RS1 gene related symptoms and diseases
All the information presented here about the RS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RS1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nystagmus | Very Common - Between 80% and 100% cases |
| Abnormality of vision | Very Common - Between 80% and 100% cases |
| Macular schisis | Very Common - Between 80% and 100% cases |
| Mizuo phenomenon | Very Common - Between 80% and 100% cases |
| Electronegative electroretinogram | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with RS1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Moderate vision loss
- Leakage of dye on fundus fluorescein angiography
- Foveal atrophy
- Retinoschisis
- Leukocoria
- Vitreous hemorrhage
- Retinal pigment epithelial atrophy
- Retinal atrophy
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RS1 gene
Here you will find a list of rare diseases related to the RS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED RETINOSCHISIS
Alternate names
X-LINKED RETINOSCHISIS Is also known as rs, x-linked juvenile retinoschisis, xlrs, xlrs1
Description
X-linked retinoschisis (XLRS) is a genetic ocular disease that is characterized by reduced visual acuity in males due to juvenile macular degeneration.
Most common symptoms of X-LINKED RETINOSCHISIS
- Nystagmus
- Strabismus
- Cataract
- Visual impairment
- Blindness
More info about X-LINKED RETINOSCHISIS
Search interest in RS1
Potential gene panels for RS1 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
XLRS1 (RS1) Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the RS1 gene.
More info about this panel United States.
Juvenile retinoschisis, X-linked Panel
Czech Republic.
By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague
This panel specifically test the RS1 gene.
More info about this panel Czech Republic.
RS1 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the RS1 gene.
More info about this panel Netherlands.
RS1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RS1 gene.
More info about this panel Spain.
Retinoschisis (sequence analysis of RS1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RS1 gene.
More info about this panel Portugal.
X-Linked Juvenile Retinoschisis Panel
Poland.
By Laboratory of Genetics BioTe21 Adam Master
This panel specifically test the RS1 gene.
More info about this panel Poland.
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3
More info about this panel United States.
Flecked Retina Disorder Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Flecked Retina Disorder Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B EFEMP1 ABCA4 LRAT PLA2G5
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
X-linked Juvenile Retinoschisis via RS1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RS1 gene.
More info about this panel United States.
Vitreoretinopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy Comprehensive panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Vitreoretinopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy Deletion / Duplication panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Vitreoretinopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Vitreoretinopathy NGS panel that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel United States.
Retinoschisis Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RS1 gene.
More info about this panel Germany.
Flecked Retina Disorders Panel Panel
Germany.
By CeGaT GmbH Flecked Retina Disorders Panel that also includes the following genes: RLBP1 RS1 CHM VPS13B EFEMP1 PLA2G5 RDH5
More info about this panel Germany.
Single gene testing RS1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the RS1 gene.
More info about this panel Germany.
X-Linked Retinoschisis Panel
Estonia.
By Asper Biogene Asper Biogene LLC
This panel specifically test the RS1 gene.
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Vitreoretinopathy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Vitreoretinopathy that also includes the following genes: RS1 BEST1 CAPN5 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1 COL9A1 COL9A2
More info about this panel Estonia.
Retinoschisis, RS1 sequencing Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center
This panel specifically test the RS1 gene.
More info about this panel United States.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
X-Linked RP Panel Panel
United States.
By Molecular Vision Laboratory X-Linked RP Panel that also includes the following genes: RP2 RPGR RS1 CHM OFD1
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Retinoschisis1, X-linked, juvenile Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the RS1 gene.
More info about this panel Austria.
RS1 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the RS1 gene.
More info about this panel Austria.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Retinoschisis1, X-linked, juvenile Panel
Slovakia.
By MedGene
This panel specifically test the RS1 gene.
More info about this panel Slovakia.
Retinoschisis, Juvenil X-linked: RS1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RS1 gene.
More info about this panel Spain.
Retinoschisis, Juvenil X-linked: RS1 gene mutation analysis (E72K, G74V, G109R) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RS1 gene.
More info about this panel Spain.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
RS1 gene test Panel
United States.
By NEI Ophthalmic Genomics Laboratory National Institutes of Health
This panel specifically test the RS1 gene.
More info about this panel United States.
RS1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RS1 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Flecked Retina Disorders Panel Panel
Finland.
By Blueprint Genetics Flecked Retina Disorders Panel that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B CYP4V2 ABCA4 PLA2G5 PROM1
More info about this panel Finland.
Macular Dystrophy Panel Panel
Finland.
By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3
More info about this panel Finland.
Retinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel Finland.
Vitreoretinopathy Panel Panel
Finland.
By Blueprint Genetics Vitreoretinopathy Panel that also includes the following genes: RS1 BEST1 ATOH7 CAPN5 P3H2 ZNF408 TSPAN12 COL11A1 COL11A2 COL18A1
More info about this panel Finland.
X-linked juvenile retinoschisis Panel
Spain.
By Bioarray
This panel specifically test the RS1 gene.
More info about this panel Spain.
RETINOSCHISIS, X-LINKED Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the RS1 gene.
More info about this panel Spain.
X-Linked Juvenile Retinoschisis, Sequencing RS1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RS1 gene.
More info about this panel Spain.
X-Linked Juvenile Retinoschisis, Mutations (E72K, G74V, G109R) RS1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RS1 gene.
More info about this panel Spain.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
Juvenile Retinoschisis: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the RS1 gene.
More info about this panel Canada.
Juvenile Retinoschisis: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the RS1 gene.
More info about this panel Canada.
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