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.

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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

SOURCES: ORPHANET MESH OMIM


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

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

KCNV2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KCNV2 gene.

More info about this panel

KCNV2 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KCNV2 gene.

More info about this panel

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

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

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

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

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

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

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

Single gene testing KCNV2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the KCNV2 gene.

More info about this panel

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

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

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

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

KCNV2 Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the KCNV2 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

KCNV2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KCNV2 gene.

More info about this panel

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

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

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

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

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


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