Gene: CDKL5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. 17987333

2008
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. 17304551

2007
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. 15932525

2005
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Novel phenotypic and genotypic findings in X-linked retinoschisis. 17296904

2007
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene. 17615541

2007
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Novel clinical manifestation of congenital X-linked retinoschisis. 22332228

2012
dbSNP: rs61752068
rs61752068
RS1 ; CDKL5
T 0.800 CausalMutation CLINVAR Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 10533068

1999
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose. 18690710

2008
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy. 17525175

2007
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 19093009

2008
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin. 18834580

2009
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Clinical phenotype associated with the arg141 his mutation in the X-linked retinoschisis gene. 10636429

2000
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium. 9618178

1998
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis. 20061330

2010
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. 16361673

2006
dbSNP: rs61752159
rs61752159
RS1 ; CDKL5
T 0.800 GeneticVariation CLINVAR Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation. 17631851

2007
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change. 10533068

1999
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. 15937075

2005
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide. 23514609

2014
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease. 20809529

2010
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. 19093009

2008
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR A phenotype-genotype correlation study of X-linked retinoschisis. 23453514

2013
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Positional cloning of the gene associated with X-linked juvenile retinoschisis. 9326935

1997
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. 10947001

1999
dbSNP: rs61753174
rs61753174
RS1 ; CDKL5
A 0.800 GeneticVariation CLINVAR X-linked retinoschisis with point mutations in the XLRS1 gene. 10636421

2000