, Autosomal Recessive
Spastic Paraplegia 76, Autosomal Recessive Spastic Paraplegia 77, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive Spastic Paraplegia 80, Autosomal Dominant
Spastic Paraplegia 81, Autosomal Recessive Spastic Paraplegia 82, Autosomal Recessive
Spastic Paraplegia 83, Autosomal Recessive Hereditary Spastic Paraplegia 23
Hereditary Spastic Paraplegia 30 Hereditary Spastic Paraplegia 51
Hereditary Spastic Paraplegia 72 Hereditary Spastic Paraplegia
Spastic Paraplegia 4 Spastic Paraplegia 8
Spastic Paraplegia 11 Spastic Paraplegia 10
Spastic Paraplegia 12 Spastic Paraplegia 13
Spastic Paraplegia 14 Spastic Paraplegia 15
Spastic Paraplegia 16 Spastic Paraplegia 17
Spastic Paraplegia 18 Spastic Paraplegia 19
Spastic Paraplegia 24 Spastic Paraplegia 25
Spastic Paraplegia 26 Spastic Paraplegia 29
Spastic Paraplegia 3 Spastic Paraplegia 32
Spastic Paraplegia 39 Spastic Paraplegia 47
Spastic Paraplegia 5a Spastic Paraplegia 5b
Spastic Paraplegia 6 Spastic Paraplegia 9
Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia Type 60
Autosomal Recessive Spastic Paraplegia Type 59 Autosomal Recessive Spastic Paraplegia Type 69
Autosomal Recessive Spastic Paraplegia Type 70 Autosomal Recessive Spastic Paraplegia Type 71
Autosomal Recessive Spastic Paraplegia Type 66 Autosomal Recessive Spastic Paraplegia Type 67
Autosomal Dominant Spastic Paraplegia Type 9b

Diseases related to Spastic Paraplegia 8 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 29.9 WASHC5-AS1 WASHC5
2 ritscher-schinzel syndrome 29.6 WASHC5-AS1 WASHC5
3 hereditary spastic paraplegia 27.9 WASHC5-AS1 WASHC5 TBK1 SETBP1 NSD1 DNM1L
4 spastic paraplegia 8, autosomal dominant 11.8
5 paraplegia 10.1
6 spastic paraplegia 4, autosomal dominant 10.0
7 spastic paraplegia 4 10.0
8 urinary tract infection 10.0
9 spasticity 10.0
10 spastic paraplegia 3, autosomal dominant 9.9
11 wiskott-aldrich syndrome 9.9
12 ataxia and polyneuropathy, adult-onset 9.9
13 spastic paraplegia 6, autosomal dominant 9.9
14 spastic paraplegia 31, autosomal dominant 9.9
15 dystonia 9.9
16 spastic paraplegia 3a 9.9
17 spastic paraparesis 9.9
18 spastic paraplegia 6 9.9
19 pure hereditary spastic paraplegia 9.9
20 childhood acute myeloid leukemia 9.5 SETBP1 NSD1
21 disease of mental health 8.8 TBK1 SETBP1 NSD1 DNM1L

Graphical network of the top 20 diseases related to Spastic Paraplegia 8:



Diseases related to Spastic Paraplegia 8

Symptoms & Phenotypes for Spastic Paraplegia 8

UMLS symptoms related to Spastic Paraplegia 8:


urgency of micturition

GenomeRNAi Phenotypes related to Spastic Paraplegia 8 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.44 DNM1L
2 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.44 DNM1L
3 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.44 DNM1L
4 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.44 SETBP1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.44 DNM1L
6 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.44 SETBP1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.44 SETBP1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.44 SETBP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.44 SETBP1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.44 SETBP1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.44 DNM1L
12 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.44 SETBP1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.44 SETBP1

Drugs & Therapeutics for Spastic Paraplegia 8

Search Clinical Trials , NIH Clinical Center for Spastic Paraplegia 8

Genetic Tests for Spastic Paraplegia 8

Anatomical Context for Spastic Paraplegia 8

MalaCards organs/tissues related to Spastic Paraplegia 8:

40
Eye, Spinal Cord

Publications for Spastic Paraplegia 8

Articles related to Spastic Paraplegia 8:

(show all 45)
# Title Authors PMID Year
1
Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. 25 6 61
23455931 2013
2
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. 61 25 6
17160902 2007
3
Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases. 6 25
20833645 2010
4
A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. 6 61
24824269 2014
5
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. 25 61
30778698 2019
6
Expression of N471D strumpellin leads to defects in the endolysosomal system. 61 25
30061306 2018
7
A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report. 61 25
29768361 2018
8
Clinical and genetic study of hereditary spastic paraplegia in Canada. 61 25
27957547 2017
9
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. 25 61
26572744 2015
10
A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. 6
24065355 2013
11
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. 61 25
23881105 2013
12
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. 61 25
10797436 2000
13
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. 61 25
10563637 1999
14
Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study. 25
30508408 2021
15
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis. 25
29661209 2018
16
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
17
Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegia. 25
28389476 2017
18
Timing, rates and spectra of human germline mutation. 25
26656846 2016
19
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. 25
24451228 2014
20
The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. 25
23085491 2013
21
Evolutionary conservation of the WASH complex, an actin polymerization machine involved in endosomal fission. 25
20714399 2010
22
The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis. 25
20376207 2010
23
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 25
20050888 2010
24
Hereditary spastic paraplegias: an update. 25
17992088 2007
25
The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland. 25
11784824 2002
26
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. 25
9973294 1999
27
Spasticity: a review. 25
7970006 1994
28
Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes. 61
33576112 2021
29
Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8. 61
33662919 2021
30
Characterization of the first tetrameric transcription factor of the GntR superfamily with allosteric regulation from the bacterial pathogen Agrobacterium fabrum. 61
33313837 2021
31
SPG8 mutations in Italian families: clinical data and literature review. 61
31814071 2020
32
Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion. 61
31911435 2020
33
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. 61
26967522 2016
34
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8. 61
25454649 2014
35
[Japan Spastic Paraplegia Research Consortium (JASPAC)]. 61
25296875 2014
36
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. 61
24931836 2014
37
[Hereditary spastic paraplegia: up to date]. 61
25519960 2014
38
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. 61
23897027 2013
39
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 61
22554690 2012
40
[Hereditary spastic paraplegia in Japan]. 61
22277506 2011
41
[Japan spastic paraplegia research consortium (JASPAC)]. 61
21921516 2010
42
Spastic Paraplegia 8 61
20301727 2008
43
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia. 61
18364116 2008
44
High-resolution aCGH and expression profiling identifies a novel genomic subtype of ER negative breast cancer. 61
17925008 2007
45
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia. 61
16143870 2005

Variations for Spastic Paraplegia 8

ClinVar genetic disease variations for Spastic Paraplegia 8:

6 (show top 50) (show all 183)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WASHC5 NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) SNV Pathogenic 1161 rs80338867 GRCh37: 8:126069059-126069059
GRCh38: 8:125056817-125056817
2 WASHC5 NM_014846.4(WASHC5):c.1857G>C (p.Leu619Phe) SNV Pathogenic 1162 rs80338866 GRCh37: 8:126069816-126069816
GRCh38: 8:125057574-125057574
3 WASHC5 NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) SNV Pathogenic 1163 rs80338865 GRCh37: 8:126073434-126073434
GRCh38: 8:125061192-125061192
4 WASHC5 NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe) SNV Pathogenic 39008 rs80338866 GRCh37: 8:126069816-126069816
GRCh38: 8:125057574-125057574
5 WASHC5 NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala) SNV Pathogenic 65713 rs397515564 GRCh37: 8:126067843-126067843
GRCh38: 8:125055601-125055601
6 WASHC5 NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe) SNV Pathogenic 1161 rs80338867 GRCh37: 8:126069059-126069059
GRCh38: 8:125056817-125056817
7 WASHC5 NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) SNV Pathogenic 463137 rs1554593901 GRCh37: 8:126069902-126069902
GRCh38: 8:125057660-125057660
8 WASHC5 NM_014846.4(WASHC5):c.3020_3021AC[2] (p.Leu1009fs) Microsatellite Pathogenic 573798 rs765926045 GRCh37: 8:126051131-126051132
GRCh38: 8:125038889-125038890
9 WASHC5 NM_014846.4(WASHC5):c.511C>T (p.Arg171Ter) SNV Pathogenic 576266 rs1462319941 GRCh37: 8:126093910-126093910
GRCh38: 8:125081668-125081668
10 WASHC5 NM_014846.4(WASHC5):c.682C>T (p.Arg228Ter) SNV Pathogenic 583269 rs754463353 GRCh37: 8:126091009-126091009
GRCh38: 8:125078767-125078767
11 WASHC5 NM_014846.4(WASHC5):c.704dup (p.Tyr235Ter) Duplication Pathogenic 570249 rs1563633906 GRCh37: 8:126090986-126090987
GRCh38: 8:125078744-125078745
12 WASHC5 NM_014846.4(WASHC5):c.526C>T (p.Arg176Ter) SNV Pathogenic 647373 rs1362286755 GRCh37: 8:126091165-126091165
GRCh38: 8:125078923-125078923
13 WASHC5 NM_014846.4(WASHC5):c.3424-1G>T SNV Likely pathogenic 1030376 GRCh37: 8:126036916-126036916
GRCh38: 8:125024674-125024674
14 WASHC5 NM_014846.4(WASHC5):c.1772C>T (p.Ser591Phe) SNV Likely pathogenic 495056 rs1554593899 GRCh37: 8:126069901-126069901
GRCh38: 8:125057659-125057659
15 WASHC5 NM_014846.4(WASHC5):c.1151-2A>G SNV Likely pathogenic 570582 rs1563627853 GRCh37: 8:126079963-126079963
GRCh38: 8:125067721-125067721
16 WASHC5 NM_014846.4(WASHC5):c.1771T>C (p.Ser591Pro) SNV Likely pathogenic 463137 rs1554593901 GRCh37: 8:126069902-126069902
GRCh38: 8:125057660-125057660
17 WASHC5 NM_014846.4(WASHC5):c.1747A>G (p.Arg583Gly) SNV Uncertain significance 573698 rs761801345 GRCh37: 8:126071481-126071481
GRCh38: 8:125059239-125059239
18 WASHC5 NM_014846.4(WASHC5):c.3047A>G (p.Tyr1016Cys) SNV Uncertain significance 583273 rs767608029 GRCh37: 8:126051109-126051109
GRCh38: 8:125038867-125038867
19 SETBP1 NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys) SNV Uncertain significance 634499 rs759235645 GRCh37: 18:42643643-42643643
GRCh38: 18:45063678-45063678
20 DNM1L NM_012062.5(DNM1L):c.251-1540C>G SNV Uncertain significance 634573 rs762401850 GRCh37: 12:32858761-32858761
GRCh38: 12:32705827-32705827
21 TBK1 NM_013254.4(TBK1):c.290T>A (p.Val97Asp) SNV Uncertain significance 634601 rs1565813507 GRCh37: 12:64858175-64858175
GRCh38: 12:64464395-64464395
22 WASHC5 NM_014846.4(WASHC5):c.2327G>A (p.Arg776His) SNV Uncertain significance 634607 rs750463169 GRCh37: 8:126061300-126061300
GRCh38: 8:125049058-125049058
23 NSD1 NM_022455.4(NSD1):c.7976C>T (p.Ala2659Val) SNV Uncertain significance 634621 rs1562312270 GRCh37: 5:176722345-176722345
GRCh38: 5:177295344-177295344
24 WASHC5 NM_014846.4(WASHC5):c.166T>C (p.Phe56Leu) SNV Uncertain significance 646014 rs751591590 GRCh37: 8:126095975-126095975
GRCh38: 8:125083733-125083733
25 WASHC5 NM_014846.4(WASHC5):c.1297T>C (p.Ser433Pro) SNV Uncertain significance 655495 rs766713240 GRCh37: 8:126075875-126075875
GRCh38: 8:125063633-125063633
26 WASHC5 NM_014846.4(WASHC5):c.3269G>A (p.Arg1090Gln) SNV Uncertain significance 659325 rs762522662 GRCh37: 8:126044549-126044549
GRCh38: 8:125032307-125032307
27 WASHC5 NM_014846.4(WASHC5):c.572G>A (p.Arg191Gln) SNV Uncertain significance 662823 rs1586384678 GRCh37: 8:126091119-126091119
GRCh38: 8:125078877-125078877
28 WASHC5 NM_014846.4(WASHC5):c.2087G>A (p.Gly696Asp) SNV Uncertain significance 578334 rs397515564 GRCh37: 8:126067843-126067843
GRCh38: 8:125055601-125055601
29 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2769C>T (p.Val923=) SNV Uncertain significance 581292 rs545318648 GRCh37: 8:126056235-126056235
GRCh38: 8:125043993-125043993
30 WASHC5 NM_014846.4(WASHC5):c.413T>G (p.Leu138Arg) SNV Uncertain significance 581704 rs1563636568 GRCh37: 8:126094629-126094629
GRCh38: 8:125082387-125082387
31 WASHC5 NM_014846.4(WASHC5):c.2003G>T (p.Gly668Val) SNV Uncertain significance 581894 rs763639768 GRCh37: 8:126068932-126068932
GRCh38: 8:125056690-125056690
32 WASHC5 NM_014846.4(WASHC5):c.2090_2092TCA[1] (p.Ile698del) Microsatellite Uncertain significance 531992 rs1554593551 GRCh37: 8:126067835-126067837
GRCh38: 8:125055593-125055595
33 WASHC5 NM_014846.4(WASHC5):c.872G>A (p.Ser291Asn) SNV Uncertain significance 531993 rs753529606 GRCh37: 8:126087346-126087346
GRCh38: 8:125075104-125075104
34 WASHC5 NM_014846.4(WASHC5):c.2971A>G (p.Ile991Val) SNV Uncertain significance 463139 rs1554591077 GRCh37: 8:126051185-126051185
GRCh38: 8:125038943-125038943
35 WASHC5 NM_014846.4(WASHC5):c.-167C>T SNV Uncertain significance 361739 rs886062657 GRCh37: 8:126103899-126103899
GRCh38: 8:125091657-125091657
36 WASHC5 NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) SNV Uncertain significance 361719 rs886062652 GRCh37: 8:126067878-126067878
GRCh38: 8:125055636-125055636
37 WASHC5 NM_014846.4(WASHC5):c.-219G>C SNV Uncertain significance 361741 rs886062658 GRCh37: 8:126103951-126103951
GRCh38: 8:125091709-125091709
38 WASHC5 NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu) SNV Uncertain significance 361724 rs886062654 GRCh37: 8:126075832-126075832
GRCh38: 8:125063590-125063590
39 WASHC5 NM_014846.4(WASHC5):c.657A>G (p.Glu219=) SNV Uncertain significance 361730 rs886062655 GRCh37: 8:126091034-126091034
GRCh38: 8:125078792-125078792
40 WASHC5 NM_014846.4(WASHC5):c.3438T>C (p.His1146=) SNV Uncertain significance 361710 rs764539889 GRCh37: 8:126036901-126036901
GRCh38: 8:125024659-125024659
41 WASHC5 NM_014846.4(WASHC5):c.*124A>C SNV Uncertain significance 361707 rs886062650 GRCh37: 8:126036735-126036735
GRCh38: 8:125024493-125024493
42 WASHC5 NM_014846.4(WASHC5):c.2954+13G>T SNV Uncertain significance 361714 rs886062651 GRCh37: 8:126052024-126052024
GRCh38: 8:125039782-125039782
43 WASHC5 NM_014846.4(WASHC5):c.-20A>G SNV Uncertain significance 361736 rs762683769 GRCh37: 8:126096160-126096160
GRCh38: 8:125083918-125083918
44 WASHC5 , WASHC5-AS1 NM_014846.4(WASHC5):c.2850+4T>C SNV Uncertain significance 361715 rs770743674 GRCh37: 8:126056063-126056063
GRCh38: 8:125043821-125043821
45 WASHC5 NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) SNV Uncertain significance 361723 rs886062653 GRCh37: 8:126075827-126075827
GRCh38: 8:125063585-125063585
46 WASHC5 NC_000008.11:g.(?_125024607)_(125044104_?)del Deletion Uncertain significance 831091 GRCh37: 8:126036849-126056346
GRCh38:
47 WASHC5 NM_014846.4(WASHC5):c.2410A>G (p.Thr804Ala) SNV Uncertain significance 862787 GRCh37: 8:126059543-126059543
GRCh38: 8:125047301-125047301
48 WASHC5 NM_014846.4(WASHC5):c.*337A>G SNV Uncertain significance 908286 GRCh37: 8:126036522-126036522
GRCh38: 8:125024280-125024280
49 WASHC5 NM_014846.4(WASHC5):c.2076G>A (p.Thr692=) SNV Uncertain significance 695725 rs746121315 GRCh37: 8:126067854-126067854
GRCh38: 8:125055612-125055612
50 WASHC5 NM_014846.4(WASHC5):c.1866T>C (p.Tyr622=) SNV Uncertain significance 700189 rs202216835 GRCh37: 8:126069807-126069807
GRCh38: 8:125057565-125057565

Expression for Spastic Paraplegia 8

Search GEO for disease gene expression data for Spastic Paraplegia 8.

Pathways for Spastic Paraplegia 8

Pathways related to Spastic Paraplegia 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.21 TBK1 DNM1L
2
Show member pathways
10.78 SETBP1 NSD1

GO Terms for Spastic Paraplegia 8

Sources for Spastic Paraplegia 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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