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.
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
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
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
Search interest in CNGB3
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 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.
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 United States.
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 United States.
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 United States.
CNGB3 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the CNGB3 gene.
More info about this panel Germany.
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 Netherlands.
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 Spain.
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 Spain.
Achromatopsia 3 (sequence analysis of CNGB3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CNGB3 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.
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 Portugal.
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 United States.
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 United States.
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.
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.
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 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.
Achromatopsia type 3 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CNGB3 gene.
More info about this panel Germany.
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 Germany.
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 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.
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 Germany.
Single gene testing CNGB3 Panel
Germany.
By CeGaT GmbH
This panel specifically test the CNGB3 gene.
More info about this panel Germany.
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 Estonia.
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 Estonia.
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.
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 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.
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 Germany.
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.
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 United States.
CNGB3 single gene sequencing Panel
United States.
By Molecular Vision Laboratory
This panel specifically test the CNGB3 gene.
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.
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.
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.
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 Spain.
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 Spain.
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.
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 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.
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.
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 United States.
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 United States.
CNGB3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CNGB3 gene.
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.
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 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.
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.
Achromatopsia type 3 Panel
Spain.
By Bioarray
This panel specifically test the CNGB3 gene.
More info about this panel Spain.
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 Spain.
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 Spain.
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 Spain.
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.
Autosomal Recessive Achromatopsia , Sequencing CNGB3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CNGB3 gene.
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.
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 Spain.
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 Spain.
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 Spain.
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 Canada.
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