Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation BEFREE The cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is caused by the single mutation E818K of the α3-isoform of Na<sup>+</sup>,K<sup>+</sup>-ATPase. 30409907

2019
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation BEFREE We now report two new patients, a Japanese boy and his mother with a pathogenic mutation (c.2452G>A) in ATP1A3, who were diagnosed with CAPOS syndrome. 30904181

2019
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation BEFREE The genetic testing revealed a de novo heterozygous mutation of c.2452G > A (p.Glu818Lys) in the ATP1A3 gene, which was compatible with the clinical phenotype of CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss)/CAOS syndrome. 29625811

2018
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation BEFREE Interestingly, two patients (mother and son) showed a variant c.2266C>T (p.R756C), while the third carried the c.2452G>A (p.E818K) variant, commonly described in association with CAPOS syndrome. 29397530

2018
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation BEFREE Through whole exome sequencing and subsequent bioinformatics analysis, two out of the three were found to share a de novo variant, p.E818K of ATP1A3, which had been reported to cause exclusively CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome. 29184165

2017
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation BEFREE The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene. 27091223

2016
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation BEFREE This study confirms that the specific c.2452G>A mutation in the ATP1A3 gene is associated with the CAPOS syndrome in pedigrees of different ethnic backgrounds. 26453127

2015
dbSNP: rs587777771
rs587777771
ATP1A3
0.870 GeneticVariation UNIPROT A novel recurrent mutation in ATP1A3 causes CAPOS syndrome. 24468074

2014
dbSNP: rs587777771
rs587777771
ATP1A3
T 0.870 CausalMutation CLINVAR