CNGB3 gene related symptoms and diseases

All the information presented here about the CNGB3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CNGB3 gene

Symptoms // Phenotype % Cases
Photophobia Common - Between 50% and 80% cases
Blindness Common - Between 50% and 80% cases
Reduced visual acuity Common - Between 50% and 80% cases
Retinal pigment epithelial atrophy Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CNGB3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pendular nystagmus
  • Bull's eye maculopathy
  • Progressive visual loss
  • Retinal degeneration
  • Abnormality of color vision
  • Visual impairment
  • Nyctalopia
  • Monochromacy

And 49 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CNGB3 gene

Here you will find a list of rare diseases related to the CNGB3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACHROMATOPSIA


Alternate names

ACHROMATOPSIA Is also known as total color blindness, rod monochromatism, rod monochromacy 2, rmch2, colorblindness, total, rod monochromacy, achm, complete or incomplete color blindness, pingelapese blindness, rod monochromatism 2

Description

Achromatopsia (ACHM) is a rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.

Most common symptoms of ACHROMATOPSIA

  • Nystagmus
  • Visual impairment
  • Myopia
  • Blindness
  • Reduced visual acuity


More info about ACHROMATOPSIA

SOURCES: ORPHANET OMIM

ACHROMATOPSIA 3; ACHM3


Alternate names

ACHROMATOPSIA 3; ACHM3 Is also known as total colorblindness with myopia, rod monochromatism 1, formerly, achm1, formerly, rod monochromacy 1, formerly, rmch1, formerly, pingelapese blindness, achromatopsia with myopia

Most common symptoms of ACHROMATOPSIA 3; ACHM3

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Cataract
  • Myopia


More info about ACHROMATOPSIA 3; ACHM3

SOURCES: OMIM

STARGARDT DISEASE


Alternate names

STARGARDT DISEASE Is also known as fundus flavimaculatus, stargardt 1

Description

Stargardt disease, also known as Stargardt 1 (STGD1), is an autosomal recessive form of retinal dystrophy that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion.

Most common symptoms of STARGARDT DISEASE

  • Reduced visual acuity
  • Nyctalopia
  • Macular degeneration
  • Abnormality of color vision
  • Central scotoma


More info about STARGARDT DISEASE

SOURCES: ORPHANET

SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY


Alternate names

SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY Is also known as secord, macular degeneration, juvenile, macular dystrophy with flecks, type 1, eosrd, stgd, early-onset severe retinal dystrophy

Description

Severe early childhood onset retinal dystrophy (SECORD) is an inherited retinal dystrophy characterized by a severe congenital night blindness, progressive retinal dystrophy and nystagmus. Best corrected visual acuity can reach 0.3 in the first decade of life and can pertain well into the second decade of life. Blindness is often complete by the age of 30 years.

Most common symptoms of SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY

  • Blindness
  • Visual loss
  • Reduced visual acuity
  • Photophobia
  • Nyctalopia


More info about SEVERE EARLY-CHILDHOOD-ONSET RETINAL DYSTROPHY

SOURCES: ORPHANET OMIM

PROGRESSIVE CONE DYSTROPHY


Alternate names

PROGRESSIVE CONE DYSTROPHY Is also known as cone dystrophy, autosomal dominant, cone dystrophy, retinal cone degeneration

Most common symptoms of PROGRESSIVE CONE DYSTROPHY

  • Visual impairment
  • Photophobia
  • Retinal degeneration
  • Progressive visual loss
  • Abnormality of retinal pigmentation


More info about PROGRESSIVE CONE DYSTROPHY

SOURCES: MESH ORPHANET OMIM


Potential gene panels for CNGB3 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

Macular Degeneration Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1

More info about this panel

Achromatopsia Type - CNGB3 Sequencing Panel

United States.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado

This panel specifically test the CNGB3 gene.

More info about this panel

Acromatopsia, CNGA3/CNGB3, Sequencing Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Acromatopsia, CNGA3/CNGB3, Sequencing that also includes the following genes: CNGA3 CNGB3

More info about this panel

CNGB3 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the CNGB3 gene.

More info about this panel

CNGB3 mutation analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam

This panel specifically test the CNGB3 gene.

More info about this panel

CNGB3. Detection of the mutation c.1148delC by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CNGB3 gene.

More info about this panel

CNGB3. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the CNGB3 gene.

More info about this panel

Achromatopsia 3 (sequence analysis of CNGB3 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CNGB3 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

Stargardt disease and macular distrophy (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Achromatopsia via CNGB3 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CNGB3 gene.

More info about this panel

Leber Congenital Amaurosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Leber Congenital Amaurosis Sequencing Panel with CNV Detection that also includes the following genes: RPE65 TULP1 RPGRIP1 CABP4 NMNAT1 RD3 RDH12 SPATA7 INPP5E CNGA3

More info about this panel

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

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

Achromatopsia (ACHM) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Achromatopsia (ACHM) Sequencing Panel with CNV Detection that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H

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

Achromatopsia type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CNGB3 gene.

More info about this panel

Stargardt Disease type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CNGB3 gene.

More info about this panel

Achromatopsia Panel Panel

Germany.

By CeGaT GmbH Achromatopsia Panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H

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

Stargardt Disease and Macular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 RDH12

More info about this panel

Single gene testing CNGB3 Panel

Germany.

By CeGaT GmbH

This panel specifically test the CNGB3 gene.

More info about this panel

Stargardt Disease, Cone-Rod Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Stargardt Disease, Cone-Rod Dystrophy that also includes the following genes: ELOVL4 CNGB3 ABCA4 PROM1

More info about this panel

Autosomal Recessive Retinitis Pigmentosa Panel

Estonia.

By Asper Biogene Asper Biogene LLC Autosomal Recessive Retinitis Pigmentosa that also includes the following genes: RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG

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

Achromatopsia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Achromatopsia that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H

More info about this panel

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

CNGB3-Related Stargardt Disease 1 Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the CNGB3 gene.

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

Achromatopsia panel Panel

United States.

By Molecular Vision Laboratory Achromatopsia panel that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H

More info about this panel

CNGB3 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the CNGB3 gene.

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

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

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

STARGARDT SYNDROME Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases STARGARDT SYNDROME that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Achromatopsia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Achromatopsia that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C PDE6H

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

Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPGR TIMP3 BEST1 RPGRIP1 ELOVL4 CDH3 RDH12 CNGB3 EFEMP1 ABCA4

More info about this panel

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

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

Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

More info about this panel

Achromatopsia NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Achromatopsia NGS Panel that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C

More info about this panel

CNGB3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CNGB3 gene.

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

Achromatopsia Panel Panel

Finland.

By Blueprint Genetics Achromatopsia Panel that also includes the following genes: RGS9 CNGA3 CNGB3 RGS9BP GNAT2 ATF6 PDE6C PDE6H

More info about this panel

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

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

Achromatopsia type 3 Panel

Spain.

By Bioarray

This panel specifically test the CNGB3 gene.

More info about this panel

ACHROMATOPSIA Panel

Spain.

By Laboratorio de Genetica Clinica SL ACHROMATOPSIA that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H

More info about this panel

STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS) Panel

Spain.

By Laboratorio de Genetica Clinica SL STARGARDT DISEASE TYPE 1 (FUNDUS FLAVIMACULATUS) that also includes the following genes: CNGB3 ABCA4

More info about this panel

ACHROMATOPSIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ACHROMATOPSIA NGS PANEL that also includes the following genes: CNGA3 CNGB3 GNAT2 ATF6 PDE6C PDE6H

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

Autosomal Recessive Achromatopsia , Sequencing CNGB3 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CNGB3 gene.

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

Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: ELOVL4 CNGB3 ABCA4 PROM1 PRPH2

More info about this panel

Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Stargardt Disease , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4 FSCN2

More info about this panel

Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Achromatopsia , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CNGA3 CNGB3 GNAT2 PDE6C PDE6H

More info about this panel

Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5

More info about this panel


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