×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
RP25 , a locus for autosomal recessive retinitis pigmentosa (arRP), the most frequently inherited form of RP , was mapped to chromosome 6q between D6S257 and D6S1644 microsatellite markers.
16273301
2005
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
Biomarker
disease
CTD_human
EYS , encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa .
18836446
2008
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
Therefore, we chose to perform molecular evaluation of this gene as a good candidate in arRP families linked to the RP25 interval.
17803723
2008
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
CLINVAR
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
18976725
2008
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
To date, a total of 26 loci have been reported for arRP, each having a prevalence of 1-5%, except for the RP25 locus which was identified as the genetic cause of 14% of arRP cases in Spain.
18510647
2008
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
LHGDN
EYS , encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa .
18836446
2008
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
LHGDN
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
18976725
2008
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
Biomarker
disease
BEFREE
The EYS gene is a recently identified disease-causing gene for retinitis pigmentosa , and encodes the orthologue of Drosophila spacemaker.
20696082
2010
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
CausalMutation
disease
CLINVAR
Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
20537394
2010
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
CLINVAR
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.
21069908
2010
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
CausalMutation
disease
CLINVAR
Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.
22164218
2011
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
Results suggest that midsized genomic rearrangements in EYS gene would be a common event in the appearance of RP phenotype.
21519034
2011
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
CausalMutation
disease
CLINVAR
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
22581970
2012
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
To screen for disease-causing mutations in the Eyes shut homolog (EYS ) gene in Japanese patients with retinitis pigmentosa (RP ).Methods.
22302105
2012
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
Recently, arRP has been associated with mutations in EYS (Eyes shut homolog), which is a major causative gene for this disease.
22363543
2012
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
CLINVAR
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
24265693
2013
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
CLINVAR
Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
25268133
2014
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
To characterize the clinical phenotypes associated with previously-reported mutations of the eyes shut homolog (EYS ) gene, including a truncating mutation, c.4957_4958insA , which is a major causative mutation for retinitis pigmentosa (RP ) in Japan.
23421333
2014
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
In particular, mutations in EYS accounted for 15.0% of the autosomal recessive/simplex RP patients or 10.7% of the entire RP cohort.
25324289
2014
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
In addition, this is the first report of data regarding the association between EYS mutations and non-syndromic RP forms in the Italian population.
25366773
2014
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
CLINVAR
NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
26667666
2015
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
CausalMutation
disease
CLINVAR
Histopathological comparison of eyes from patients with autosomal recessive retinitis pigmentosa caused by novel EYS mutations.
25491159
2015
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
Biomarker
disease
BEFREE
In conclusion, our findings expand the spectrum of EYS mutations in RP in the Indian population and provide further support for the role of EYS in the pathogenesis and clinical diagnosis of RP .
26787102
2016
×
Entrez Id:
346007
Gene Symbol:
EYS
EYS
0.700
GeneticVariation
disease
BEFREE
Inner segment ellipsoid band length is a prognostic factor in retinitis pigmentosa associated with EYS mutations: 5-year observation of retinal structure.
27564720
2016