Gene: SPAST ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. 25315759

2014
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients. 26671083

2015
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464

2010
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. 10610178

1999
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Normal spastin gene dosage is specifically required for axon regeneration. 23122959

2012
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia. 11309678

2001
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593

2008
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegia SPG4: what is known and not known about the disease. 26094131

2015
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. 22554690

2012
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia. 17100993

2006
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients. 19453301

2009
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene. 15326248

2004
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. 25065914

2014
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. 10699187

2000
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia. 26208798

2015
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Pathogenic mutation of spastin has gain-of-function effects on microtubule dynamics. 24478365

2014
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. 23438842

2014
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. 17101632

2006
dbSNP: rs1553317028
rs1553317028
SPAST
C 0.700 GeneticVariation CLINVAR Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation. 14681884

2003
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. 25065914

2014
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia. 18190593

2008
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing. 26374131

2016
dbSNP: rs797044850
rs797044850
SPAST
G 0.700 CausalMutation CLINVAR Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. 20562464

2010