KCNV2 gene related symptoms and diseases
All the information presented here about the KCNV2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KCNV2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nystagmus | Very Common - Between 80% and 100% cases |
| Horizontal nystagmus | Very Common - Between 80% and 100% cases |
| Foveal atrophy | Very Common - Between 80% and 100% cases |
| Bull's eye maculopathy | Very Common - Between 80% and 100% cases |
| Central scotoma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KCNV2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Macular atrophy
- Scotoma
- Abnormality of color vision
- Cone/cone-rod dystrophy
- High myopia
- Strabismus
- Astigmatism
- Nyctalopia
And 7 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KCNV2 gene
Here you will find a list of rare diseases related to the KCNV2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE
Alternate names
CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE Is also known as cone dystrophy with supernormal rod erg, cdsrr, cone dystrophy with night blindness and supernormal rod responses, kcnv2-related, cone dystrophy with supernormal scotopic electroretinogram, cone dystrophy with supernormal rod responses, cone dystrophy with sup
Description
Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
Most common symptoms of CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE
- Nystagmus
- Strabismus
- Myopia
- Blindness
- Visual loss
More info about CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSE
Search interest in KCNV2
Potential gene panels for KCNV2 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.
Cone-Rod Dystrophy Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Cone-Rod Dystrophy Panel that also includes the following genes: RPGR CNNM4 SEMA4A TULP1 CFAP410 BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1
More info about this panel United States.
KCNV2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KCNV2 gene.
More info about this panel Germany.
KCNV2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KCNV2 gene.
More info about this panel Germany.
Retinal cone dystrophy type 3B (sequence analysis of KCNV2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the KCNV2 gene.
More info about this panel Portugal.
Cone-rod dystrophy (NGS panel of 36 genes) Panel
Portugal.
By CGC Genetics Cone-rod dystrophy (NGS panel of 36 genes) that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Portugal.
Cone-Rod Dystrophy via KCNV2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the KCNV2 gene.
More info about this panel United States.
Cone-Rod Dystrophy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cone-Rod Dystrophy Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1
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.
Retinal cone dystrophy type 3B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the KCNV2 gene.
More info about this panel Germany.
Cone Rod Dystrophies Panel Panel
Germany.
By CeGaT GmbH Cone Rod Dystrophies Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Germany.
Single gene testing KCNV2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the KCNV2 gene.
More info about this panel Germany.
Cone-Rod Dystrophy Panel
Estonia.
By Asper Biogene Asper Biogene LLC Cone-Rod Dystrophy that also includes the following genes: RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1 RAX2
More info about this panel Estonia.
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.
Cone Rod Dystrophy panel Panel
United States.
By Molecular Vision Laboratory Cone Rod Dystrophy panel that also includes the following genes: RPGR CNNM4 SEMA4A CFAP410 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2
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.
KCNV2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the KCNV2 gene.
More info about this panel Austria.
Cone rod dystrophy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Cone rod dystrophy that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Spain.
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel United States.
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.
Retina/Photoreceptor Dystrophy: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
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.
Eye Disorders NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel United States.
Cone-Rod Dystrophy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Cone-Rod Dystrophy NGS Panel that also includes the following genes: CNNM4 SEMA4A BEST1 RPGRIP1 CACNA1F CDHR1 RIMS1 RAX2 KCNV2 CACNA2D4
More info about this panel United States.
Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panel United States.
KCNV2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KCNV2 gene.
More info about this panel United States.
Comprehensive Epilepsy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
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.
Cone Rod Dystrophy Panel Panel
Finland.
By Blueprint Genetics Cone Rod Dystrophy Panel that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A CFAP410 BEST1 RPGRIP1 CABP4 CACNA1F CDHR1
More info about this panel Finland.
CONE-ROD DYSTROPHY Panel
Spain.
By Laboratorio de Genetica Clinica SL CONE-ROD DYSTROPHY that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Spain.
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes Panel
Spain.
By Reference Laboratory Genetics Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes that also includes the following genes: RGS9 RPGR CNNM4 SEMA4A BEST1 RPGRIP1 CABP4 CACNA1F CDHR1 RIMS1
More info about this panel Spain.
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