Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Application of whole exome sequencing in undiagnosed inherited polyneuropathies. 24604904

2014
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. 24473461

2014
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. 23483706

2013
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. 20718791

2011
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. 21336785

2011
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia. 20932283

2010
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Characterization of a novel SPG3A deletion in a French-Canadian family. 17427918

2007
dbSNP: rs28939094
rs28939094
ATL1
G 0.800 GeneticVariation CLINVAR Hereditary spastic paraplegia 3A associated with axonal neuropathy. 17502470

2007
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. 17321752

2007
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. 16533974

2006
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. 14695538

2004
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. 15184642

2004
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. 12939451

2003
dbSNP: rs28939094
rs28939094
ATL1
G 0.800 GeneticVariation CLINVAR Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. 12939451

2003
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. 12112092

2002
dbSNP: rs28939094
rs28939094
ATL1
0.800 GeneticVariation UNIPROT Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. 11685207

2001
dbSNP: rs28939094
rs28939094
ATL1
G 0.800 CausalMutation CLINVAR