Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. 27871429

2016
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 25401298

2015
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay. 26288984

2015
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. 23497566

2013
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture. 23280630

2013
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing. 22751902

2012
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Cerebellar cognitive affective syndrome and autosomal recessive spastic ataxia of charlevoix-saguenay: a report of two male sibs. 22441213

2012
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview. 21450511

2011
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Mutations in SACS cause atypical and late-onset forms of ARSACS. 20876471

2010
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. 19208651

2009
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. 18465152

2008
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Neurophysiological study in a Spanish family with recessive spastic ataxia of Charlevoix-Saguenay. 17683082

2008
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients. 17846221

2007
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Autosomal recessive spastic ataxia of Charlevoix-Saguenay. 16961075

2006
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR A phenotype without spasticity in sacsin-related ataxia. 15985586

2005
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia. 16007637

2005
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Identification of a SACS gene missense mutation in ARSACS. 14718708

2004
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in Tunisia. 12873855

2003
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. 11788093

2001
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. 10655055

2000
dbSNP: rs1555254256
rs1555254256
SACS
T 0.700 CausalMutation CLINVAR Genetic epidemiology of autosomal recessive spastic ataxia of Charlevoix-Saguenay in northeastern Quebec. 8472930

1993